Dr.KAMEL HASSAN PEDIATRIC QUESTIONS AND ANSWERS

Dr.Kamel Hassan Pediatric Questions&Answers Group2

2008-10-25T11:42:00.005-07:00

Question 1
In a patient with a small VSD
A- symptoms are usually present at birth
B- The risk of endocarditis is an indication for closure of the defect.
C- The ECG is usually normal
D- If the systolic murmur is loud the prognosis is worse
E- 10% will close spontaneously in the first few years of life.
Answer Question 1
A- False B- False C- True D- False E- False
A small VSD is often asymptomatic and most will close spontaneously during the first few years of life. The risk of endocarditis is not an indication for closure, though, prophylaxis will be needed for certain procedures. The small VSDs have shorter louder systolic murmurs. A mid-diastolic apical murmur is heard with large defects. The ECG is normal and may show LVH if the murmur is large. If pulmonary hypertension develops, then RVH is seen on the ECG.
Surgical repair is indicated if there are severe symptoms with failure to thrive, if pulmonary hypertension develops, if aortic regurgitation develops, or if there is persistent significant shunting over 10 years of age.

Question 2
The following are features of a Supraventricular tachycardia.
A- The tachycardia responds to adenosine.
B- Fusion beats are present.
C- There is AV dissociation.
D- The heart rate is always regular.
E- Capture beats are present.
Answer Question 2
A- True B- False C- False D- False E- False
A supraventricular tachycardia (SVT) can be hard to distinguish from a ventricular tachycardia (VT).
Fusion and capture beats are seen in ventricular tachycardia.
AV association is present in SVT (Dissociation in VT).
The heart rate may not be regular in SVT.SVT responds to adenosine.
If there is uncertainty about the nature of the arrhythmia (SVT or VT) then it should be treated as VT..

Question 3
Peripheral pulmonary stenosis is seen in
A- Alagille syndrome
B- Marfan’s syndrome
C- Klinefelter’s syndrome
D- Congenital rubella syndrome
E- William’s syndrome
Answer Question 3
A- True B- False C- False D- True E- True
Peripheral pulmonary stenosis is seen in William’s syndrome, Congenital rubella syndrome, and Alagille syndrome.

Question 4
A right sided aortic arch is seen with
A-Ebestein’s anomaly
B-Tetralogy of Fallot
C-Congenital vascular ring
D-Pulmonary atresia
E-Truncus arteriosus
Answer Question 4
A- False B- True C- True D- True E- True
A right sided aortic arch is seen in Fallot’s tetralogy, truncus arteriosus, pulmonary atresia and commonly with a congenital vascular ring. It may also be present with no cardiac abnormality.

Question 5
In Pneumocystis carinii pneumonia
A- Presentation in infants is usually with acute onset of dyspnea
B- Investigation may require bronchoalveolar lavage
C- Septrin may cause a neutropaenia
D- The chest x-ray is normal on presentation in around a quarter of cases
E- Post-infection prophylaxis with Septrin is sometimes necessary in the immunompromised.
Answer Question 5
A- False B- False C- False D- True E- False
Pneumocytis carinii pneumonia in infants usually presents with an insidious onset of dyspnea, tachypnea, cough and fever at around 3 months in the immunocompromised infant. Septrin therapy can cause a neutropaenia, and also a rash. Bronchoalveolar lavage is necessary for diagnosis if sputum can not be obtained otherwise, hypoxia is a cardinal feature, and is often severe despite normal chest auscultation. The chest x-ray is normal in about 25% at presentation. Otherwise it shows perihilar shadowing “ butterfly rash ” or a ground glass appearance with air bronchograms.
Post-infection prophylaxis with Septrin or pentamidine is recommended in the immunocompromised.

Question 6
Cystic Adenomatoid malformation (CAM) of the lung
A- Is the most common congenital malformation of the lung
B- Rarely results in midline shift with compression of the opposite lung
C- May present with recurrent chest infection
D- Is associated with Turner’s syndrome
E- Is managed with surgical resection.
Answer Question 6
A- False B- False C- True D- False E- True
Cystic Adenomatoid malformation (CAM) of the lung is the second most common congenital lung malformation(congenital lobar emphysema being the most common). It usually causes a midline shift and compression of the opposite lung. It presents most commonly with neonatal respiratory distress, though may present with recurrent chest infections. Management is surgical with resection. There is no known association with Turner’s syndrome.

Question 7
Regarding cystic fibrosis
A- Nasal polyps in childhood and adolescence are virtually pathognomonic of cystic fibrosis.
B- It may present in infancy with sever gastro-oesophageal reflux.
C- The commonest cause of a respiratory exacerbation during infancy is Haemophilus influenza.
D- Flucloxacillin does not interfere with the sweat test.
E- Treatment of allergic bronchopulmonary aspergillosis is with intraconazole as first line therapy.
Answer Question 7
A- True B- True C- False D- True E- False
Nasal polyps in adults are more likely to signify aspirin sensitive asthma.
Staphylococcus aureus is the most common pathogen in infancy .
After the age of 2 years the incidence of pseudomonas slowly rises.
Allergic bronchopulmonary aspergillosis is an allergic response to aspergillus, and therefore the treatment is steroids. The diagnosis is made by a combination of cough and wheeze, patch shadowing on chest x-ray and a high specific IgE to Aspergillus.

Question 8
In a child who appears to have malabsorption
A- Anti-endomysial antibody is 90.5% sensitive for Coeliac disease.
B- Faecal elastase is the most practically useful test for pancreatic insufficiency.
C- Giardiasis may be diagnosed by faecal examination in 70% of cases.
D- A small bowel biopsy is necessary for the diagnosis of a beta-lipoproteinaemia.
E- Primary lactose deficiency is a common cause.
Answer Question 8
A- False B- True C- False D- True E- False
Anti-endomysial antibody is an IgA and as 1-4% of the general population have low IgA there may be a FALSE negative result in these individuals. A maximum pick up rate of Giardia in the stool of 20% can be expected, and hence a trial of metronidazole for 5-7 days may be a better diagnostic tool. Primary lactase deficiency is rare, whereas post-gastroenteritis secondary lactase deficiency is not uncommon. Late onset congenital lactase deficiency occurs around the age of 10-14 especially in those of Mediterranean origin.

Question 9
Features of a non-organic origin for recurrent abdominal pain in children and adolescents are:
A- Early morning wakening with pain
B- Absence of dysuria.
C- Predominance in girls.
D- A family history of atypical migraine.
E- Negative correlation with Helicobacter pylori serological positivity.
Answer Question 9
A- False B- False C- True D- False E- False
Any nocturnal wakening with pain must be investigated for an organic cause. UTIs can occur without symptoms and an MSU is necessary in the majority of children with abdominal pain even if a psychogenic origin is suspected. Abdominal migraine occurs and usually has a preceding family history of classical migraine. There is no correlation, positive or negative between H. pylori serology and RAP of non-organic origin

Question 10
Recognised pathology and complications of Crohn’s include:
A- Toxic megacolon
B- Increased presence of megakaryocytes.
C- Calcium oxalate renal calculi.
D- Caseating granulomas.
E- Eventual diminished adult height if testicular volume is 5-10ml at 17 years of age.
Answer Question 10
A- False B- True C- True D- False E- False
Toxic megacolon is a feature of ulcerative colitis. Terminal ileal involvement may cause a low vitamine B12. Non-caseating granulomas occur. Until testicular volume is 20 ml there is still potential for increase in height. The warning area where urgent attention is necessary to treat the affected bowel to allow the pubertal growth spurt to occur is reached when testicular volume reaches 10 ml.

Question 11
Regarding micronutrient and vitamin deficiencies:
A- Dermatitis, dementia, and diarrhea occurs with a deficiency of niacin (nicotinamide).
B- Symmetrical polyneuropathy occurs with thiamine deficiency.
C- Raised S-T segments on ECG can occur with vitamine A deficiency.
D- Selenium deficiency occurs within 6 weeks of commencement of total parenteral nutrition.
E- Vitamine A is found mainly in fish when a child is on a dairy-free diet.
Answer Question 11
A- True B- True C- False D- False E- False
Selenium stores are sufficient to account for requirements for 6 months when on a selenium-free diet (modern TPN will have selenium added to it), and deficiency can cause cardiomyopathy not pericarditis. Eggs, Liver, and green vegetables are good sources of vitamine A.

Question 12
Atrial naturetic peptide:
A- Increases glomerular filtration rate.
B- Decreases blood pressure.
C- Decreases renin-angiotensin-aldosterone system action.
D- Is secreted from the cardiac atria in response to increased stretch, increased pressure and increased osmolarity.
E- Causes peripheral vasoconstriction.
Answer Question 12
A- True B- True C- True D- True E- False
Atrial naturetic peptide also increases sodium and water excretion. It has no effect on vasoconstriction.

Question 13
Low complement levels are a finding in
A- Recurrent severe pyelonephritis.
B- Mesangiocapillary glomerulonephritis.
C- Post-streptococcal glomerulonephritis.
D- Congenital Nephrotic syndrome.
E- Focal segmental glomerulonephritis.
Answer Question 13
A- False B- True C- True D- False E- False
In type I mesangiocapillary GN a low C3 and normal C4 are classically observed with subendothelial immune complex deposition and splitting of the basement membrane.
Type II results in mesengial cell proliferation and intramembranous immune complex deposition. Post-streptococcal GN (e.g.diffuse GN) may have low C3 and normal C4, focal segmental, and rapidly progressive GN do not classically have complement decrease. Similarly membranous and minimal change do not have a low complement as a common feature.

Question 14
Proximal renal tubular acidosis is associated with.
A- Proximal tubular bicarbonate secretion
B- Rickets.
C- Aminoaciduria.
D- Hypochloraemia.
E- Interstitial nephritis
Answer Question 14
A- False B- True C- True D- False E- False
Proximal RTA is due to proximal tubule bicarbonate reabsorption, whereas distal RTA is due to distal tubule failure to excrete hydrogen ions. Rickets and aminoaciduria occur when associated with Fanconi’s syndrome (Type II proximal RTA). Hyperchloraemia, Hypokalaemia, low serum bicarbonate, and a metabolic acidosis with urine which can be acidified below pH 5.5, un like distal RTA where the urine can not be acidified below pH 5.8. secondary causes of distal RTA include interstitial nephritis, obstructive nephropathy, and pyelonephritis.

Question 15
Renal malformations occur in the following
A- Crohn’s disease.
B- Ulcerative colitis with positive pANCA.
C- Tuberous sclerosis.
D- Hemihypertrophy.
E- DiGeorge syndrome.
Answer Question 15
A- False B- True C- True D- True E- False
In some cases of UC, pANCA positivity may point towards multiple organ vasculitis and angiogram will reveal microaneurysms in the distribution of inferior mesenteric artery, renal bed, other visceral arterial supplies and even coronary arteries. Hamartomas or polycystic kidneys are associated with tuberous sclerosis. Hemihypertrophy ma be associated with renal hyperplasia or wilm’s tumours.

Question 16
Biliary atresia is characterised by
A- An absence of a gallbladder on fasting ultrasound.
B- Biliary duct proliferation on liver biopsy.
C- Poor uptake of radioisotope in to the liver after pre-administration of phenobarbitone for 5 days.
D- Facial dysmorphism with Hypertelorism, deep-set eyes and a small mandible.
E- Conjugated hyperbilirubinaemia in the first 24 hours of life.
Answer Question 16
A- True B- True C- False D- False E- False
Liver biopsy usually distinguishes between neonatal hepatitis and biliary atresia but the two can still present withsimilar histological hepatic features-biliary duct hyperplasia is usually seen in biliary atresia and giant cells are typical of neonatal hepatitis. Phenobarbitone pre-administration prior to a liver isotope scan increases the likelihood of hepatobiliary excretion in neonatal hepatitis but not biliary atresia-it has no effect on uptake in either condition. If facial dysmorphism is seen with so-called “pinched facies” of Hypertelorism, deep-set eyes, small mandible and a long nose then arteriohepatic dysplasia, or Alagille’s syndrome, should be suspected in the presence of jaundice, biliary atresia is not characterised by jaundice in the first day of life as this is much more likely to be due to a haemolytic cause.

Question 17
The following are true of hepatitis B
A- Interferon alpha may seroconvert approximately 40% of infected children.
B- HBsAB indicates a carrier state.
C- 5-10% of infected children will develop fulminate hepatic failure.
D- Hepatitis D virus can only occur in the presence of hepatitis B virus.
E- HBeAB indicates high infectivity.
Answer Question 17
A- True B- False C- False D- True E- False
After a 6 months course of 3-5 MIU/kg 3 times a week up to 40% of children will seroconvert to HBsAb and , where needed, HbsAg indicates carrier state, HBeAg indicates high infectivity, and HBsAb/HBeAb indicate seroconversion. In most studies no more than 1% of children go on to develop Fulminant liver failure, the vast majority recovering without sequelae. 10% develop a chronic carrier state, of whom 10-30% remain asymptomatic and 70-90% develop cirrhosis – both situation can lead to hepatocellular carcinoma. HDV or delta virus exists sloly in the HbsAg and is an incomplete RNA particle.

Question 18
In children with primary hepatic tumours
A- Hepatocellular carcinoma is commoner under the age of 4 than Hepatoblastoma.
B- Abdominal pain will be the presenting feature in 90%.
C- Jaundice occurs in less than 10%.
D- Plain abdominal x-ray will demonstrate calcification in 40-50% of hepatocellular carcinomas.
E- Hepatoblastoma has a well-established link with Beckwith-Weidemann syndrome and hemihypertrophy.
Answer Question 18
A- False B- False C- True D- False E- True
Most hepatoblastomas occur under 18 months of age and HCC is commoner in older childhood. Short arm of chromosome 11 is implicated in the genetic etiology of Hepatoblastoma, and is associated with other embryonal tumours such as Wilm’s. conversely, HCC seems to be associated with environmental factors. An abdominal mass will be present in 50-60% of HCCs and 70% of hepatoblastomas, but pain only occurs in 10-20%. Weight loss and anorexia are similarly uncommon 20%, and jaundice only appears in 7-10% of cases. MRI is the investigation of choice with further imaging of the vascularity by hepatic angiography if required. Calcification is not a feature.

Question 19
In paracetamol-induced hepatotoxicity in childhood
A- Hypoglycaemia is the commonest presenting feature.
B- Concomitant ingestion of enzyme-inducers such as anti-convulsant drugs may increase risk of hepatotoxicity.
C- Treatment with N-acetyl cysteine should be delayed until paracetamol levels are known.
D- Subsequent auoimmune hepatitis is commoner than in the general population.
E- A type IV systemic hypersensitivity reaction plays a part in the liver damage.
Answer Question 19
A- False B- True C- False D- False E- False
Although hypoglycaemia may occur in fulminant liver failure, the commonest presentations are with symptoms such as nausea, anorexia and vomiting. Then after 24-48 hours, right upper quadrant pain, followed by signs of overt hepatic injury at day 2-4. normally it is conjugated to sulphate and glucuronide, but if this pathway is overwhelmed then the cytochrome P450 inducible system takes over and rapidly depletes the glutathione responsible for conjugating the toxic metabolites of this pathway from paracetamol. Hence enzyme induction will hasten toxicity. Paracetamol hepatotoxicity is a dose-dependent condition not reliant on hypersensitivity.

Question 20
The following are true regarding sideroblastic anaemia
A- It occurs as an X-linked recessive disease.
B- It is seen in lead poisoning.
C- A dimorphic blood film is often present.
D- Pyridoxine may be used in therapy.
E- Ring sideroblasts are seen in the marrow.
Answer Question 20
A- True B- True C- True D- True E- True
In sideroblastic anaemia, hypochromic cells are seen in the peripheral blood, and ring sideroblasts are seen in the marrow with increased marrow iron (visible on Perl’s reaction).
An inherited disease exists, which is x-linked recessive. Acquired disease may be primary(myelodysplasia FAB type2) or secondary. Secondary disease is seen in malignant disease of the marrow, certain drugs (e.g. isoniazed). lead poisoning (basophilic stippling occurs), and haemolytic anaemia.The blood film shows microcytic, hypochromic cells, and is often dimorphic. The bone marrow shows erythroblasts with a ring of iron granules in them, and increased iron deposition.
Management involves removing any treatable cause. Pyridoxine therapy may help, particularly in inherited disease. Folate therapy is given if deficiency is present. Repeated blood transfusion may be necessary.

Question 21
In Diamond-Blackfan syndrome
A-A neutropaenia may be present.
B-Presentation is usually in late childhood.
C-Erythropoeitin levels are raised in the blood.
D-Triphalangeal thumbs are seen.
E-The blood film shows a microcytic anaemia.
Answer Question 21
A- True B- False C- True D- True E- False
Diamond-Blackfan syndrome is an Autosomal recessive condition. It is a red cell aplasia and present as a sever anaemia by 2-6 months of age. A neutropenia and a thrombocytosis may be present initially. The blood film shows a macrocytic anaemia with a young red cell population and reduced red cells. There are reduced red cell precursors in the bone marrow. Other abnormalities seen include triphalangeal thumbs, and dysmorphic facies.

Question 22
Regarding idiopathic thrombocytopaenic purpura
A- It is associated with Epstein Barr infection.
B- Antiplatelet IgG antibodies are seen.
C- It is usually occurs during a viral infection.
D- Chronic disease occurs in about a third of cases.
E- Transfused platelets are quickly destroyed.
Answer Question 22
A- True B- True C- False D- False E- True
idiopathic thrombocytopaenic purpura (ITP) is common in children. It usually occurs 1-4 weeks after a viral infection such as EBV,VZV and measles.
Clinical features are of bleeding with petechiae, bruises and mucosal bleeding. Intracranial haemorrhage occurs but is rare. Anti-platelet antibodies (both IgG and IgM) are seen. Most cases will resolve spontaneously in children, with only 5-10% becoming chronic.
Platelet transfusion are only given in emergency as they are quickly destroyed.

Question 23
Causes of splenomegaly include.
A- Osteopetrosis.
B- Christmas disease.
C- Diamond-Blackfan syndrome.
D- Brucellosis.
E- Neimann-Pick disease.
Answer Question 23
A- True B- False C- False D- True E- True
Many causes of splenomegaly (useful to remember particularly for the clinical exam) may be classified in to subgroup:
*Infectious causes e.g EBV, subacute bacterial endocarditis, and brucellosis.
*Extramedullary haemopoiesis e.g haemolytic anaemias, haemaglobinopathies, osteopetrosis.
*Congestion e.g.portal hypertension.
*Neoplastic conditions e.g leukaemia.
*Storage diseases e.g Neimann-Pick disease, Gaucher’s disease, LCH, mucopolysaccharidoses .
*Other systemic diseases e.g Amyloidosis, SLE.
*Massive splenomegaly is classically seen in malaria, kala-Azar,CML and myelofibrosis.

Question 24
The following are associated with Wilm’s tumour
A- Mental retardation.
B- Neurofibromatosis.
C- Prader-Willi syndrome.
D- Hemiplegia.
E- Aniridia.
Answer Question 24
A- False B- True C- False D- False E- True
Wilm’s tumour is associated with neurofibromatosis, hemihypertrophy, aniridia, genitourinary anomalies and Beckwith-Weidemann syndrome.

Question 25
The following are associated with a good prognosis in acute lymphoblastic leukaemia (ALL).
A- Male sex.
B- Age below 2 years at presentation.
C- Hyperdiploidy.
D- Translocation 4:11.
E- Initial WCC low.
Answer Question 25
A- False B- False C- True D- False E- True
The factors associated with a good prognosis in ALL are:
*Female sex.
*Low initial WCC.
*Age 2-10 years.
*Less than 4 weeks to initial remission.
*Translocation 12:21.
*c-ALL
The other features in the question are associated with a poor prognosis.

Question 26
Regarding immunoglobulins.
A- IgA is present in adult levels at birth.
B- IgG levels fall in the months after birth.
C- IgG is present in adult levels at birth.
D- IgM reaches adult levels by puberty.
E- Raised IgM levels at birth are seen in intra-uterine infection.
Answer Question 26
A- False B- True C- True D- False E- True
IgG is present at adult levels at birth due to placental transfer of the immunoglobulin. The levels fall off during the first few months and reach lowest levels at 3-6 months before climbing slowly to reach adult levels by 5-6 years. This may result in transient hypogammaglobulinaemia of infancy. IgA is absent at birth and levels slowly rise to reach adult levels by puberty. IgM is also absent at birth with adult levels being reached by about 1 year of age. If there are increased levels of IgM at birth, this indicate intra-uterine infection.

Question 27
Regarding ataxia telangiectasia
A- Cell mediated immunity is impaired.
B- IgA levels are normal.
C- There is a sensitivity to ionising radiation.
D- There are mutations in the ATM gene.
E- Alpha-fetoprotein (AFP) is elevated.
Answer Question 27
A- True B- False C- True D- True E- True
Ataxia telangiectasia involves both impaired cell mediated immunity and impaired antibody production. In particular, IgA is very low. IgE, IgG2 and IgG4 are also low. There is a defect in DNA repair, and an extreme sensitivity to ionising radiation. The genetic defect involves mutations in the ATM gene on chromosome 11. Both serum AFP and CEA are elevated.

Question 28
The following vaccines should be avoided in a child with a history of sever allergy to eggs.
A- Diphtheria.
B- MMR.
C- Tetanus.
D- Yellow fever.
E- Influenza.
Answer Question 28
A- False B- True C- False D- True E- True
Patients with a history of anaphylaxis to eggs should not receive the egg-based vaccines: MMR, influenza and yellow fever.
NB. MMR vaccination should only take place where resuscitation facilities are available (e.g. in a hospital paediatric unit).

Question 29
In measles infection
A- The eruptive stage is infectious.
B- Forchheimer spots are seen.
C- The incubation period is 14-21 days.
D- Koplik spots are pathognomonic.
E- There are EEG abnormalities during infection in up to 5% of cases.
Answer Question 29
A- False B- False C- False D- True E- True
Measles is infectious in the pre-eruptive stage, not the eruptive stage. Forchheimer spots are palatal petechiae which are classically seen in Rubella.
The incubation period is short (7-14 days). Koplik spots are small grey lesions on the gum next to the 2nd molar and they are pathognomonic.
EEG abnormalities are seen in the acute disease in around 50% of cases.

Question 30
Lyme disease
A- Is a Rickettsial infection.
B- Is transmitted by sandflies.
C- May be diagnosed by measuring serum antibodies.
D- Is a cause of erythema marginatum.
E- Causes a chronic recurrent arthritis in most cases if untreated.
Answer Question 30
A- False B- False C- True D- False E- True
Lyme disease is caused by the spirochaete, Borellia burgdorfei, and is transmitted by ixodid ticks on deer and sheep. The diagnosis is by measuring the IgM antibodies. The first feature is Erythema chronicum migrans (a painless red rash, spreading outwards). Most cases will develop a chronic arthritis within months to years without treatment.

Question 31
In Rabies
A- The virus enters at the bite woud and spreads via the lymphatics.
B- There is a vaccine which is live attenuated.
C- The average incubation period is less than 4 weeks.
D- Aerophobia is pathognomonic.
E- Dumb rabies is acquired from bats.
Answer Question 31
A- False B- False C- False D- True E- True
Rabies enters via the bite, replicates in the muscle locally and spreads via the peripheral nerves to the brain where it replicates further.
The vaccine is a killed organism vaccine.
Rabies has an incubation period of 1-3 months on average, though it may be much longer.
Aerophobia is pathognomonic, but hydrophobia is seen in around half of cases.
Dumb rabies is a form involving a symmetrical ascending paralysis and is spread by bats.

Question 32
The following are true regarding the enteroviruses.
A- They may cause an acute haemorrhagic conjunctivitis.
B- Coxsackie A and B are the most common causes of Ludwig’s angina.
C- They are the most common cause of aseptic meningitis.
D- Rotavirus is one of the enteroviruses.
E- The major cause of hand foot and mouth disease is Coxsackie A10.
Answer Question 32
A- True B- False C- True D- False E- False
Acute haemorrhagic conjunctivitis may be caused by enteroviral infection; with enterovirus 70 identified in epidemics. Adenovirus classically causes epidemic conjunctivitis.
Ludwig’s angina is a diffuse infection of the submandibular and sublingual spaces, and is usually bacterial.
Coxsackie A and B are the most common causes of Herpangina.
The enterovirus include Poliovirus, coxsackie viruses A and B, echoviruses and enteroviruses.
Coxsackie A16 is the major cause of hand and mouth disease.

Question 33
Urea cycle defects
A- Ar associated with raised serum ammonia levels.
B- Initial diagnosis is usually made by plasma amino acid profile and urine orotic acids.
C- Include isovaleric acidaemia.
D- Are all Autosomal recessive disorders.
E- May present with developmental delay.
Answer Question 33
A- True B- True C- False D- False E- True
Urea cycle defects are a group of disorders involving defects of metabolism of ammonia in the urea cycle. They includecarbamylphosphate synthetase deficiency (CPD), ornithine transcarbamylase deficiency (OTC), arginosuccinate synthetase (AS) deficiency, arginossuccinate lyase (AL) deficiency, arginase deficiency and N-acetylglutamate synthetase deficiency.
Initial investigations include a significantly raised serum ammonia level (usually >200 micro mol/l). plasma amino acid profile and urine orotic acid analysis usually make the initial diagnosis, which is confirmed by enzyme analysis.
Long-term management is with dietary protein restriction, avoidance of catabolic states and individual supplements.

Question 34
Chondrodysplasia punctata is seen in.
A- Contradi-Hunermann syndrome.
B- Citrullinaemia.
C- Zellweger syndrome.
D- X-linked adrenoleucodystrophy.
E- Warfarin toxicity.
Answer Question 34
A- True B- False C- True D- False E- True
Chondrodysplasia punctata is a stippled appearance of the epiphysis of bones which is apparent on X-ray. It is seen in a number of conditions including:
*Zellweger syndrome (a peroxisomal disorder).
*Rhizomelic chondrodysplasia punctata.
*Warfarin toxicity.
*Conradi-Hunermann.

Question 35
First line investigations in a metabolic screen include
A- Serum ammonia.
B- Urine amino acids.
C- Plasma amino acids.
D- Enzyme analysis from fibroblast culture.
E- Blood gas.
Answer Question 35
A- True B- False C- True D- False E- True
First line investigations in a metabolic screen include:
*serum urea and electrolytes, glucose, ketones, ammonia, liver function tests, clotting screen, lactate and amino acids.
*Blood gase.
*Urine: organic acids and ketones.
*CSF: lactate and glycine
Enzyme analysis is required for definitive diagnosis.

Question 36
Short stature may be caused by
A- Noonan syndrome.
B- An XYY karyotype.
C- Testicular feminisation syndrome.
D- Chronic illness, if disproportionate.
E- XY/XO mosaicism.
Answer Question 36
A- True B- False C- False D- False E- True
Noonan syndrome and XY/XO mosaicism (turner syndrome mosaicism) both cause short stature.
XYY does not result in short stature, and neither does testicular feminisation syndrome (now less confusingly known as androgen insensitivity syndrome). Chronic illness resuts in proportionate short stature. Disproportionate short stature is seen in bone dyscrasias, for example, achondroplasia.

Question 37
In polycystic ovary syndrome.
A- There may be secondary amenorrhoea.
B- There is early onset osteoporosis.
C- There is a raised FSH:LH ratio.
D- Prolactin is moderately raised.
E- The oral contraceptive pill may be used in treatment.
Answer Question 37
A- True B- False C- False D- True E- True
Polycystic ovary syndrome is a condition involving multiple small ovarian cysts and hormonal imbalance. The clinical features include secondary amenorrhea or menstrual irregularity, hirsutism, obesity, acne and infertility. Osteoporosis is not a feature. There is mild hyperprolactinaemia, and a raise LH level, with a raised LH:FSH level. Testosterone levels are moderately raised and may be normal.
The oral contraceptive pill may help, and the anti-androgen cyproterone may be used.

Question 38
In type I diabetes mellitus.
A- First presentation in children is usually under the age of 4 years.
B- Presentation is most common in winter.
C- Most children have islet cell antibodies on first presentation.
D- A sibling of a child with the disease has a 1 in 40 risk of developing it also.
E- There is an association with H1ADR4
Answer Question 38
A- False B- False C- True D- False E- True
Type 1 diabetes mellitus most commonly presents in older children, though can occur at any age. It most commonly presents in the spring and autumn. About 80% of children have islet cell antibodies on first presentation. The disease is associated with HLA B8. DR3 and DR4.
Sibilings have a 1 in 20 chance of developing the disease. The risk for a child developing the disease is increased if a parent has it, and the risk is greater if the father has it.

Question 39
Infants of diabetic mothers are at risk of the following.
A- Respiratory distress syndrome.
B- Sacral agenesis.
C- Hyperglycaemia.
D- Polycythaemia.
E- Hypoplastic left colon
Answer Question 39
A- True B- True C- False D- True E- True
Infants of diabetic mothers have a 3 times increased risk of congenital malformations. In particular they may have macrosomia, Hypoplastic left colon, sacral agenesis and congenital heart disease. The neonate is at increased risk of respiratory distress syndrome, Polycythaemia and hypoglycaemia.

Question 40
Regarding aniridia
A- Cataract is often associated.
B- Visual acuity is unaffected.
C- It may be seen with chromosome 11p deletions.
D- It is mostly sporadic.
E- All patients should be screened with regular renal ultrasound scans.
Answer Question 40
A- True B- False C- True D- False E- True
Aniridia may be inherited as autosomal dominant, with chromosome 2p or chromosome 11p deletions. It may be also inherited as Autosomal recessive, and about a third of cases are sporadic. Cataract is often associated and visual acuity is markedly reduced. There may be Nystagmus and macular hypoplasia. There is a strong association with Wilms tumour, both in the inherited chromosome 11p deletion and in the sporadic forms, and therefore screening with renal ultrasound scans is necessary.

Question 41
Absence seizures.
A- Usually last less than 30 seconds.
B- Usually are preceded by an aura.
C- If typical, may involve myotonic movements.
D- May have a post-ictal state.
E- A typical 1 per second spike and wave pattern is seen on the EEG.
Answer Question 41
A- True B- False C- False D- False E- False
Absence seizures if typical last less than 30 seconds are not preceded by an aura and do not have a post-ictal state. Complex absence seizures may have a motor component such as myotonic movements.
A 3 per second spike and wave pattern is seen on the EEG.

Question 42
The following may cause acute ataxia.
A- Varicella infection.
B- Phenytoin.
C- Joubert disease.
D- Cerebellar tumour.
E- Abetalipoproteinaemia.
Answer Question 42
A- True B- True C- False D- True E- False
Acute cerebellar ataxia may be caused by varicella infection as a post-infectious as a post-infectious event and phenytoin therapy where it is a sign of toxicity. A cerebellar tumour may result in acute ataxia if there is a bleed in to it. Though usually it is a cause of chronic ataxia. Joubert disease and Abetalipoproteinaemia are cause of chronic ataxia. The latter secondary to vitamin E deficiency.

Question 43
In myasthenia gravis.
A- Edrophonium is used in treatment.
B- The external ocular muscles are unaffected.
C- There is an association with HLA-B8, DR3.
D- There are IgA antibodies to acetylcholine receptors.
E- The baby of a mother with myasthenia gravis may develop a transient form of the disease.
Answer Question 43
A- False B- False C- True D- False E- True
In myaeshenia gravis, edrophonium is used to diagnose the condition, an result in a short-lived relief from the symptoms. The external ocular muscles are affected and there is diplopia and a partial ptosis. It is associated with HLA-B8,DR3. there are IgG antibodies to acetylcholine receptors. Infants may develop a transient form of the condition as the antibodies cross the placenta.

Question 44
Legg-Calve-Perthes disease
A- Involves aseptic necrosis of the tibial tubercle.
B- Is 5 times more common in males than females.
C- Is bilateral in arround half of cases.
D- Is generally managed conservatively in a child under 6 years.
E- Is one of the osteochodritides
Answer Question 44
A- False B- True C- False D- True E- True
Legg-calve-perthes disease is one of the osteochondritides. It involves aseptic necrosis of the femoral head. It is 5 times more common in males. It is bilateral in around a fifth of cases. Children under 6 years are generally managed conservatively, while those over 6 are managed with exercises and bed rest, abduction casts and osteoctomy if necessary.

Question 45
Concerning iron poisoning.
A- Activated charcoal is of proven benefit.
B- Clinical improvement at a few hours will result in a better outcome.
C- Pyloric stenosis is a well recognised complication.
D- Severe hepatic necrosis may occur within 24 hours.
E- Desferrioxamine can be given orally
Answer Question 45
A- False B- False C- True D- False E- False
Activated charcoal is not of proven benifit, but stomach washout can be helpful. Apparent early clinical recovery may lead to a false sense of security, as later degeneration can occur. Pyloric stenosis can occur 2-4 weeks later as a result of scarring from local irritation. Hepatic necrosis can occur but if it does it takes 2-4 days for the cytochrome enzymes to cease to function, and for cell death to ensue. Oral desferrioxamine should not be given as it may theoretically increase iron absorption and is expensive.

Question 46
Regarding anticonvulsants.
A- The anti-epileptic effect of intravenous diazepam lasts 60-90 minutes.
B- Phenytoin appears to reduce cognitive function more than carbamazepine or sodium valporate.
C- The estimated risk of congenital malformations in women receiving phenytoin during pregnancy is around 2%
D- A transient leucopenia and thrombocytopenia occurs in up to 10% of patients on carbamazepine.
E- Phenytoin as used for absence seizures.
Answer Question 46
A- False B- True C- False D- True E- False
Intravenous diazepam is effective for only 20-30 minutes (i.e. enough time for phenytoin to be given). A recent study in the USA found that phenytoin appears to reduce cognitive function more than carbamazepine or sodium valporate. There is an estimated 10% risk of the foetal hydantoin syndrome (craniofacial and limb abnormalities) in infants of women on chronic phynytoin therapy. However, a severe agranulocytosis and aplastic anaemia is seen in 1 in 500.000. absence seizures are managed with Ethosuximide and sodium valporate.

Question 47
Dopamine.
A- Has a half-life of 2 minutes.
B- Causes release of nor-adrenaline from nerve endings.
C- Increases renal blood flow.
D- Is inactivated by acidic solutions.
E- Exerts inotropic action via B1 receptors.
Answer Question 47
A- True B- True C- True D- False E- True
Dopamine has a short half-life and therefore an infusion is necessary. A plateau is reached by 5 half-lives (i.e. about 10 minutes). It increases renal blood flow via dopamine receptors on the renal arteries. Alkaline, not acidic, solutions such as bicarbonate will inactivate dopamine.

Question 48
The following concerning vincristine are true.
A- Bone marrow suppression occurs about 48 hours after treatment.
B- A transient neuropathy is a recognised side-effect.
C- Extravasation generally causes little problem.
D- It is cell cycle specific for the M-phase.
E- The dose needs increasing in biliary tract disease.
Answer Question 48
A- False B- True C- True D- True E- False
Bone marrow suppression starts at around 7 days and peaks at 10-14 days, returning to normal within 21-28 days. A polyneuropathy is typically seen, although SIADH, autonomic dysfunction and cortical blindness are all reported. Vincristine is extremely toxic to tissues and extravasation requires urgent action. Pain, swelling and poor blood return should be looked for. Vincristine binds to the mitotic spindle during the M-phase causing its termination. Vincristine is metabolised via the liver and therefore the dose should be reduced in biliary tract disease.

Question 49
Waardenberg syndrome
A- Includes deafness in 80% of cases.
B- Includes vitiligo.
C- Type II is caused by mutations in the PAX3 gene.
D- Includes mental retardation.
E- Is associated with Hirschsprung’s disease

Answer Question 49
A- True B- True C- True D- False E- False
Waardenberg syndrome involves partial albinism, not vitiligo. The albinism usually involves a white forelock and pale blue or heterochromic irises. The hair become prematurely grey or white. Deafness is present in 25% of type I cases, and 50% of type II cases.
The disorder has been classified in to type I (including lateral displacement of the inner canthi) caused by mutations in the PAX3 gene on chromosome 2q35. and type II (no inner canthi displacement) caused by mutations in the human microphthalmia gene at chromosome 3p12.3-14.1. both types of Autosomal dominant inheritance.
Hirschsprung’s disease may be associated along with oesophageal and anal atresia…

Question 50
Systemic-onset juvenile chronic arthritis.
A- Is a clinical diagnosis of exclusion.
B- Classically involves a salmon-pink rash.
C- Amyloidosis is a late feature.
D- RhF is usually positive.
E- A polyarthritis rarely occurs.
Answer Question 50
A- False B- False C- True D- True E- True
Systemis-onset JCA is of equal sex incidence and may occur at any age of childhood. It is a clinical diagnosis, and the differential diagnosis include lymphoma, other malignancies, vasculitis, infection and other connective tissue diseases.
Clinical features are intermittent fever, a variable rash which is classically salmon-pink, however, myalgia, Arthralgia, hepatosplenomegaly, and lymphadenopathy. Pericardial effusions may occur. A polyarthritis occurs within a few months of disease onset in around half of cases. Late features do include Amyloidosis, as well as short stature and Micrognathia.
ANA and RhF are negative…

Question 51
In juvenile onset dermatomyositis
A-‘En coup de sabre’ lesion on the forehead may be seen.
B-There is a low mortality if untreated.
C-It is associated with DQA1 *0501.
D-A heliotrope violaceous rash over the eyelids is pathognomonic.
E-Subcutaneous calcium deposits may be seen.
Answer Question 51
A- False B- True C- True D- True E- True
Juvenile onset dermatomyositis is a multisystem disease with inflammation of striated muscle and cutaneous lesions. The HLA association include B8, DR3 and DQA1*0501. if untreated, the mortality is high (up to 40%) but if treated, it is around 2-5%, though many (30-40%) will remain disabled. Clinical features include muscle pain with proximal muscle weakness and dysphagia, palatal regurgitation and respiratory muscle weakness. Cutaneous features include the heliotrope rash over the eyelids which is pathognomonic. Nail fold capillaries are also seen (look hard for these), and Grotton papules (red lumps over the DIP, PIP and knee joints). A butterfly rash over the face may be seen and subcutaneous calcium deposits may occur and these may extrude. Other features include joint involvement (Arthralgia, arthritis and contractures), gastrointestinal (ulcerations and bleeding), myocarditis, nephritis, CNS disease, interstitial lung disease, pulmonary haemorrhage, hepatosplenomegaly and retinitis.

Question 52
Causes of blue sclerae include
A- Ehler Danlos Syndrome.
B- Osteogenesis imperfecta type IV.
C- Marble bone disease.
D- Pseudoxanthoma elasticum.
E- Phenylketonuria.
Answer Question 52
A- True B- False C- False D- True E- False
Blue sclera are seen in a number of diseases, involving defects in collagen. These include: Ehlers-Danlos syndrome, Marfan’s syndrome, Pseudoxanthoma elasticum and Osteogenesis imperfecta types I,II and III (type III variable).
In phenylketonuria, blue irises are seen if the disease is untreated.

Question 53
The polymerase chain reaction.
A- Is a technique to sequence DNA.
B- Can be used on very long DNA sequences (i.e.several kb long).
C- May be used in antenatal chorionic villous sampling.
D- Involves cycles of heating and cooling.
E- May be used on DNA in a sample of blood stain that is several years old.
Answer Question 53
A- False B- False C- True D- True E- True
The polymerase chain reaction (PCR) is a technique to rapidly make millions of copies of DNA which can then be used for analysis. It makes it possible to analyse DNA from very small sample of blood (i.e. a blood stain which may be several years old). PCR can be employed in antenatal chorionic villous sampling to enable rapid diagnosis (diagnosis in one day rather than one week). PCR can not amplify very long sequences, and thus con not be used to detect very large deletions.
The technique of PCR involves heating genomic DNA to denature it and produce single strands. Then the DNA is exposed to primer sequences which anneal to the complementary base pairs as the DNA is cooled to an annealing temperature. These primers flank the region of interest. The reaction is then heated to an intermediate temperature, and the primer sequence is extended as a base pairs are added by DNA polymerase. This double stranded DNA is heated again to denature it. The heating cooling cycle is repeated, and the newly formed DNA acts as a template for further DNA formation. Thus the number of copies doubles in each cycle by a chain reaction , and millions of copies of the original DNA are formed after several repeat cycles.

Question 54
Diseases associated with tri-nucleotide repeat expansions include.
A- Friedreich’s ataxia.
B- Miller-Dieker syndrome.
C- Huntington’s disease.
D- Myotonic dystrophy.
E- Myoclonic epilepsy with ragged red fibres (MERRF)
Answer Question 54
A- True B- False C- True D- True E- False
Trinucleotide repeat expansion is seen in some inherited conditions, and successive generations may become more severely affected as the expansion occurs. The diseases associated with Trinucleotide repeat expansion include:
*Huntington’s disease, spinocerebellar ataxia type 1,2,3 and 6 (CAG repeat sequence, expansion occurs more often through the father) and myotonic dystrophy (CTG) and Fragile X syndrome (CGG) (expansion through the mother), and Friedreich’s ataxia (GAA) repeat sequence, expansion through either parent.
*Miller-Deiker is a microdeletion syndrome of chromosomal deletion 17p13.3.
*MERRF is a mitochondrial DNA mutation disease.

Question 55
The following are true of Trisomy 21.
A- PDA is the commonest cardiac anomaly seen.
B- Hypotonia is common in infancy.
C- Risk of recurrence is 100% if a parent has the translocation 21:21.
D- The genetic cause is non-disjunction in approximately 75% of cases.
E- Karyotyping is essential
Answer Question 55
A- False B- True C- True D- False E- True
Trisomy 21 (Down’s syndrome) has an overall incidence of 1:650. The risk increases with maternal age, with an incidence of 1:100 to those of age 40 years. The genetic causes are non-disjunction (95%), Robertsonian translocation (4%) and mosaicism (1%).
Variable recurrence risk is seen, depending on the cause, and for this reason it is essential that chromosome studies are done.
For non-disjunction, the risk of recurrence is 1:200 if mother <35,>35years.
In Robertsonian translocation the recurrence risk is 10-15% if the mother is the carrier, and 2.5% if the father is the carrier. The risk is 100% if a parent carries the translocation 21:21. the risk is >1% if neither parent carries a translocation.
Hypotonia is a consistent feature in infancy, occurring in approximately 80% of babies, and improving with age. Cardiac anomalies occur in 40% of infants. The commonest type is AVSD, then VSD, then PDA and then ASD.

Question 56
Regarding significance tests.
A-A paired t-test is used to compare two independant samples.
B-The Mann-Whitney test is used on parametric data.
C-The unpaired t-test is used on non-parametric data.
D-Wilcoxon is the non-parametric equivalent of the paired t-test.
E-The Chi-squared test may be used on parametric or non-parametric data.
Answer Question 56
A- False B- False C- False D- True E- True
*The paired t-test is used to compare two dependant samples.
*The Mann-Whitney test is used on non-parametric data.
*The unpaired t-test is used on parametric data.
*Wilcoxon is the equivalent of the paired t-test used on non-parametric data.
*The Chi-squared test may be used on frequencies obtained from parametric or non-parametric

Question 57
In Erb’s palsy.
A- The injury is to the C7,C8 and T1 nerve roots of the brachial plexus.
B- The arm is classically held in the Waiter’s tip position.
C- There is a wrist drop.
D- All will recover fully over weeks to months.
E- Physiotherapy is necessary to prevent contractures.
Answer Question 57
A- False B- True C- False D- False E- True
Erb’s palsy results from damage to the upper nerve roots (C5 and C6) of the brachial plexus. The arm is held in abduction, with the elbow extended, the forearm pronated and the wrist flexed (the waiters tip position). A wrist drop occurs in Klumpke’s palsy. Most , but not all will recover fully after several months. Physiotherapy is necessary, and prevents contractures developing.

Question 58
The following are true of infants of maternal drug abusers.
A- Rhinorrhea is a feature of drug withdrawal.
B- Decreased sensory stimuli have a beneficial effect on the drug-withdrawing infant.
C- Lacrimation is increased.
D- The infants have an increased metabolic rate.
E- There is an increased risk of SIDS.
Answer Question 58
A- True B- True C- True D- True E- True
Infant of maternal drug abuses show many signs of drug withdrawal for which they need to be monitored and managed. Increased Lacrimation and rhinorrhea are features of drug withdrawal. These infants have an increased basal metabolic rate. They are managed with conservative measures which include decreased sensory stimuli, frequent feeds and swaddling. Drug treatment may be with opiates and sedatives as necessary. These infants are at increased risk of SIDS.

Question 59
The following are causes of unconjugated neonatal hyperbilirubinemia.
A- Biliary atresia.
B- Gilbert’s disease.
C- Alagille syndrome.
D- Hirschsprung’s disease.
E- Galactosaemia.
Answer Question 59
A- False B- True C- False D- True E- True
Unconjugated neonatal hyperbilirubinaemia may be caused by Gilbert’s syndrome, Hirschsprung’s disease and galactosaemia. Biliary atresia and Alagille syndrome cause conjugated hyperbilirubinaemia.

Question 60
Regarding neonatal seizures.
A- They are usually terminated if the limb is held.
B- If myoclonic, they often indicate a severe brain disturbance.
C- Most neonatal seizures are obvious.
D- There are usually EEG changes.
E- They may respond to riboflavin.
Answer Question 60
A- False B- True C- False D- False E- False
Neonatal seizures are often difficult to recognise, and may present simply as apnoea. One way of differentiating them from jitteriness is that they do not stop if the limb is held myoclonic seizures are concerning as they often indicate a severe underlying abnormality.
Most neonatal seizures are not obviously associated with EEG changes. A few seizures will be due to pyridoxine deficiency and respond to its replacement.

Dr.Kamel Hassan Pediatric Questions&Answers- Group 1

2008-08-29T09:16:00.000-07:00

DR.KAMEL PEDIATRIC QUESTIONS AND ANSWERS/ GROUP 1

Question 1
An ostium premium ASD
A- Results in right axis deviation(RAD) on the ECG.
B- Is seen in Holt-Oram syndrome.
C- Is the most common form of ASD.
D- May be left to close spontaneously.
E- Reverse splitting of the 2nd heart sound occurs.
Answer Question 1
A- False B- False C- False D- False E- False
An ostium premium results from failure of development of the septum premium. And there is usually also a cleft in the anterior leaflet of the mitral valve. Ostium secondum defects are the most common type of ASD, and there are seen in Holt-Oram syndrome. Ostium premium defects are associated with Down syndrome and Ellia-van-Creveld syndrome. The defect may be asymptomatic, but can result in heart failure and recurrent pneumonia.
There is a pan-systolic mitral regurgitation murmur, and there is fixed wide splitting of the 2nd heart sound. These defects, unlike many VSDs, require surgical repair..

Question 2
In Wolf-Parkinson-White (WPW) syndrome
A- There is a risk of ventricular tachycardia.
B- Presentation may be with hydrops foetalis.
C- Type a is seen in association with Ebstein’s anomaly.
D- Flecanide reduces the recurrence risk of tachycardias.
E- The ECG shows a narrow QRS complex.
Answer Question 2
A- True B- True C- False D- True E- False
Wolf-Parkinson-White(WPW) syndrome is a congenital condition resulting from an abnormal connection between the atria and ventricles.
The ECG has a short PR interval. Wide QRS complexes and a delta wave. There are two types: (a) and (b).
Type (a) is the commonest, and is activation of the left ventricle via the accessory pathway. Type (b) activation of the right ventricle via the accessory pathway and occurs with Ebstein’s anomaly.
Intermittent episodes of Supraventricular tachycardia occur, and there is a risk of VT .
Presentation may be with hydrops foetalis or intra-uterine death if there is in-utero tachycardia.
Flecanide can be used to stop the tachycardia and to reduce the risk of recurrence of tachycardia.

Question 3
In Tetralogy of Fallot
A- Cyanosis is reduced by taking a hot bath.
B- Cyanosis is often present in the first few days of life.
C- There is a right sided aortic arch in about 50% of cases.
D- The murmur becomes softer during a cyanotic spell as flow through the pulmonary valve is increased.
E- There is an association with DiGeorge syndrome.
Answer Question 3
A- False B- False C- False D- False E- True
Tetralogy of Fallot is the most common congenital cyanotic heart condition. It may present with cyanosis in the first few days of life, though this is rare. Usually it presents as a murmur detected in first few months of life or as hypercyanotic spells in late infancy.
A hot bath will increase cyanosis, as the vasodilatation results in a decrease in the peripheral vascular resistance, and so the flow through the pulmonary artery decreases, and cyanosis increases. During a cyanotic spell the decrease (not increase) in flow through the pulmonary artery results in the murmur becoming softer or inaudible.
There is a right sided aortic arch in about 30% of cases.
Tetralogy of Fallot associated with DiGeorge syndrome , and with Down’s syndrome, CHARGE syndrome and VACTERL syndrome.

Question 4
Regarding infective endocarditis
A- It is commonly seen with atrial septal defects(ASD).
B- It can be associated with aneurysms of the cerebral arteries.
C- Osler’s nodes are commonly seen.
D- Splitter haemorrhages are present in about 25% of cases.
E- It is caused by staphylococcus aureus in about half of the cases of acute endocarditis.
Answer Question 4
A- False B- True C- False D- False E- True
Infective endocarditis is seen particularly with congenital heart disease and on previously damaged and prosthetic valves.
It is very uncommon in atrial septal defects, and is seen with high flow defects.
Mycotic aneurysms can occur in both central and peripheral arteries.
Osler’s nodes and splinter haemorrhages are both seen uncommonly.
Staphylococcus aureus causes about half of the acute cases. Streptococcus viridans causes about half of the cases of subacute bacterial endocarditis.

Question 5
Lymphocytic interstitial pneumonitis(LIP)
A- Is uncommon in vertically acquired HIV infection.
B- Is due to a protozoal infection.
C- Is seen on chest X-ray as a perihilar infiltration in a butterfly distribution.
D- May be associated with hepatosplenomegaly.
E- Steroid therapy is always necessary.
Answer Question 5
A- False B- False C- False D- True E- False
Lymphocytic interstitial pneumonia (LIP) is a disease of unknown aetiology. It is seen most commonly in children who have vertically HIV infection. The chest X-ray findings are of a diffuse infiltration and sometimes a perihilar lymphadenopathy also. There may be associated hepatomegaly, generalised lymphadenopathy or pancreatitis. Steroid therapy is only necessary if symptomatic to reduce oxygen requirement and increase exercise tolerance.

Question 6
In cystic fibrosis
A- The underlying defect in sodium channel function
B- The immune reactive trypsin (IRT) may be checked on the Guthrie card.
C- In most cases the genetic defect is a loss of Valine at position 508 on chromosome 7
D- A sweat test with a sodium content above 40 mmol/l is diagnostic
E- A false positive sweat test may be seen in Ectodermal dysplasia
Answer Question 6
A- False B- True C- False D- False E- True
In cystic fibrosis , the underlying defect is in a chloride channel blocker, cystic fibrosis transmembrane regular (CFTR) . The chromosome defect is loos of phenylalanine at position 508 on chromosome 7 in around 80% of cases. The immune reactive trypsin (IRT), used in diagnosis of those under 3 months can be checked on the Guthrie card.
The sweat sodium concentration is the definitive test and this is diagnostic if on two tests the sodium is above 60mmol/l. False positive sweat tests are seen in Ectodermal dysplasia.

Question 7
Regarding severe respiratory compromise
A- Subcostal and intercostal recession are more significant signs of respiratory compromise in infants than in school age children
B- Respiratory failure is second only to cardiac failure as the commonest cause of cardiac arrest in children
C- The loudness of the respiratory wheeze corresponds directly with the severity of the bronchospasm
D- In inspiratory failure treatment should only be given after examination
E- Oxygen given via nasal canula results in a constant inspired oxygen concentration.
Answer Question 7
A- False B- False C- False D- T False E- False
Infants have softer, more compliant ribs, resulting in recession more easily, therefore recession in an older child is more significant.
About 85% of cardiac arrests in children are due to respiratory failure.
The loudness of a wheeze is dependant on both airway diameter and flow. A softening of wheeze may indicate a tiring child (with reduced airway flow).
Basic resuscitation in inspiratory failure should be done prior to detailed examination.
Oxygen delivery is variable when given via nasal canula.

Question 8
Associations of Coeliac disease include
A- Epilepsy with posterior cerebellar calcification
B- IgA nephropathy
C- Oesophageal carcinoma
D- Addison’s disease
E- Sjogren’s syndrome
Answer Question 8
A- True B- True C- True D- False E- True
IDDM and thyroiditis are endocrine associations but Addison’s disease is not recognised as such, although there is a predominance of autoimmune diseases.

Question 9
Hirschsprung’s disease
A- Is inherited in an Autosomal recessive fashion
B- Is due to unopposed parasympathetic activity in the affected segment of the bowel
C- Has an equal incidence in girls and boys
D- It seen more frequently in children with Down’s syndrome than in the general population
E- Presents in more than 80% in the neonatal period
Answer Question 9
A- False B- False C- False D- True E- True
Polygenic inheritance, male>female. Increase in sympathetic activity is due to absence of parasympathetic ganglions in the plexi of Auerbach and Meissner.

Question 10
The following more commonly occur in Crohn’s disease than Ulcerative colitis
A- Erythema nodosum
B- Pyoderma gangrenosum
C- Ankylosing spondyloarthropathy with HLA B27
D- Uveitis
E- Cholangiocarcinoma
Answer Question 10
A- True B- False C- False D- False E- True
Eye complications occur equally, sclerosing cholangitis, chronic active hepatitis, cirrhosis, and pericholangitis are all commoner in UC.

Question 11
Anorexia nervosa
A- Is more common than bulimia
B- Can have a low T4 in the presence of a normal T3
C- Can demonstrate a raised growth hormone
D- May have a hypochloraemic hypokalaemic alkalosis
E- Is associated with diarrhea more commonly than constipation
Answer Question 11
A- False B- False C- True D- True E- False
T3 is more often low with an apparently T4. Diarrhea may occur with laxative abuse but constipation is commonest with inherent hypomotility of the gut.

Question 12
The following are causes of haematuria in childhood
A- Alport’s syndrome
B- E.coli 0157
C- Factor V leiden deficiency
D- Alpha thalassaemia
E- Rapid increase in intracranial pressure.
Answer Question 12
A- True B- True C- True D- False E- False
Haemolytic uraemia syndrome may be triggered by E.coli 0157. Factor V leiden deficiency is present in up to 10% of the Caucasian population and results in a pro-coagulation tendency, which in turn may lead to renal thrombosis and haematuria.

Question 13
Henoch-Schönlein purpura
A- Has a preponderance for late Winter and early Summer
B- Exhibits a male-female ratio of 2 – 1
C- Is associated with a raised IgA in over 40%
D- May cause death from pulmonary haemorrhage
E- Is associated with a prolonged bleeding time
Answer Question 13
A- True B- True C- True D- True E- False
IgA is raised in over 50%. It is a vasculitic phenomenon and this is the cause of the rash , rather than any abnormality of coagulation or platelet function which may lead to a prolonged clotting or bleeding time. Death from massive pulmonary haemorrhage is reported although rare. Opinion on the use of steroids in children with abdominal pain is still divided, as it was felt that they mask the pain associated with intussusception.

Question 14
Fanconi’s syndrome
A- Is associated with cystinuria
B- Is usually associated with a haemoglobin <10g/dl>Answer Question 14
A- False B- False C- True D- True E- True
Cystinosis is associated with Fanconi’s syndrome. Do not get Fanconi’s anaemia confused with Fanconi’s syndrome.

Question 15
In a child with minimal change nephritic syndrome
A- Penicillamine is a recognised cause
B- A history in the previous 6 weeks of a streptococcal illness is likely
C- The albumin : creatinine ratio is > 200mg/mmol
D- Initial management is prednisone 90mg/m2/day
E- Abdominal pain requires parenteral penicillin and a watch and wait policy
Answer Question 15
A- False B- False C- True D- False E- False
Penicillamine causes membranous GN. Most cases of minimal changes GN are idiopathic. Initial treatment is prednisone 60mg/m2/day until on Proteinuria then alternate days for 4 weeks, but if no response then a renal biopsy is advocated. Abdominal pain is a medical emergency and may indicate hypovolaemia requiring urgent correction, or major vein thrombosis, or primary or pneumococcal peritonitis.

Question 16
In Alagill’s syndrome the features which are recognised include
A- Tuberous xanthomas and raised serum cholesterol
B- Progression to cirrhosis and chronic liver failure requiring liver transplant
C- Tubulointerstitial nephropathy
D- Tetralogy of Fallot
E- Abnormalities of peroxisomal function
Answer Question 16
A- True B- False C- True D- True E- False
If children with Alagille’s syndrome, usually inherited as an Autosomal dominant condition, and also called arteriohepatic dysplasia, require liver transplantation it is due to uncontrollable itching and poor quality of life rather than liver failure which is not common, Zellweger’s syndrome ( cerebrohepatorenal syndrome) is an example of a peroxisomal disorder but this group does not include Alagille’s syndrome. Features of Alagille’s syndrome include progressive intrahepatic bile duct paucity; intense pruritis, typical facies with Hypertelorism, deep set eyes, long nose, broad forehead and small mandible, posterior embryotoxon of the eyes, peripheral pulmonary stenosis and Fallot’s tetralogy; Tubulointerstitial nephropathy; butterfly vertebrae, tuberous xanthomas and raised serum cholesterol; and it occurs at an incidence of 1 in 100.000 live births. Gene mapping is now possible with a gene defect localised to chromosome 20p ( gene termed JAG1) coding for a ligand of Notch 1, which is one of a member of 4 transmembrane proteins.

Question 17
In paediatric liver disease portal hypertension
A- Occurs when portal pressure is elevated to 10-12mmHg
B- Results in cephalic flow of collaterals inferior to the umbilicus
C- May cause signs of spinal compression
D- May result from factor V leiden deficiency
E- Should be treated prophylactically with propranolol under the age of 12 years
Answer Question 17
A- True B- False C- True D- True E- False
Normal portal pressure is only 7 mmHg. Caput medusae results in blood flow away from the umbilicus. Perivertebral and perispinal collaterals may occur and in extremis may cause signs of spinal compression. Factor V leiden deficiency occurs in up to 10-15% of the Caucasian population and may result in hypercoagulation and hepatic or portal vein thrombosis. As younger children rely, in part, on an increase in their heart rate to counter hypovolaemia secondary to potential haemorrhage from varices, beta-blockers are not recommended to decrease portal pressure as this protective mechanism may therefore be compromised.

Question 18
In acute liver failure
A- Aminotransferase levels are not predictive of outcome
B- Due to sodium valporate therapy the chance for a neurologically intact outcome is very poor
C- Hyperventilation usually accompanies stage II–III hepatic encephalopathy and may result in respiratory alkalosis
D- Fluid restriction to <75%>Answer Question 18
A- True B- True C- True D- True E- True
A drop in AST/ALT (SGOT/SGPT) can reflect massive hepatocellular necrosis and little residual viable liver tissue. A mitochondrial cytopathy uncovered by sodium valporate is usually responsible for Fulminant liver failure in this instance and therefore multisystem involvement including neurological precludes survival even with liver transplant in nearly all cases.
Metabolic acidosis may occur, but respiratory alkalosis also occur in sage II – III encephalopathy. Coagulation is a good indicator of liver function and should not be artificially supported unless necessary. Vitamin K and the liver’s response to it may yield useful information.

Question 19
In chronic liver disease in childhood the following are correct
A- Spironolactone is useful in the treatment of ascites at any age
B- A low plasma cholesterol is an adverse prognostic feature
C- Sleep reversal occurs as a feature of hepatic encephalopathy
D- There is an increased overall incidence of Hirschsprung’s disease
E- Spontaneous bacterial pneumonia is a potentially fatal complication of ascites.
Answer Question 19
A- True B- True C- True D- False E- True
Plasma cholesterol reflects liver synthetic function, like serum albumin and coagulation state, and if it is low this reflects worsening liver function and poorer prognosis. Neurodevelopmental delay, and other subtle symptoms such as school problems or lethargy can reflect chronic hepatic encephalopathy. Spontaneous bacterial peritonitis should always be suspected in children with ascitis, abdominal pain and fever. Paracentesis reveals cloudy fluid with a neutrophil count of >250/ml.klebsiella, E.coli or strep, pneumoniae predominant.

Question 20
The following are features found in intravascular haemolysis
A- Red cell fragments
B- Haemoglobinaemia
C- Haemosiderinuria
D- Haemoglobinuria
E- Methaeoglobinaemia
Answer Question 20
A- True B- True C- True D- True E- True
All of the above are seen in intravascular haemolysis, which is the destruction of red cell within the circulation. The particular features of intravascular haemolysis are:
*Haemoglobinaemia
*Haemoglobinuria
*Haemosiderinuria
*Methaemoglobinaemia
*Red cell fragments

Question 21
Features of homozygous sickle cell disease include
A- Dactylitis
B- Presentation usually during the first few months of life
C- Increased incidence of Salmonella osteomyelitis
D- Proliferative retinopathy
E- Pigment gallstones
Answer Question 21
A- True B- False C- True D- True E- True
Homozygous sickle cell disease does not usually present in infancy, features include painful crises, haemolytic crises, acute sequestration and aplastic crises. Painful crises (vascular-occlusive)occur in the bones (most common). The other organ may also be involved including the kidney, liver, spleen, heart, brain and chest. Painful swollen fingers (Dactylitis) may be seen, with bony infarcts resulting in different length fingers. Other features include pigment gallstones, leg ulcers, salmonella osteomyelitis and proliferative retinopathy.

Question 22
A prolonged bleeding time is seen in
A- Von Willebrand’s disease
B- Bernard-Soulier syndrome
C- Glanzmann’s disease
D- Hermansky-Pudlak syndrome
E- Haemophilia B
Answer Question 22
A- True B- True C- True D- True E- False
The bleeding time measures platelet plug formation in vivo, A prolonged bleeding time is seen in thrombocytopaenia and in platlet function disorders. These include:
*Bernard-Soulier syndrome (Platelet adhesion defect, few large platelet)
*Glanzmann’s disease (failure of platelet aggregation due to a deficiency of membrane glycoproteins Hb and IIIa
*Hermansky-Pudlak syndrome (platelet function disorder and albinism)
*VonWillebrand’s disease (platelet adhesion abnormalities present)
*The bleeding time is normal in Haemophilia A and B

Question 23
The following are causes of neonatal thrombocytopaenia
A- Bernard-Soulier syndrome
B- Congenital rubella infection
C- Leukaemia
D- Renal vein thrombosis
E- Giant haemangioma
Answer Question 23
A- False B- True C- True D- True E- True
The causes of thrombocytopaenia in the neonatal period are many. They may be due to an increased consumption of platelets or decreased production.
Bernard-Soulier syndrome is a disorder of platelet function not numbers. Congenital infections can result in neonatal thrombocytopaenia, and the infant may have a purpuric rash. Neonatal leukaemia is a rare condition.
Renal vein thrombosis and giant haemangiomas result in platelet fall due to a consumptive coagulopathy.

Question 24
Osteosarcoma
A- Is a small round cell neoplasm
B- Has a predilection for the flat bones
C- Is associated with retinoblastoma
D- Is less common than Ewing’s sarcoma
E- X-ray findings include lytic lesions
Answer Question 24
A- False B- False C- True D- False E- False
Osteosarcoma is a spindle cell neoplasm (Ewing’s tumour is a small cell tumour). It occurs mainly in the metaphyses of the long bones, particularly the proximal femur and the distal tibia. It is associated with retinoblastoma and Osteogenesis imperfecta. It is more common than Ewing’s tumour.
The x-ray findings are sclerotic lesions and skip lesions (lytic lesions are seen in Ewing’s tumours).

Question 25
In acute myeloid leukaemia (AML)
A- Gum hypertrophy is a clinical feature of the M4 and M5 subtypes
B- Fanconi’s syndrome is associated
C- Auer rods are always seen
D- DIC is feature of the M3 (acute promyelocytic) subtype
E- Retinoic acid may be used as initial therapy in the M2 subtype
Answer Question 25
A- True B- True C- False D- True E- False
Acute myeloid leukaemia (AML) has many subtypes classified by the French-American-British (FAB) system. Gum hypertrophy is seen particularly in M4 and M5 types and DIC in M3 type. The M3 type has a good prognosis and may be treated with retinoic acid as initial therapy. Fanconi anaemia is associated with AML, as is trisomy 21 and Bloom syndrome. Auer rods are not always seen, depending on the type of ALL.

Question 26
Bruton’s X-linked a gammaglobulinaemia
A- Involves a mutation in the btk gene
B- Is inherited as Autosomal recessive
C- Is associated with unusual enteroviral infections
D- A block is present in the maturation of pre-B cells
E- Usually presents with pneumocytis carinii pneumonia
Answer Question 26
A- True B- False C- True D- True E- False
Bruton’s X-linked a gammaglobulinaemia is an x-linked recessive diorder of humoral immunity. The gene defect is a mutation in the btk gene which is on the X chromosome and results in an absence of tyrosine kinase. There is defective transformation of pre-B cells to B cells. The disease presents with recurrent bacterial infections and there may be unusual enteroviral infections (i.e. chronic encephalomyelitis ). Pneumocystis carinii infection is seen in T cell immunodeficiency. Regular immunoglobulin infusions (3-4 weekly) are necessary throughout life.

Question 27
In Job’s syndrome
A- IgM counts are very high
B- It is due to mutations in the intracellular kinase Jak3
C- Eczema is a feature
D- Small platelets are seen
E- Recurrent staphylococcal skin abscesses occur
Answer Question 27
A- False B- False C- True D- False E- True
Job’s syndrome (also known as Hyper IgE syndrome) is a syndrome of very high levels of IgE, eczema and recurrent staphylococcal abscesses in the skin, joints and lungs. Small platelets are seen in Wiskott-Aldrich syndrome. The mutations is Jak3 result in Autosomal recessive T-9, B+SCID

Question 28
The Haemophilus influenza b vaccine
A- Is composed of the polysaccharide coat and a protein
B- Provides protection against non-encapsulated organisms
C- Protects against epiglottitis
D- Is a live vaccine
E- Is effective in the neonate
Answer Question 28
A- True B- False C- True D- False E- False
The haemophilus influenza b (Hib) vaccine is composed of the polysaccharide coat and a protein to make it antigenic. It provides protection to the encapsulated organism haemophilus influenza. This protects from acute epiglottitis and meningitis. It is not a live vaccine. It is not effective in the neonate because maternal Hib antibodies interfere with its effect.

Question 29
Mumps
A- Is a DNA virus
B- Is a common cause of viral meningitis
C- Involves purely the submandibular gland in 20% of cases
D- Is a cause of pancreatitis
E- May cause myocarditis
Answer Question 29
A- False B- True C- False D- True E- True
Mumps virus is one of the paramyxoviruses which are RNA viruses. It is very common cause of viral meningitis.
It usually involves the parotid gland (60%) or both the parotid and submandibular. It is rare to be only involve the submandibular gland. It is a cause of both pancreatitis and myocarditis.

Question 30
Concerning malaria
A- Plasmodium vivax infects only the old red blood cells
B- Nephrotic syndrome can be seen in plasmodium malaria infection
C- Plasmodium falciparum has a latent phase in the liver
D- Sporozoites rupture to release merozoites in the blood
E- Primaquine is needed for eradication in plasmodium malariae
Answer Question 30
A- False B- True C- False D- False E- False
Plasmodium vivax and P.ovale affect the young red blood cells. P.malaria affect the old blood cells. Plasmodium falciparum does not have a latent phase in the liver unlike P.vivax and P.ovale. Schizont rupture releases merozoites. Primaquine is not needed for liver eradication in P.malaria infection as there is no latent phase in the liver.

Question 31
Regarding leprosy
A- The incubation period is 1-3 months
B- The lepromin test is negative in Lepromatous leprosy
C- The diagnosis is by culturing the organism in artificial media
D- The clinical disease is dependant on the immune status of the individual
E- Tuberculoid leprosy is seen in people with poor cell-mediated immunity
Answer Question 31
A- False B- True C- False D- True E- False
Leprosy is caused by Mycobacterium leprae. It is very slow growing and the incubation period is 3-5 years. The lepromin test is a measure of host resistance to disease, and is negative in Lepromatous leprosy where the host cell-mediated immunity is poor. The clinical features of the disease are dependent on the immune status of the host, and Tuberculoid leprosy is seen in people with a good immune response.

Question 32
In bacterial meningitis
A- CSF glucose : plasma ratio is high
B- Approximately one fifth of infants will present with seizures
C- Subdural effusions are rare
D- Kernig sign is almost always positive
E- Rifampicin is given to contacts of pneumonia meningitis
Answer Question 32
A- False B- True C- False D- False E- False
CSF Glucose : Plasma ratio is low in bacterial meningitis. Subdural effusions occur in 10-15% of cases of bacterial meningitis.
Kernig sign is often negative in children, especially young infants.
Up to a fifth of infants present with seizures, and a further fifth will have seizures later on.
Rifampicin is given to contacts of N.menigitidis and H.influenzae meningitis, but not S.pneumoniae.

Question 33
In galactosaemia
A- there is an incidence of 1 in 6000
B- The enzyme deficiency is glucose phosphorylase
C- There is an inability to metabolise galactose and lactose
D- Diagnosis is by red blood cell enzyme assay
E- Speech problems are almost inevitable even with therapy
Answer Question 33
A- False B- False C- True D- True E- True
Galactosaemia has an indicator of 1 in 60.000. The enzyme deficiency is of galactose-1-phosphate uridyl transferase (CAL-1-PUT). This results in an inability to metabolise galactose (and thus also lactose, which is made of glucose+galactose).
Clinical features include presentation as a neonate with vomiting, hypoglycaemia, feeding difficulties, neurological features and liver disorder. Diagnosis is by enzyme assay in RBCs. Non-glucose reducing substances are seen in the urine when milk fed (i.e.Clinitest positive, Clinistix negative). The Guthrie test for galactosaemia.
Management involves a lactose and galactose free diet. Speech-Language problems and ovarian failure though, are almost inevitable even with therapy.

Question 34
The mitochondrial disorders
A- May present at any age and by mode of inheritance
B- Include Pearson’s syndrome
C- Features may include retinitis pigmentosa
D- Include myoclonic epilepsy and ragged-red fibres (MERRF)
E- Elevated free-floating blood lactate supports the diagnosis
Answer Question 34
A- True B- True C- True D- True E- True
The mitochondrial disorders may indeed present at any age and by any mode of inheritance. They are usually Autosomal recessive. They include MERRF,pearson’s syndrome, MELAS(mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) syndrome and Leigh’s syndrome.
Diagnosis is suggested by an elevated free-floating blood lactate in the absence of sepsis, hypoxia, poor tissue perfusion or other metabolic disorder which causes high lactate. Diagnosis is confirmed by enzyme analysis.
Features are many and variable, and they include retinitis pigmentosa.

Question 35
X-linked adrenoleucodystrophy
A- Is a mitochondrial disorder
B- May present as Addison’s disease
C- Involves accumulation of short chain fatty acids
D- Involves progressive neuronal white matter degeneration
E- Lorenzo’s oil is curative
Answer Question 35
A- False B- True C- False D- True E- False
X-linked adrenoleucodystrophy is a peroxisomal disorder of very long chain fatty acid (VLCFA) oxidation. It result in progressive adrenal cortex and neuronal white matter degeneration, and the phenotype is variable. It may present with Addison’s disease, or it may present with neurological features (behaviour disturbance, developmental regression, ataxia, seizures, spasticity).
Diagnostic investigations include VLCFAs, adrenal cortical function tests, MRI brain scan and neuropsychiatric assessment.
Management is supportive with adrenal steroid replacement, anticonvulsants, NG or gastrostomy feeding. Supplementation with monounsaturated amino acids (Lorenzo’s oil) may be beneficial but is not curative.

Question 36
In congenital Hypothyroidism
A- Ectopic thyroid tissue is the commonest finding
B- Dyshormonogenesis accounts for around 25%
C- The incidence is around 1 in 6000
D- May result from maternal hyperthyroidism
E- Significant intellectual impairment is inevitable
Answer Question 36
A- True B- False C- False D- True E- False
Congenital hypothyroidism occurs with an incidence of around 1 in 4000. it is most commonly due to thyroid dysgenesis with ectopic thyroid tissue. Dyshormonogenesis accounts for only about 10% of cases. Maternal hyperthyroidism may result in congenital hypothyroidism through antibodies crossing the placenta, or from the antithyroid drugs. Significant intellectual impairment is avoidable if hormone therapy is instituted early.

Question 37
The following may result in diabetes insipidus
A- Craniopharyngioma
B- Carbamazepine
C- Demeclocycline
D- Neonatal listeriosis
E- The DIDMOAD syndrome
Answer Question 37
A- True B- False C- True D- True E- True
The cause of diabetes insipidus may be separated in to intracranial causes and nephrogenic causes. Craniopharyngioma and neonatal listeriosis are causes of intracranial diabetes insipidus. DIDMOAD syndrome stands for diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Demeclocycline can cause nephrogenic diabetes insipidus. Carbamazepine is used in the treatment of nephrogenic diabetes insipidus.

Question 38
Craniopharyngioma
A- Is one of the most common infratentorial tumours in childhood
B- May present with tall stature
C- May present with polyuria
D- Arises from a remnant of the connection between Rathke’s pouch and the oral cavity
E- Is associated with calcification on the skull x-ray in about 20%
Answer Question 38
A- False B- False C- True D- True E- False
Craniopharyngioma is one of the most common supratentorial tumours in childhood (not infratentorial). It may present with the hormonal effects of hypopituitarism, including growth failure, polyuria(due to diabetes insipidus), hypothyroidism and adrenocortical insufficiency. It arises from a remnant of the connection between the Rathke’s pouch and the oral cavity. In most cases there is calcification on the skull x-ray.

Question 39
In familial hypophosphataemic rickets
A- There is defective distal renal tubule reabsorption of phosphate
B- Levels of 1,25 dihydroxycholecalciferol are normal
C- Parathyroid hormone level are raised
D- Plasma calcium levels are high
E- The inheritance is Autosomal dominant
Answer Question 39
A- False B- False C- False D- False E- False
In familial hypophosphataemic rickets (also known as vitamin D-resistant rickets), there is defective proximal renal tubular reabsorption of phosphate, and reduced synthesis of 1,25-hydroxycholecalciferol. Plasma levels of PTH are normal, and calcium is normal or low. Plasma phosphate levels are low. The inheritance is x-linked dominant.

Question 40
Children high on the autistic spectrum
A- Demonstrate repetitive behaviour
B- Have distinctive abnormal findings on the EEG
C- Have delayed motor milestones
D- Have a good emotional contact with the mother but not with any strangers
E- Have normal speech development
Answer Question 40
A- True B- False C- False D- False E- False
Children with autism demonstrate repetitive behaviour, have poor eye contact with others, and have a very poor emotional bond with both their mother and other people. The EIG is usually normal. They have normal motor development, but their speech is delayed with difficulty understanding language.

Question 41
Febrile convulsion
A- Occur in 8 – 10% of children
B- Are more common in male than females
C- Typically occur between 6 months and 6 years
D- Are not associated with increased risk of later development of epilepsy
E- Are usually associated with a positive family history
Answer Question 41
A- False B- True C- True D- False E- False
Febrile convulsion occur in around 2-5%of children and are more common in males. They occur between 6 months and 6 years. They are associated with an increased risk of later development of epilepsy, particularly if atypical and there is a family history of epilepsy. There is a positive family history of febrile convulsion in around 30% of cases.

Question 42
Features of late infantile Batten disease include
A- Acute intermittent ataxia
B- Developmental regression
C- Diagnosis on rectal biopsy
D- X-linked recessive inheritance
E- Retinitis pigmentosa
Answer Question 42
A- False B- True C- True D- False E- True
Late infantile Batten’s disease (Ceroid Lipofuscinosis) is an Autosomal recessive condition. The features are normal early development then developmental regression from around 2-5 years. There is a chronic ataxia and retinitis pigmentosa can occur. Typical neurological features are seen on histology of rectal biopsy.

Question 43
In raised intracranial pressure
A- Drowsiness is seen with a rapidly increasing pressure
B- Convulsions are a common presentation
C- The headache is worse on movement
D- There may be a sixth nerve palsy
E- Signs take longer to develop in young children than in adults
Answer Question 43
A- True B- False C- True D- True E- True
Raised intracranial pressure may develop insidiously or rapidly and drowsiness is a feature of a rapidly rising pressure. Convulsions are an unusual presentation in children. The headache is worse on lying down and in the morning. There may be a sixth nerve palsy (a false localising sign). Signs take longer to develop in young children as the cranial sutures can widen.

Question 44
Slipped upper femoral epiphysis
A- Is seen in children age 5-10 years most commonly
B- Is associated with hypothyroidism
C- May present with knee pain
D- Is seen on hip x-ray with a narrowing of the growth plate
E- Shows decreased external rotation of the hip on examination
Answer Question 44
A- False B- True C- True D- False E- False
Slipped upper femoral epiphysis is seen most commonly in adolescent. It is associated with hypothyroidism and other pituitary dysfunction. It may present with referred pain from the knee. The hip x-ray shows widening of the growth plate as the head slip’s off the neck.
Examination reveals decreased internal rotation of the hip, and the hip is chronically externally rotated.

Question 45
The following concerning antimalarials are true
A- Chloroquine is always contraindicated in G6PD
B- Proguanil inhibits Folate production
C- Mefloquine causes neuropsychiatric symptoms in up to 10% of patients
D- Pyrimethamine resistance is low
E- Long term Chloroquine is associated with cataract
Answer Question 45
A- False B- True C- True D- False E- False
Chloroquine may be given in G6PD deficiency though haemolysis can occur in some forms of the disease, dapson and sulphur containing drugs should be avoided. Proguanil acts by inhibiting folate production, and the parasital cells can not utilise tetrahydrofolate from external sources unlike mammalian cells.
Pyrimethamine resistance is high and it is no longer recommended as prophylaxis for travellers. Long term Chloroquine is associated with corneal opacities and retinal damage.

Question 46
Doxorubicin
A- Is an anthracycline
B- Is more effective against solid tumours than daunorubicin
C- Is cardiotoxic to all patients
D- Binds to DNA
E- Is safe in patients with a history of shingles
Answer Question 46
A- True B- True C- True D- True E- False
Doxorubicin is a naturally occurring anthracycline and derived from streptomyces. It is effective against solid tumours and is part of the regime of many solid tumours. It induces free radical formation which cardiac cells specifically can not deal with; the clinical effects though are variable. Doxorubicin binds to DNA and alters the DNA helix shape, thus inhibiting DNA polymerase. There is a risk of sever infection with disseminated zoster in patients with a history of shingles.

Question 47
Liver enzyme inducers include
A- Carbamazepine
B- Rifampicin
C- Brussel sprouts
D- Phenytoin
E- Tobacco smoke
Answer Question 47
A- True B- True C- True D- True E- True
All of these are liver enzyme inducers, Brussel sprouts and barbecued meat both acts as liver enzyme inducers. Heavy smoking and drinking may account for a failure to respond to a normal drug dose.

Question 48
The following are true of salicylate poisoning
A- Hypokalaemia is a feature
B- Hypoventilation is an early feature
C- Vasodilatation is a feature
D- Coma indicate sever poisoning
E- Respiratory alkalosis is seen in children
Answer Question 48
A- True B- False C- True D- True E- True
Hypoventilation is a late feature of salicylate poisoning, and together with coma indicate sever poisoning. The acid-base disturbances are complex and both acidosis and alkalosis may occur. Salicylates have a direct stimulant effect on the respiratory centre resulting in hyperventilation and a respiratory alkalosis seen early on, though this stage may not be apparent in young infants.

Question 49
Mollusca contagiosa
A- Is caused by a pox virus
B- Is seen as a pearly papule with a central umbilicus
C- Spontaneous resolution is usual by 6 weeks
D- May be disseminated in a child with atopic eczema
E- May be treated with cryotherapy
Answer Question 49
A- True B- True C- False D- True E- True
Mollusca contagiosa is a common infection among school children caused by a pox virus. It presents as pearly papules with a central umbilicus. Spontaneous resolution usually occurs within 6-9 months, though the lesions can last for years. Disseminated infection may be seen in children with atopic eczema and in the immunosuppressed. No treatment is usually given as this can result in scarring, however, cryotherapy is a treatment option if necessary.

Question 50
Reiter’s syndrome
A- Is associated with campylobacter gastroenteritis
B- Responds well to antibiotics
C- Keratoderma blenorrhagica may be a feature
D- Usually resolves within a year of onset
E- Does not become chronic
Answer Question 50
A- True B- False C- True D- True E- False
Reiter’s syndrome is an acute reactive arthritis. It follows gastrointestinal infection (including campylobacter, shigella, yersinia, salmonella) or venereal infection (Chlamydia or NSU).
It has a high male preponderance, and is associated with HLA-B27 (80%).
Features include a lower limb arthritis, which may become chronic, ocular inflammation and a sterile urethritis. Other features are Keratoderma blenorrhagica, plantar fasciitis, entheseopathy, nail dystrophy and mouth ulceration. Treatment is with antibiotics, physiotherapy and NSAIDS.

Question 51
Regarding Kawasaki disease
A- It is a Polyarteritis
B- A fever of >37.5 c should be present for 5 days to make the diagnosis
C- Untreated, nearly 2% of children will develop coronary artery aneurysms
D- Intravenous immunoglobulin should be given within 3 weeks of onset of disease
E- A marked thrombocytopaenia is seen in the second and third week of disease.
Answer Question 51
A- True B- False C- False D- False E- False
Kawasaki disease is an infantile polyarthritis. The diagnostic criteria are a fever of > 38.5C for >5 days together with 4 of the following features:
*Bilateral non-purulent conjunctivitis.
*Oral mucosal changes.
*Cervical lymphadenopathy with one node>1.5 cm.
*Involvement of hands and feet with erythema, swelling or peeling of the palms and soles.
*Rash (polymorphus).
The child is usually extremely irritable, with cough or coryzal symptoms, and may have watery diarrhea.
Cardiac complications are significant cause of morbidity: coronary artery aneurysms occur in up to 20% of children who are not treated.
A thrombocythaemia is seen in the second and third weeks, and a high WCC and anaemia may be seen.
Management is with high dose intravenous immunoglobulin over 12 hours, which should be given within 10 days of disease onset. Aspirin is given for 6 weeks or until the coronary aneurysms are gone, which is assessed by echocardiogram at follow-up.

Question 52
Syndromes involving absent radii include
A- Stickler’s dysplasia
B- Holt-Oram syndrome
C- Ellis-Van Creveld syndrome
D- Fanconi anaemia
E- VATER syndrome
Answer Question 52
A- False B- True C- False D- True E- True
Syndromes involving absent radii include:
· Holt-Oram syndrome
· Fanconi anaemia
· VATER syndrome
· TAR syndrome
· Absent thumbs

Question 53
Features of Noonan syndrome include
A- Peripheral pulmonary stenosis
B- Ventricular septal defect
C- Ptosis
D- Mental retardation
E- Autosomal dominant inheritance
Answer Question 53
A- True B- True C- True D- True E- True
Noonan syndrome is inherited in an Autosomal dominant fashion, though most cases are sporadic. The appearance may be similar to Turner’s syndrome and features include:
*Mental retardation.
*Ptosis.
*Epicanthic folds.
*Hypertelorism.
*Down-slanting palpebral fissures.
*Cardiac defects: these include valvular pulmonary stenosis, PDA, VSD, and peripheral pulmonary stenosis.

Question 54
In embryological development of the lung
A- The lung bud is an outgrowth of the midgut
B- The respiratory bronchioles develop from 22 weeks gestation
C- The lung bud derives from mesodermal tissue
D- Type I pneumocytis produce surfactant
E- Surfactant production can be detected by 23 weeks gestation
Answer Question 54
A- False B- False C- False D- False E- True
The lung bud is an outgrowth from the foregut and derived fromm endodermal tissue. The respiratory bronchioles develop from about 17 weeks gestation and surfactant production can be detected by about 23 weeks gestation. The type II pneumocytis produce surfactant.

Question 55
Multifactorial inheritance
A- Is seen in the inheritance of pyloric stenosis
B- Involves both genetic and environmental factors
C- Means that the inheritance risk for relatives can not be estimated
D- Operates in the inheritance of neural tube defects
E- Risks for multifactorial inheritance increase if more family members are affected
Answer Question 55
A- True B- True C- False D- True E- True
Multifactorial inheritance involves both genetic and environmental factors. Many diseases have multifactorial inheritance including cleft lip and palate, pyloric stenosis, neural tube defects, club foot and congenital hip dislocation. Empirical recurrence risk are based on studies of large collections of families. The risk increases if more family members are affected, if the disease has more severe expression and if the affected case is a member of the less commonly affected sex.

Question 56
The following are true
A-A single blind trial indicates that neither the patient nor the assessor know which group a patient has been assigned to
B-The Chi-squared test is carried out using percentages
C-Randomisation will help eliminate selection bias
D-The median is the value which occurs most often
E-The incidence of a disorder is the number of the population suffering from a disorder at one point in time
Answer Question 56
A- False B- False C- True D- False E- False
A single blind trial is one in which either the patient or the assessor, but not both, does not know which group the patient has been assigned to.
The Chi-squared test is carried out using numerical data only and not percentages.
Randomisation will help eliminate selection bias because it ensures all patients should have an equal chance of being assigned to each group.
The median is the value which divides the range of values in to two equal parts.
The incidence of a disorder is the number of new cases occurring over a set period of time….

Question 57
Human breast milk
A- Contains less carbohydrate than cow’s milk
B- Contains less iron than cow’s milk
C- Is associated with an increased risk of haemorrhagic disease of the newborn
D- Has a higher casein to whey ratio than cow’s milk
E- Has more protein than cow’s milk
Answer Question 57
A- False B- False C- True D- False E- False
Human breast milk contains more carbohydrate, more iron, less protein than cow’s milk, and it has a lower casein to whey ratio.
It is a poor source of vitamin K and is therefore a risk factor for haemorrhagic disease of the newborn.

Question 58
The following conditions are associated with delayed closure of the anterior fontanelle
A- Achondroplasia
B- Apert syndrome
C- Hyperthyroidism
D- Progeria
E- Malnutrition
Answer Question 58
A- True B- True C- False D- True E- True
Conditions associated with premature closure of the fontanelle include many skeletal disorders, such as Achondroplasia, Apert syndrome, and Osteogenesis imperfecta. Progeria is also associated with delayed closure of the fontanelle. Malnutrition may result in delayed closure. Other conditions associated with delayed closure include Trisomy 13, 18 and 21.
Hyperthyroidism is associated with premature closure, and hypothyroidism with delayed closure of the fontanelle.

Question 59
The following may result in neonatal hypocalcaemia
A- Infant of a diabetic mother
B- Birth asphyxia
C- Infant fed on high-phosphate cow’s formula
D- Hypermagnesaemia
E- Neonatal hyperparathyroidism
Answer Question 59
A- True B- True C- True D- False E- False
Neonatal hypocalcaemia is seen in infants of diabetic mothers, and in infants with birth asphyxia. Infants fed on cow’s milk formula can develop hypocalcaemia because this milk is very high in phosphate which the neonatal kidney can not manage to excrete. This results in increased bone deposition of calcium, decreased 1,25-dihydroxy vitamin D levels and hypocalcaemia.
Hypomagnesaemia and Neonatal hypoparathyroidism will result in hypocalcaemia.

Question 60
In twin pregnancy
A- In twin-twin transfusion the plethoric twin is at greater risk
B- There is an increased risk of pre-eclampsia
C- There is an increased risk of placenta praevia
D- Dizygotic twins are at great risk of complications than monozygotic twins
E- Monozygotic twins are always monochorionic
Answer Question 60
A- True B- True C- True D- False E- False
In twin-twin transfusion the larger plethoric twin is the one at greater risk of a number of complications. There is an increased risk of almost everything in twin pregnancy, including pre-eclampsia and placenta praevia.
Monozygotic twins are at greater risk than Dizygotic because if the chorion is shared there are risks of vascular anastomosis with twin-twin transfusion and cord entangling. Monozygotic twins, may however, be dichorionic.