Paediatrics

Question 1

An 8 year old child’s ultrasound request states “Pre-splenectomy. Hereditary Spherocytosis” (HS). Which of the following is most correct?

1. Splenectomy is not a treatment for HS. It suggests an additional unrelated condition.
2. HS is associated with an increased incidence of lymphoma: Nodes/ liver and spleen should be screened.
3. HS is associated with splenomegaly and pigmented gall stones
4. HS is associated with hemochromatosis: liver should be screened for cirrhosis/ pancreas assessed
5. HS is associated with associated with splenic infarcts due to acute spherocytic changes.

Answer 1

3. *HS is associated with splenomegaly and pigmented gall stones

Question 2

A 6 month-old female with gastroenteritis has a request stating “? cellulitis left index finger. Brother has sickle cell Disease. No routine screening” Which of the following is LEAST correct?

1. The child is unlikely to have sickle cell disease – as this is manifest at birth/ in utero.
2. The child is at increased risk of septicaemia / osteomyelitis
3. The child is at increased of bone infarct
4. The child is an increased risk of viral osteomyelitis
5. The gastroenteritis/ dehydration may have precipitated a vaso-occlusive crisis

Answer 2

1. *The child is unlikely to have sickle cell disease – as this is manifest at birth/ in utero.

Question 3

A Teenager has an imaging request stating “?severe meningococcal infection” Which of the following statements is LEAST likely/ correct?

1. There may be bilateral large (4- 10 cm) adrenal avascular masses
2. There may be associated skin petechiae
3. There can be associated renal cortical necrosis
4. There can be associated microinfarcts and haemorrhages in the cerebrum
5. There may be associated acute pancreatitis

Answer 3

5. *There may be associated acute pancreatitis

Question 4

A clinical request for a 10 year-old states “Neiman Pick disease. Abdominal Pain.” Which of the following is most correct?

1. The request is in error. Patients with NPD would be expected to have died by this age.
2. It could be Type II NPD and those patients have massive splenomegaly
3. The patient would be expected to have massive hepatomegaly
4. The patient would be expected to have generalised visceromegaly involving liver, kidneys and spleen
5. The patient is at increased risk of associated renal calculi / colic

Answer 4

2. *It could be Type II NPD and those patients have massive splenomegaly

Question 5

An 18 year old pregnant patient has a fetus with features strongly suggestive of Trisomy 21. Which of the following is LEAST correct?

1. Trisomy 21 occurs in ~ 1 in 1550 live births at this age
2. Both parents should be screened for a balanced translocation if the Trisomy is proven
3. There is a 40% of congenital heart abnormality: the heart should be carefully screened
4. Gut dilation would suggest associated colonic atresia
5. Generally Mosaicism with this condition carries the less risk of severe manifestations of Trisomy 21

Answer 5

4. *Gut dilation would suggest associated colonic atresia

Question 6

A Patient with XXY genotype has an increased risk of many conditions. Which of the following is LEAST described?

1. Gynaecomastia
2. Nephrolithiasis
3. Breast Cancer
4. Extragonadal germ cell tumors
5. Autoimmune diseases

Answer 6

2. *Nephrolithiasis

Question 7

A 16 year old patient on oral retinoic acid for severe acne becomes accidentally pregnant, admitting only at 16 weeks. Which of the following is most correct?

1. It is associated with CNS, cardiac and craniofacial abnormalities including facial clefts
2. It is associated with radial, hand and cardiac defects
3. It is associated predominately with thrombocytopenia and cardiac defects
4. It is associated with late growth retardation but the fetus is at no elevated risk at this gestation.
5. There is no elevated risk as retinoic acid does not cross the placenta in significant amounts.

Answer 7

1. *It is associated with CNS, cardiac and craniofacial abnormalities including facial clefts

Question 8

Which of the following is most correct concerning fetal growth restriction?

1. Fetal causes are infrequent, and contribute to less than 1% of marked growth restriction
2. Placental causes / “associations” include single umbilical artery, abnormal cord insertion, abruption and placental praevia amongst others.
3. Maternal factors are the second most common cause of fetal growth restriction
4. Drugs that cause FGR are largely recreational with no “therapeutic” drug ever proven.
5. There is no association with SLE

Answer 8

2. *Placental causes / “associations” include single umbilical artery, abnormal cord insertion, abruption and placental praevia amongst others.

Question 9

A baby’s 1st CXR requests states “33/40, LSCS for Large baby, infant of diabetic mother (IDM). Apgars 9, 10. Increasing tachypnea at 4 hours”. Which of the following is most correct?

1. Infection should be strongly considered given the normal Apgars and new onset tachypnea.
2. The history of LSCS is strongly suggests transient tachypnoea of the Newborn
3. The history of IDM is irrelevant to any cause of neonatal tachypnoea
4. The incidence of HMD is minimal (<2%) at this gestation – management is monitoring/ expectant
5. The clinical features suggest likely tension pneumothorax

Answer 9

2. *The history of LSCS is strongly suggests transient tachypnoea of the Newborn

Question 10

A fetus has features highly suggestive of a severe fetal anaemia at 28 week US, not present at the normal 12 and 20 week morphology scan. This is the mother’s first pregnancy (and uneventful). Which of the following statements is most correct?

1. She should be screened for Paravovirus B19
2. She should be screened for trisomy
3. It suggests vasa previa
4. It suggests a concealed abruption
5. It suggests 1nd trimester rubella

Answer 10

1. *She should be screened for Paravovirus B19

Question 11

A premature baby has an MRI request stating “? Kernicterus”. Which of the following is most correct?

1. This is caused by severe fetal hydrops.
2. The scan is not indicated if the fetal bilirubin was not greater than 15 mg /dl (~255umol/l)
3. While a higher level of bilirubin carries a greater risk, the risk is related many factors including prematurity, age and peak of bilirubin.
4. The areas of greatest likely abnormality is in the lateral geniculate bodies/ occipital/ visual cortex
5. The most likely cause of jaundice causing kernicterus is galactosemia

Answer 11

3. *While a higher level of bilirubin carries a greater risk, the risk is related many factors including prematurity, age and peak of bilirubin.

Question 12

Concerning CF which of the following statements is LEAST correct?

1. Some specific combination alleles of CF are at reduced risk of pancreatic insufficiency compared to others
2. Hepatic features include focal biliary cirrhosis, fatty steatosis and focal bile duct plugging
3. Salivary gland changes include focal duct/ductular obstruction with possible gland atrophy and fibrosis
4. Bilateral absence of the vas deferens is frequent finding in males
5. Meconium ileus affects approximately 1 in 2500 -5000 live births in Caucasian populations.

Answer 12

5. *Meconium ileus affects approximately 1 in 2500 -5000 live births in Caucasian populations

Question 13

Which of the following is LEAST recognised as a clinical manifestation/ association of unrecognized poorly treated Cystic fibrosis?

1. Rectal prolapse
2. Primary Ovarian Failure
3. Childhood intussusception
4. Nasal polyposis
5. Recurrent pancreatitis

Answer 13

2. *Primary Ovarian Failure

Question 14

In Gaucher’s Disease, which of the following would be LEAST expected

1. Living to over 20 years of age
2. Pathological fracture
3. Presence of mild to moderate generalised lymphadenopathy without infection
4. Dominant cardiomyopathy
5. Massive splenomegaly

Answer 14

4. *Dominant cardiomyopathy

Question 15

Concerning Down’s Syndrome which of the following is LEAST correct?

1. There is an increased risk of duodenal, esophageal and small bowel atresias
2. Hypotonia is a clinical feature
3. Mild forms can be seen with Mosaicism and the trisomy not be evident in all cell lines
4. Over 75% of patients show only mild IQ impairment (60 to 80 IQ)
5. Cardiac abnormalities are the cause of most deaths in childhood in patients with Trisomy 21

Answer 15

4. *Over 75% of patients show only mild IQ impairment (60 to 80 IQ)

Question 16

A clinical request states “22q11.2 deletion syndrome”. Which of the following is LEAST correct?

1. Absent or hypoplastic radii would be an expected feature
2. A small or absent thymus would be an expected finding in childhood
3. The patient is an increased risk of fungal infections and TB
4. This is classically associated with congenital cardiac anomalies including
5. The patient has an increased risk of psychiatric illness

Answer 16

1. *Absent or hypoplastic radii would be an expected feature

Question 17

Concerning Klinefelters Syndrome, which of the following is most correct?

1. Gynaecomastia strongly suggests associated gondadoblastoma
2. There are associations with both diabetes, autoimmune disease and mitral valve prolapse
3. Gynaecomastia suggests a Turner-mosaic form of Klinefelters
4. In the majority of patients the testes are abnormally large (>95th percentile volume) due to tubule obstruction
5. Bone density is unaffected

Answer 17

2. *There are associations with both diabetes, autoimmune disease and mitral valve prolapse