paeds

Question 1

roseola infantum presentation and causative organism

Answer 1

HHV 6

3-4 days very high fever (up to 40’c)

erythematous rash spreading from trunk to extremities but sparing the face

managed supportively

Question 2

common complication of roseola infantum

Answer 2

febrile convulsions

Question 3

presentation of meckels diverticulum

Answer 3

right iliac fossa pain accompanied by rectal bleeding

Question 4

gold standard investigation for meckels diverticulum

Answer 4

technecium scan

Question 5

inhertiance of haemophilia A

Answer 5

X-linked recessive

so there is no male-male transmission

Question 6

murmur associated with turners syndrome

Answer 6

ejection systolic murmur due to bicuspid aortic valve

Question 7

most common cause of ambiguous genitalia

Answer 7

congenital adrenal hyperplasia

Question 8

presentation of cephalohaematoma

Answer 8

sually develop after birth and do not cross the suture lines of the skull as the blood is confined between the skull and periosteum

Question 9

presentation of caput succedaneum

Answer 9

extraperiosteal collection of blood therefore can cross over the suture lines and can be present at birth

Question 10

how does transient tachypnoea of the newborn present?

Answer 10

This can occur following a caesarean section due to a delay in the clearance of lung fluid leading to reduced oxygenation of the blood causing tachypnoea. It usually settles on its own with conservative management

Question 11

presentation of respiratory distress syndrome

Answer 11

cause signs of respiratory distress, such as tachypnoea and nasal flaring

diagnosis is strongly associated with pre-term births, due to surfactant insufficiency

Question 12

presentation of Osteochondritis dissecans

Answer 12

Pain after exercise
Intermittent swelling and locking

Question 13

what can hand preference before 12 months indicate?

Answer 13

Cerebral palsy

Question 14

key features of androgen insensitivity syndrome

Answer 14

inguinal hernias containing testes

primary amenorrhoea

Question 15

androgen insensitivity syndrome- genetics and general presentation

Answer 15

X-linked recessive

genetically male, with XY sex chromosome. However, the absent response to testosterone and the conversion of additional androgens to oestrogen result in a female phenotype externally

Question 16

androgen insensitivity syndrome- why do patients have external female genitalia but no internal female sexual organs?

Answer 16

The female internal organs do not develop because the testes produce anti-Müllerian hormone, which prevents males from developing an upper vagina, uterus, cervix and fallopian tubes

Question 17

presentation of partial androgen insensitivity syndrome

Answer 17

micropenis or clitoromegaly, bifid scrotum, hypospadias and diminished male characteristics

Question 18

1- enzyme deficiency in congenital adrenal hyperplasia

2- why does this cause the blood results seen (low aldosterone, low cortisol, high testosterone)

Answer 18

21-hydroxylase

21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol. Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme. In CAH, there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead. The result is a patient with low aldosterone, low cortisol and abnormally high testosterone.

Question 19

what is the bone marrow failure triad seen in ALL?

Answer 19

anaemia (fatigue/ pallor)

thrombocytopenia (spontaneous bruising/ purpura/ mucosal bleeding)

neutropenia (recurrent infections)

Question 20

PDA- pulse

Answer 20

large bounding, collapsing pulse

Question 21

presentation of roseola infantum and causative organism

Answer 21

HHV6

high fever for a few days followed by a maculopapular rash, diarrhoea and cough

Question 22

4 components of NIPE

Answer 22

heart, hips, eyes, testes

Question 23

causes of neonatal hypotonia

Answer 23

neonatal sepsis
Werdnig-Hoffman disease (spinal muscular atrophy type 1)
hypothyroidism
Prader-Willi

Maternal causes
maternal drugs e.g. benzodiazepines
maternal myasthenia gravis

Question 24

inheritance of haemochromatosis

Answer 24

autosomal recessive

Question 25

methylphenidate (ritalin) monitoring

Answer 25

weight and height every 6 months

Question 26

features of Edwards syndrome

Answer 26

micrognathia, low-set ears, rocker bottom feet and overlapping of fingers

Question 27

shaken baby syndrome triad

Answer 27

retinal haemorrhages, subdural haematoma, and encephalopathy

Question 28

investigation of choice in vesicoureteric reflux

Answer 28

micrturating cystourethrogram

Question 29

turners- murmur

Answer 29

ejection systolic due to bicuspid aortic valve

Question 30

management of testicular torsion

Answer 30

surgical fixation of BOTH testes