General Paediatrics Flashcards

1
Q

A six-year-old girl presents with enuresis. She has never been reliably dry at night. She also has problems with daytime wetting. Her underpants are often damp, and she has urgency and frequency. Examination and urinalysis are normal. Which treatment is most likely to be effective?

A

The symptoms are suggestive of bladder spasm (i.e. requiring oxybutynin).

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2
Q

A child is referred to clinic with speech delay. They have a history of cleft palate repair and agenesis of the right thumb. On examination, you note that they are short for their age.

A

Children with Nager syndrome have normal intelligence but may have speech delay secondary to hearing impairment. Respiratory and feeding problems are common in the neonatal period. Preaxial limb deformities are common.

Unlike Treacher Collins syndrome, children with Nager syndrome do not have eyelid colobomas (part of the tissue that makes up the eye is missing. It can affect 1 or both eyes)

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3
Q

A child with a history of cleft palate repair is found to be myopic.

A

Stickler syndrome is a connective tissue disorder that is usually associated with high myopia. Abnormal architecture of the vitreous is pathognomic. Infants have joint laxity but this improves with age.

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4
Q

A child with a cleft palate is also noted to have a pit in their lower lip.

A

autosomal dominant condition where children may have pits or sinuses in their lips or palate. Most cases are caused by a mutation the IRF6 (interferon regulatory factor 6) gene

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5
Q

Attention Deficit Hyperactivity Disorder (ADHD) is associated with a number of co-morbid conditions. The most frequently associated condition is:

A

ODD
Comorbidity of ODD with ADHD has been reported to occur in 50-65% of affected children.

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6
Q

A 21-month-old boy is brought to the Emergency Department with a history of several days of rectal bleeding. His mother first noticed reddish-coloured stools four days earlier and since then has changed a few nappies containing only blood. On examination the child is afebrile, alert and playful and is eating well. He is tachycardic and abdominal examination is normal.

Which of the following investigations will most likely reveal the diagnosis?

A

Meckel’s diverticulum (a slight bulge in the small intestine present at birth, a remnant of the omphalomesenteric duct).

Remember the rule of 2’s:

Found in 2% of the population
Most common at 2 years of age
2:1 M:F ratio
2 feet proximal to the ileocaecal valve
2 inches in length
Diagnosis is via technetium-99m radioisotope scanning, administered IV, which is rapidly taken up by the diverticula. Note, however, there is a high incidence of false negatives.

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7
Q

At what age would you expect strangers to understand most of what a child says?

A

4 years

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8
Q

Which one of the following is most indicative of child sexual abuse?

A

A ‘v’ shaped indentation of the hymenal margin at five o’clock to the vaginal wall.

Signs suggestive of forced sexual penetrations:

Extensive bruising on the hymen
Laceration (tear, partial or complete) of the hymen (acute)
Perianal lacerations extending deep to the external anal sphincter (Not to be confused with partial failure of midline fusion.)
Hymenal transection (healed): An area between 4 o’clock and 8 o’clock on the rim of the hymen, where it appears to have been torn through, to or nearly to the base, so there appears to be virtually no hymenal tissue remaining at that location.
Missing segment of hymenal tissue. Area in the posterior (inferior) half of the hymen, wider than a transection, with an absence of hymenal tissue extending to the base of the hymen, which is confirmed using additional positions or methods.

A blue-black colouration of the skin surrounding the anus – may be caused by venous congestion or venous pooling in the perianal area (Usually due to positioning of child. Also seen with constipation.)

A 2 mm prominence of the hymenal margin at two o’clock (hymenal ‘bump’) – hymenal bumps or mounds may be a normal variant.

An absence of anal rugae at six and 12 o’clock – otherwise known as diastasis ani, it means the visible portion of the anal opening appears slightly open when the buttocks are spread. The mucosal folds (i.e., the little stretchable wrinkles that are present when the anus is not distended by stool) in front and back – i.e. at 6 and 12 o’clock – are often much more shallow than elsewhere, and this is a normal variation.

Lateral synechiae at the level of the urethra – synechiae means adhesions. Peri-urethral or vestibular bands can be a normal variant.

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