Neuro - Congenital and Other Abnormalities

Question 1

A baby of 2 months is referred to the general practice by the Plunket Nurse because their head circumference has increased in percentiles from the 50th to the 90th percentile. The baby has downturned eyes, so that the whites of the eyes can be easily seen above the iris, and a large full fontanel, but is otherwise developing and behaving normally.

Both parents have head circumferences in the normal range for adults.

What is the likely problem?

Question 1Select one:

a.
Congenital hydrocephalus

b.
Holoprosencephaly

c.
Bilateral subdural haematomas

d.
Benign familial megalencephaly

Answer 1

Congenital hydrocephalus

Question 2

A baby girl is born with a thoracolumbar meningomyelocoele. She undergoes appropriate surgery to correct hydrocephalus and to close off the back lesion. In regards to her long-term function WHICH ONE of the following is NOT EXPECTED as a result of her condition?

Question 2Select one:

a.
Inability to walk independently

b.
Significant mental retardation

c.
Proneness to urinary infection

d.
Incontinence of urine and faeces

Answer 2

Significant mental retardation

Question 3

Hydrocephalus in the infant (<1 yr old) is consistently associated with WHICH ONE of the following?

Question 3Select one:

a.
Seizures 

b.
Balance problems

c.
Enlarging head

d.
Irritability & fretting

Answer 3

Enlarging head

Question 4

A full-term newborn boy has very low muscular tone, and requires nasogastric feeding, because the hypotonia causes difficulty with sucking and oral feeding, and the infant seems disinterested in feeding. In addition these features are noted:

The infant has a very weak cry.
The testes are undescended
During pregnancy there were reduced fetal movements
There are no marked facial dysmorphic features
What is the likely diagnosis?

Answer 4

Prader-Willi

Question 5

Which ONE of the following is TRUE of the time of onset of Duchenne muscular dystrophy?

Question 5Select one:

a.
Abnormalities are detectable on antenatal ultrasound

b.
Motor weakness becomes apparent around 2-3 years

c.
The neonate shows low muscular tone and is floppy

d.
Delayed motor development is evident by 1 year old

Answer 5

Motor weakness becomes apparent around 2-3 years

Usually after walking is established