Peds As.Exam 39. -20month old girl.

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Peds As.Exam 39. -20month old girl.

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DrVirgo
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07/01/08 - 12:14 PM

A 20-month-old girl is brought for evaluation. The parents
complain that she has been behaving in a peculiar
way over the past couple months, as though she was forgetting
the skills she had already mastered earlier. Her
vocabulary seems to have shrunk, and she has become
very placid compared to other children she spends time
with. The child has lost interest in playing with her friends
and is often found sitting alone, wringing or clapping her
hands repeatedly. She no longer makes eye contact with
her parents. The most recent development is the occurrence
of breath-holding or rapid breathing while she is
awake. She sleeps peacefully, though. Her prior medical
history, as well as the family history, is unremarkable. On
physical examination, the patient is in no acute distress
and her vital signs are within normal limits. Her height,
weight, and head circumference are in the 20th, 30th, and
5th percentiles, respectively. During the examination, she
sits quietly on the examining table and does not make eye
contact. Repeated hand wringing and general hypotonia
are noted. A Wood lamp examination of the skin is negative.
Basic laboratory studies and neuroimaging studies
reveal no abnormality. Genetic testing is offered to the
family.Which of the following genes is most likely to be
sequenced in this patient?
(A) MECP2
(B) NF1
(C) PTEN
(D) SPINK5
(E) TSC1

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DrVirgo
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07/01/08 - 12:15 PM

Also.....Whats the diagnosis?

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liliaeliz
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07/01/08 - 02:07 PM

RETT SYNDROME

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DrVirgo
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07/02/08 - 07:36 AM

liliaeliz wrote:
RETT SYNDROME

Thats right... Now whats the answer to the question?

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liliaeliz
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07/02/08 - 09:52 AM

A

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liliaeliz
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07/02/08 - 10:38 AM

I did not know which gen
MECP2 rett synd.
NF1 neurophibromatosis
PTEN tomor and cowden synd.
SPINK5 atopy
TSC1 tuberous sclerosis

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