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Old 05-23-2012
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Question A child with neuropsychiatric complaints

The mother of an 8 year old male child brings her son to you. She tells you that he has been coughing, and has a runny nose, she took his temprature today, it was 37.9C. They just immigrated from outside the US. The mother tells that this is not the only reason she brought her son today, she says "my son has always been acting strange, he was one year old when he got a high temprature, then everything started gradually". She reports that after that he started having problems with his developing language, though he was sharp before that. He also used to get really mad when his "normal" brother would listen to loud music and starts flipping his hands in his "usualy wierd way". When he grew older, he started having trouble at school, with short attention span, inability to concentrate, short memory loss and aggression towards other students. She continues "Everytime I go to a new doctor he says something different than the other, some say he is mentally retarded, some say he has ADHD, some say he has Autism, another say that it is heridetary, I don't know what to believe anymore".
You take a general look at the patient. He has large protuberant ears, long face with protuberant jaw and prominent forehead. What is the most accurate statement to tell the mother about the disease?

a- It is an uncommon cause of mental retardation
b- It is a complication after the infection of his brain coverings that he had at one year of age
c- It is an Autosomal Recessive disease
d- Females IQ tend to be less affected than males with the same disease
e- He has a genetic disease in which males cannot be asymptomatic carriers of the disease

Last edited by DrSeddik; 05-23-2012 at 10:14 AM.
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Old 05-24-2012
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Default ans

is the answer D?
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Old 05-25-2012
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Yes! It is..
The patient has Fragile X Syndrome. The most common cause of inherited mental retardation. The Clue is the abnormal facial features, which usually appear in late childhood. It is X-linked dominant, with reduced penetrance. The name comes from a thin segment in the X chromosome due to a trinucleotide repeat (CGG) in that area. Because of incomplete penetrance and anticepation (due to trinucleotide repeats), the disease genotype does not result in a phenotype in all patients; the males can have premutation. Fragile X Syndrome is sometimes associated with Autism and/or ADHD. Affected females with full mutation tend to have less severe disease due to 50% penetrance, as they have another normal X chromosome.
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Old 06-01-2012
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I am confused between D and E both correct , Why not E ??

thank you
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Pediatrics-, Step-3-Questions

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