It is said to be the most common cause of heritable mental retardation second only to Downs.
It is caused by a distruption in the expression by either an nucleotide expansion or deletions of FMR1. A dominant X-Linked gene (FMR-1; familial mentral retardation 1) *trying to type the longest sentence ever expressed in a single breath*
Loss of the FMR1 expression results in Fragile X.
Clinically they will present with;
Pre-pubertal; Normal growth but a large head, Delayed developmental milestones, an association with autism, ADHD, tantrums.
Post-puberty; Long face, low IQ, Macroorchidism
other opthalmo, orthopaedic, dermato and cardiac anomalies.
Reason for nerding today?
I saw a 5 year old boy suspected for Fragile X in the clinic today. He came in due to a refusal to eat food other than kwey teow soup and drinks milk every 2 hourly. Outward appearance appeared normal, none of what has been described above; plus his mother mentioned that she was also slow to walk when she was younger. Eye contact was surprisingly- still held, but otherwise he would definitely have struck me as an autistic child.
I also met a child who was then diagnosed with spastic hemiplegia CP. Such an adorable 16 month old, who smiles incessantly and active as ever. Yet his mother cried when the doctor confirmed her worst fears -- that her baby wasn't normal. Cried even more when he advised her to apply for the OKU card actually.
Hmm. makes me wonder if there could be something between me and paeds. as much as its painful to go through the milestone examinations I'm starting to feel how Bern could be so attached to the little darlings. CP's are generally quite common but I think that encountering a Fragile X for the first time was quite.... mentionable. (there is no such english word)
Guess they aren't only found in textbooks under 'rare'.
Oh yeah talking about rare; there was a Henoch schonlein purpura case in the wards today.
YUP. you could see the 'WHAT?!' s on top of all our heads when the specialist came up with the diagnosis. Upon inspection I thought it was a freaking healing chicken pox (but i did reason out that if it was he would have probably been isolated) !!
Anyways paeds has been quite eventful thus far.
No quote today but I'll show u a picca
:)
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