Saturday, February 28, 2015

Study group discussion: Pfeiffer disease and Pfeiffer syndrome

What's Pfeiffer disease and Pfeiffer syndrome?

Pfeiffer disease - Glandular fever -Infectious mononucleosis - Kissing disease.

Pfeiffer syndrome is craniosynostosis with hearing loss, a genetic disorder.

Craniosynotosis?
Early fusion of premature bones.

What type of craniosynotosis? There are several types!

Sutures fused and no place for growth of brain. Accordingly you get different shapes of skull - Coronal, cloverleaf shape or a boat shaped skull.

Type 1 is classic, with no neurological impairment.
Type 2 is clover leaf shaped head and retardation of growth with neurological impairment.
There's type 3 too.

Why do you have such an extensive knowledge on this rare syndrome?

Actually, there was an infant girl with craniosynostosis.
Her mother complained that she used to regurgitate the milk after each feed. (This was probably because of the raised ICT.)
The doctor's had to operate - Break the fused bones to provide space for the brain to grow.

Breaking up bones for the brain to grow, now that's something awesome!

Wow.

She's safe now (:

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