Friday, July 24, 2015

Internship diaries: Metachromatic leukodystrophy

Hey everyone! I'm posting the study group discussion we had because it's so much less to type :D

I saw a case of metachromatic leukodystrophy in the OPD yesterday.

Can anyone tell me what is metachromatic dystrophy?

For those who don't know, it's a lysosomal storage disease. Deficiency of the enzyme aryl sulfatase A causes accumulation of cerbroside sulfate.

What were the symptoms?

She had ophthalmic symptoms, for which they got an MRI done which diagnosed the disease. It showed diffuse white matter T2 hyperintensity. The MRI pics are not very clear so I'm not posting them here.

I took permission from the mother to share the picture of the kid, here it is.

Metachromatic leukodystrophy
She has protruding eyes and the obvious, megalocornea!

They look like real life anime eyes. Did her eyes really have that blue tinge? Or it's just the pic?

Her sclera did look blue but I don't know why. 

So cute! What's the management?

Unfortunately, there is no treatment or cure. Just symptomatic management.


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