December 9 2010 (Thursday) - Chediak-Higashi Syndrome (?)



An interesting case. An eleven year old child, septic, with marked pancytopenia. And the few neutrophils she does have all show these odd granules. I have no idea what they are, and we are waiting for the expert opinion from the referral centre.

I’ve a vague idea it might possibly be a case of Chediak-Higashi syndrome, a rare autosomal recessive disorder in which there is a microtubule polymerization defect. This compromises the phagocytic ability of the neutrophil, resulting in recurrent infections, partial albinism and peripheral neuropathy.
It has been reported in humans, cattle, white tigers, blue Persian cats and albino orcas.

I wonder if today I might use my blog to ask if any of my readers might have any idea what this might be.

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