African Journal of Health Sciences

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Type 2 Gaucher\'s disease in a Malian family

Moussa Traoré, Mariam Sylla, Jeannette Traoré, Toumani Sidibé, Guinto Cheick Oumar


Gaucher's disease is a recessive autosomal disorder caused by an inherited deficiency of betaglucocerebrosidase. We report here the case of an 8 month old child, fourth in a family of four children, who presents the neuropathic form of the disease. The dosages of betaglucosidase activity using C14 techniques have confirmed the diagnosis, and allowed the detection of the disease in the elder brother. Both parents were considered as responsible for the transmission of this disease to their progeny. The type 2 Gaucher's disease is rare in black population, and may be associated with phenotypes heterogeneity.

African Journal of Health Sciences Vol.11(1&2) 2004: 67-69
AJOL African Journals Online