Gaucher's disease in the black population of South Africa. A case report.
The diagnosis of the non-neuropathic form of Gaucher's disease was confirmed by haematological and enzymatic investigations in a Black girl. The aetiological relationship of this condition with Gaucher's disease in other populations is uncertain, but lack of expression of the enzyme defect in the white blood cells in our patient might be significant in this context. This case serves to emphasize that Gaucher's disease enters into the differential diagnosis of unexplained splenomegaly, irrespective of the ethnic background of the affected person.
D000293:Adolescent; D044383:Black People; D003937:Diagnosis, Differential; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D013163:Splenomegaly / Q000150:complications