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Editor—We have recently performed the molecular characterisation of the glucocerebrosidase alleles of a child with an unusual presentation of type 3 Gaucher disease. This patient was among the first described cases of Gaucher disease with cardiac involvement, oculomotor abnormalities, and hydrocephalus,1 features that were subsequently described in patients from Japan,2 3 Israel,4 Spain,5 6Turkey,7 8 Canada,9 and the USA10 11 (table 1). Interestingly, many of these patients were reported to be homozygous for the mutation D409H in the human glucocerebrosidase gene. Similar to the latest case with genotype D409H/D409H described in this journal by Chabáset al,5 our patient had early and aggressive visceral disease. However, unlike many of the other cases reported, pathological evaluation showed cardiovascular …
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