title: [A 32-year old male patient with pathological humeral fracture, splenomegaly and thrombocytopenia].
abstract: We describe the case of a 32-year old male patient who presented with a pathological fracture of his right humerus, splenomegaly and thrombocytopenia, the typical symptoms of Gaucher's disease, a lysosomal storage disease. Diagnosis was confirmed by bone marrow biopsy (detection of lipid engorged macrophages - Gaucher cells), by a markedly diminished activity of acid, beta-Glucosidase and by showing two different mutations (764T/A, 1187G/A) in the gene encoding acid beta-Glucosidase. The first mutation causes an amino-acid substitution (phenylalanine to tyrosine). The second mutation causes a premature termination at amino-acid position 396. Enzyme replacement therapy was started with 60 Units/kg body weight, because of severe bone symptoms. Following the decrease in spleen size and increase in platelet count the dose was gradually tapered to 20 U/kg. After two years of enzyme replacement therapy platelet count and spleen volume have normalized and the bone lesions have almost disappeared.
authors.affiliation: Medizinische Klinik II - Grosshadern, Klinikum der Universität München, Germany.
authors.forename: E M
authors.initials: EM
authors.lastname: Dürr
authors.forename: H C
authors.initials: HC
authors.lastname: Geiss
authors.forename: B F
authors.initials: BF
authors.lastname: Pontz
authors.forename: K G
authors.initials: KG
authors.lastname: Parhofer
mesh_terms: D000328:Adult; D005598:Fractures, Spontaneous / Q000175:diagnosis* / Q000188:drug therapy; D005776:Gaucher Disease / Q000175:diagnosis* / Q000188:drug therapy; D005962:Glucosylceramidase / Q000627:therapeutic use; D006801:Humans; D006810:Humeral Fractures / Q000175:diagnosis* / Q000188:drug therapy; D008297:Male; D013163:Splenomegaly / Q000175:diagnosis* / Q000188:drug therapy; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000188:drug therapy; D016896:Treatment Outcome
chemical_list: D005962:Glucosylceramidase