[Gaucher's disease of the 3d type (juvenile form)].
A case of Gaucher's disease, juvenile type is presented. Disease manifested with signs of hepatosplenomegaly, and thrombocytopenia. The typical Gaucher's cells were found in bone marrow aspiration. Acid phosphatase levels were 1.74 U. Bessey-Lowry/ml, 80.45% corresponding to the non-prostatic fraction. The enzymatic activity of glucosyl ceramide-beta-glucosidase was determined in a fibroblast culture, being its value of 0.42 mU/mg of protein (control: 3.2 mU/mg of protein). We comment on the existing relationship between the clinical types, as well as the therapeutic possibilities.
Valverde Moreno
F
F
Departamento de Pediatría, Hospital Clínico, Universidad Complutense, Madrid.
Itziar Miranda
M
M
Vega Fernández
R
R
López-Ibor Aliño
B
B
Sánchez Díaz
J I
JI
Gil López
C
C
Luque Muñoz
R
R
Villegas Martínez
A
A
D001842:Bone and Bones / Q000473:pathology; D002648:Child; D005776:Gaucher Disease / Q000145:classification / Q000201:enzymology / Q000473:pathology*; D006801:Humans; D008297:Male
Enfermedad de Gaucher tipo III (forma juvenil).