[Type 1 Gaucher disease in a pediatric patient: 12 year's evolution].
A 14 years old patient, diagnosed in early childhood of type 1 Gaucher's disease is reported to show his unusual genotype and clinical course. The patient is heterozygous for mutation D409H, that in the homozygous patient determines an aggressive disease accompanied by neurological signs, and for a new mutation, which must be considered of mild effects. Early detection of bone involvement is emphasized as a factor to consider when indicating of enzyme replacement therapy.
García
M
M
Servicio de Hematología, Hospital de Sagunto, Valencia.
Casanova
C
C
Chabás
A
A
Viosca
E
E
Martínez
B
B
D000483:Alleles; D000842:Ankle / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000145:classification / Q000235:genetics / Q000473:pathology; D005962:Glucosylceramidase / Q000172:deficiency / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D010146:Pain / Q000209:etiology; D017354:Point Mutation; D013163:Splenomegaly / Q000473:pathology
D005962:Glucosylceramidase