Communicating hydrocephalus in a patient with Gaucher's disease type 3.
The case of a 3-year-old male with type 3 Gaucher's disease, whose genotype for the beta-glucosidase gene was D409H/unknown mutation, is presented. After the onset of visceral and neurologic signs during infancy, a radiologic investigation at 3 years of age revealed communicating hydrocephalus, an unusual complication of Gaucher's disease. A ventriculoperitoneal shunt operation led to clinical and radiologic improvement. The possibility of this complication should be considered in the treatment of patients with Gaucher's disease.
Shiihara
T
T
Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Tottori, Japan.
Oka
A
A
Suzaki
I
I
Ida
H
H
Takeshita
K
K
D002675:Child, Preschool; D005776:Gaucher Disease / Q000150:complications* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D017287:Ventriculoperitoneal Shunt; D001617:beta-Glucosidase / Q000235:genetics*
D001617:beta-Glucosidase