A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules.
We report a new variant type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, gastroesophageal reflux, and fibrous thickening of splenic and hepatic capsules. This patient had 1 D409H allele. He differed from other reported cases with a 1342G to C (D409H) homozygous mutation (onset at 4 months, no cardiac involvement until the age of 12 years, and massive hepatosplenomegaly with fibrous thickening of spleen and liver capsules). Enzyme replacement therapy was given for 4 years, resulting in an improvement of visceral and hematologic abnormalities but no neurologic improvement.
Inui
K
K
Department of Pediatrics, Faculty of Medicine, Osaka University, Osaka, Japan.
Yanagihara
K
K
Otani
K
K
Suzuki
Y
Y
Akagi
M
M
Nakayama
M
M
Ida
H
H
Okada
S
S
D001706:Biopsy; D003318:Corneal Opacity / Q000235:genetics*; D005764:Gastroesophageal Reflux / Q000235:genetics*; D005776:Gaucher Disease / Q000145:classification* / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005962:Glucosylceramidase / Q000627:therapeutic use; D006529:Hepatomegaly / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007223:Infant; D007564:Japan; D008297:Male; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D013163:Splenomegaly / Q000235:genetics*; D014034:Toes / Q000002:abnormalities*
C070292:alglucerase; D005962:Glucosylceramidase