A new variant neuropathic type of Gaucher’s disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules

Inui, Koji; Yanagihara, Keiko; Otani, Kazumasa; Suzuki, Yasuhiro; Akagi, Motohiro; Nakayama, Masahiro; Ida, Hiroyuki; Okada, Shintaro

doi:10.1067/mpd.2001.109789

« Previous Next »The Journal of Pediatrics
Volume 138, Issue 1 , Pages 137-139, January 2001

A new variant neuropathic type of Gaucher’s disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules☆

Department of Pediatrics, Faculty of Medicine, Osaka University, Osaka, Japan; the Department of Pediatric Neurology, Osaka Medical Center for Maternal and Child Health, Osaka, Japan; the Department of Pathology, Osaka Medical Center for Maternal and Child Health, Osaka, Japan; and the Department of Pediatrics, Jikei University School of Medicine, Osaka, Japan

Received 2 July 1999; received in revised form 14 March 2000 and 20 June 2000; accepted 27 June 2000.

Abstract

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. (J Pediatr 2001;138:137-9)