A Novel Mutation in Exon 6 in a Patient with Fabry’s Disease

J Korean Neurol Assoc > Volume 17(5); 1999 > Article

Journal of the Korean Neurological Association 1999;17(5): 730-734.

Exon 6에 이상소견을 보인 파브리 병 1예

김지현, 이준균 임수빈 강신광*김광국

울산대학교 의과대학 서울중앙병원 신경과,진단병리과*

A Novel Mutation in Exon 6 in a Patient with Fabry’s Disease

Ji-Hyun Kim, Jun-Kyun Lee, Soo-Bin Yim, Shin-Kwang Khang*, Kwang-Kuk Kim

Department of Neurology, Diagnostic Pathology* Ulsan Medical College, Asan Medical Center

Abstract

Fabry’s disease, angiokeratoma corporis diffusum, is a rare X-linked inborn error of glycosphingolipid metabolism due to the lack of the lysosomal enzyme, α-galactosidase A, resulting in a progressive intracellular deposition of neu-tral glycosphingolipids in various tissues, including the dorsal root ganglia, autonomic nervous system, vascular endothelial, and smooth muscle cells. Clinical manifestations of Fabry’s disease result predominantly from the progres-sive deposition of globotriaocylceramide in the nervous system or vascular endothelium, and are characterized by acro-paresthesia, angiokeratoma, corneal opacity, TIA or stroke, ischemic heart disease, and renal failure. We report a case of a 19-year-old man presenting with a 12-year history of severe distal pain, acroparesthesia, short stature, and delayed puberty. An enzymatic assay disclosed substantially diminished α-galactosidase A activity and an electron microscopy of the peripheral nerve showed lipid inclusions which were composed of concentrically laminated, ovoid osmiophilic bodies in the perineural fibroblast and endothelial cells. These findings are typical of Fabry’s disease and additional genetic study revealed deletion mutation(TTAG) at the 6th exon of the α-galactosidase A gene, which is a novel muta-tion that had never been reported in literatures. Symptomatic treatment with carbamazepine and clonazepam was tried with a good response. J Kor Neurol Ass 17(5):730~734, 1999 Key Words : Fabry’s disease, α-galactosidase A, Acroparesthesia