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J Korean Neurol Assoc. 1999;17(5):730-734.
- A Novel Mutation in Exon 6 in a Patient with Fabry’s Disease
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Ji-Hyun Kim, Jun-Kyun Lee, Soo-Bin Yim, Shin-Kwang Khang*, Kwang-Kuk Kim
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Department of Neurology, Diagnostic Pathology* Ulsan Medical College, Asan Medical Center
- Exon 6에 이상소견을 보인 파브리 병 1예
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김지현, 이준균 임수빈 강신광*김광국
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울산대학교 의과대학 서울중앙병원 신경과,진단병리과*
- 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
Keywords :
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