Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene

被引：0

作者：

Vykuntaraju K. Gowda

Varun M. Srinivasan

Naveen Benakappa

Asha Benakappa

机构：

[1] Indira Gandhi Institute of Child Health,Department of Pediatrics

[2] Bangalore Child Neurology and Rehabilitation Center,undefined

来源：

The Indian Journal of Pediatrics | 2017年 / 84卷

关键词：

Ataxia; Cherry-red spot; Myoclonus; Neuraminidase; Sialidosis;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots. MRI of the brain and electroencephalogram were normal. The enzyme analysis revealed deficiency of neuraminidase. Genetic analysis identified novel homozygous missense mutation c.742G > T (p.G248C) in exon 4 of NEU1 gene. At 13 y of age, the ataxia and had myoclonus progressed.

引用

页码：403 / 404

页数：1

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