Castro Ruben García, Pérez Ana María González, Curto María Concepción Román, Álvarez Javier Cañueto, Ferreirós Alberto Conde, Cuadros Alex Viñolas, Bueno David Moyano, Fernández Antonio Javier Chamorro
Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain.
Department of Medicine, Hospital Clínico Universitario de Salamanca, Salamanca, Spain.
Eur J Case Rep Intern Med. 2019 Oct 25;6(11):001269. doi: 10.12890/2019_001269. eCollection 2019.
Lysosomal storage disorders (LSDs) are a group of genetic disorders caused by mutations in genes encoding enzymes involved in lysosomal function. Schindler disease is an autosomal recessive, inherited LSD caused by defective or non-existent activity of the enzyme α-N-acetylgalactosaminidase (α-NAGA). To date, three main phenotypes of Schindler disease have been described. We report the case of a 68-year-old man presenting with axonal and demyelinating polyneuropathy, sensorineural hearing loss, chronic lymphoedema, angiokeratoma corporis diffusum and bilateral carpal tunnel syndrome. Genetic testing (PCR) for α-galactosidase revealed the c.577G>T (p.Glu193*) mutation in the NAGA gene, confirming Schindler disease, which is clinically compatible with Kanzaki disease and Schindler disease type II.
Schindler disease is a very rare lysosomal storage disorder.To our knowledge, fewer than 20 cases have been described to date.Consequently, each new case should be reported to enhance understanding of the wide range of presentations.
溶酶体贮积症（LSDs）是一组由参与溶酶体功能的酶编码基因突变引起的遗传性疾病。辛德勒病是一种常染色体隐性遗传性溶酶体贮积症，由α-N-乙酰半乳糖胺酶（α-NAGA）活性缺陷或缺乏所致。迄今为止，已描述了辛德勒病的三种主要表型。我们报告了一例68岁男性病例，其表现为轴索性和脱髓鞘性多发性神经病、感音神经性听力损失、慢性淋巴水肿、弥漫性躯体血管角质瘤和双侧腕管综合征。α-半乳糖苷酶的基因检测（PCR）显示NAGA基因存在c.577G>T（p.Glu193*）突变，确诊为辛德勒病，其临床表现与神崎病和II型辛德勒病相符。
辛德勒病是一种非常罕见的溶酶体贮积症。据我们所知，迄今为止报道的病例少于20例。因此，每例新病例均应报告，以增进对其广泛临床表现的了解。
