García Castro, Rubén and González Pérez, Ana María and Román Curto, María Concepción and Cañueto Álvarez, Javier and Conde Ferreirós, Alberto and Viñolas Cuadros, Alex and Moyano Bueno, David and Chamorro Fernández, Antonio Javier (2019) A New Case of Schindler Disease. European Journal of Case Reports in Internal Medicine, 6 (11). ISSN 2284-2594
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Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Angiokeratoma corporis diffusum, Kanzaki disease, peripheral neuropathy, alpha-N-acetylgalactosaminidase |
| Subjects: | 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Chiara D'Arpa |
| Date Deposited: | 19 Nov 2020 09:16 |
| Last Modified: | 19 Nov 2020 09:16 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/19567 |
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