• Rubén García Castro
  Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• Ana María González Pérez
  Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• María Concepción Román Curto
  Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• Javier Cañueto Álvarez
  Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• Alberto Conde Ferreirós
  Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• Alex Viñolas Cuadros
  Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• David Moyano Bueno
  Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• Antonio Javier Chamorro Fernández
  Department of Medicine, Hospital Clínico Universitario de Salamanca, Salamanca, Spain

Keywords

Angiokeratoma corporis diffusum, Kanzaki disease, peripheral neuropathy, alpha-N-acetylgalactosaminidase

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 ?-N-acetylgalactosaminidase (?-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 ?-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.

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Published: 2019-10-25
Issue: Vol 6 No 11 (view)