A New Case of Schindler Disease

  • 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 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.

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References

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  • Kodama K, Kanzaki T, Abe R, Ohkawara A, Yoshii N, Yotsumoto S, et al. A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. Br J Dermatol 2001;144:363–368.

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  • Published: 2019-10-25

    Issue: LATEST ONLINE (view)

    Section: Articles

    How to cite:
    García Castro, R., González Pérez, A. M., Román Curto, M. C., Cañueto Álvarez, J., Conde Ferreirós, A., Viñolas Cuadros, A., Moyano Bueno, D., & Chamorro Fernández, A. J. (2019). A New Case of Schindler Disease. European Journal of Case Reports in Internal Medicine, 2. https://doi.org/https://doi.org/10.12890/2019_001269