Castro, Ruben García
(Department of Dermatology, Hospital Clí)
,
Pérez, Ana María González
(nico Universitario de Salamanca, Salamanca, Spain)
,
Curto, María Concepción Román
(Department of Dermatology, Hospital Clí)
,
Álvarez, Javier Cañueto
(nico Universitario de Salamanca, Salamanca, Spain)
,
Ferreirós, Alberto Conde
(Department of Dermatology, Hospital Clí)
,
Cuadros, Alex Viñolas
(nico Universitario de Salamanca, Salamanca, Spain)
,
Bueno, David Moyano
(Department of Dermatology, Hospital Clí)
,
Fernández, Antonio Javier Chamorro
(nico Universitario de Salamanca, Salamanca, Spain)
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 (&...
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.LEARNING POINTSSchindler 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.
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.LEARNING POINTSSchindler 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.
2 Kodama K Kanzaki T Abe R Ohkawara A Yoshii N Yotsumoto S A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere’s syndrome and without mental retardation Br J Dermatol 2001 144 363 368 11251574
3 Chabas A Coll MJ Aparicio M Rodriguez Diaz E Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings J Inherit Metab Dis 1994 17 724 731 7707696
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