<abstract xmlns="http://www.w3.org/1999/xhtml">Tay-Sachs disease (TSD) is a rare, inherited, autosomal rececessive lysosomal storage disease. The late-onset form is an uncommon condition among non-Jewish population.We present the case of a 32 years old male patient without Jewish origins, in whom the disease began in adolescence and was initially diagnosed with spinal muscular atrophy. He developed progressively protean neurological symptomatology, including tetraparesis, cerebellar and extrapyramidal syndromes. The diagnosis was based on the cerebral MRI, showing severe cerebellar atrophy and the determination of the Hexosaminidase A activity, revealing low level.In patients showing signs of lower motor neuron involvement, cerebellar and pyramidal signs and marked cerebellar atrophy the late-onset TSD should be suspected, and the first step in establishing the diagnosis should be to determine the serum activity of Hexosaminidase A.</abstract>

Tay-Sachs disease (TSD) is a rare, inherited, autosomal rececessive lysosomal storage disease. The late-onset form is an uncommon condition among non-Jewish population.We present the case of a 32 years old male patient without Jewish origins, in whom the disease began in adolescence and was initially diagnosed with spinal muscular atrophy. He developed progressively protean neurological symptomatology, including tetraparesis, cerebellar and extrapyramidal syndromes. The diagnosis was based on the cerebral MRI, showing severe cerebellar atrophy and the determination of the Hexosaminidase A activity, revealing low level.In patients showing signs of lower motor neuron involvement, cerebellar and pyramidal signs and marked cerebellar atrophy the late-onset TSD should be suspected, and the first step in establishing the diagnosis should be to determine the serum activity of Hexosaminidase A.

Late Onset Tay-Sachs Disease in a Non-Jewish Patient: Case Report

University of Medicine and Pharmacy Targu Mures

Acta Marisiensis - Seria Medica

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"Late Onset Tay-Sachs Disease in a Non-Jewish Patient: Case Report"}

Tay-Sachs disease (TSD) is a rare, inherited, autosomal rececessive lysosomal storage disease. The late-onset form is an uncommon condition among non-Jewish...

Late Onset Tay-Sachs Disease in a Non-Jewish Patient: Case Report

Publié en ligne: 30 déc. 2017

Pages: 199 - 203

Reçu: 14 août 2017

Accepté: 31 oct. 2017

DOI: https://doi.org/10.1515/amma-2017-0034

Mots clés
Tay-Sachs disease, autosomal rececessive, hexosaminidase A

© 2017 Smaranda Maier et al., published by De Gruyter Open

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Late Onset Tay-Sachs Disease in a Non-Jewish Patient: Case Report

Publié en ligne: 30 déc. 2017

Pages: 199 - 203

Reçu: 14 août 2017

Accepté: 31 oct. 2017

DOI: https://doi.org/10.1515/amma-2017-0034

Mots clésTay-Sachs disease, autosomal rececessive, hexosaminidase A

© 2017 Smaranda Maier et al., published by De Gruyter Open

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Mots clés
Tay-Sachs disease, autosomal rececessive, hexosaminidase A