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Tay-Sachs disease: a case report

A E Arisoy1, S Ozden, G Ciliv

  • 1Department of Pediatrics, Inönü University Faculty of Medicine, Malatya, Turkey.

The Turkish Journal of Pediatrics
|January 1, 1995
PubMed
Summary

Tay-Sachs disease is a rare genetic disorder affecting the central nervous system due to hexosaminidase A deficiency. Diagnosis in infants involves clinical signs and confirmed by absent serum hexosaminidase A activity.

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Area of Science:

  • Genetics
  • Neurology
  • Biochemistry

Background:

  • Tay-Sachs disease (GM2 gangliosidosis I) is an inherited metabolic disorder.
  • It is characterized by the deficiency of the enzyme hexosaminidase A.
  • This deficiency leads to the accumulation of GM2 gangliosides in the central nervous system.

Observation:

  • A case study of a 12-month-old girl with progressive mental-motor deterioration and seizures.
  • The patient exhibited generalized hypotonia, macrocephaly, hyperacusis, and a characteristic cherry-red spot in the retina.
  • Family history revealed two deceased siblings with similar symptoms, and parents were first cousins, suggesting an autosomal recessive inheritance pattern.

Findings:

  • The diagnostic confirmation of Tay-Sachs disease was achieved through the absence of serum hexosaminidase A activity.
  • Clinical presentation and family history were consistent with the diagnosis.

Implications:

  • Early diagnosis of Tay-Sachs disease is crucial for genetic counseling and management.
  • Understanding the enzyme deficiency aids in research for potential therapeutic strategies.
  • This case highlights the importance of recognizing clinical signs and family history in diagnosing rare genetic disorders.

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