Tay-Sachs disease is a rare
metabolic disease caused by a deficiency of
hexosaminidase A that leads to accumulation of GM2
gangliosides predominantly in neural tissue. Late-onset
Tay-Sachs disease variant is associated with a higher level of residual HexA activity. Treatment options are limited, and there are a few described cases who have undergone haematopoietic
stem cell transplantation (HSCT) with variable outcome.We describe a case of a 23-year-old male patient who presented with a long-standing
tremor since 7 years of age. He had
gait ataxia, a speech stammer and swallowing problems. His condition had had a static course apart from his
tremor that had been gradually deteriorating. Because of the deterioration in his neurological function, the patient had an uneventful, matched-sibling donor bone marrow transplant at the age of 15 years. Eight years post-HSCT, at the age of 23, he retains full donor engraftment, and his white cell beta-HexA of 191 nmol/mg/h is comparable to normal controls (in-assay control = 187). He continues to experience some intentional
tremor that is tolerable for daily life and nonprogressive since HSCT.
CONCLUSION: HSCT is a potential treatment option which might arrest neurodegeneration in patients with LOTS.