To our knowledge, the occurrence of a Marfanoid habitus associated with Juvenile Sandhoff disease is unique to our patient and is hitherto unreported. The course of the disease is that of relentless and ultimately fatal progression of neurologic disease. There is no definitive treatment. A variety of innovative therapies including hexosaminidase infusions and leuko-cyte transfusions have been tried. Bone marrow transplantation has also been attempted.
Gene therapy offers hope for the future.
For the present, preventive genetic counselling and the supportive treat-ment of affected individuls are the only options. It inhibits the synthesis and storage of accumulating lipid and is a potential therapeutic strategy for other lysosomal storage diseases as well. If future trials establish the efficacy of this drug, it could offer hope to patients afflicted with this incurable illness. The authors are grateful to Mrs. Rebecca Cherian, Biochemist, Department of Neuro-chemistry, CMC Hospital, Vellore for her valuable contribution in carrying out the biochemical assays. MS was the consultant in charge of this patient.