Cerebral lipidoses in patients with progressive neurodegeneration: a study from south India.

OBJECTIVE

To study the prevalence and clinical profile of cerebral lipidoses in patients with progressive neurodegeneration.

SUBJECTS AND

METHODS

A total of 771 patients clinically diagnosed with a progressive neurodegenerative disease were investigated for lipidoses. Specific enzyme assays in serum and leucocytes and other relevant investigations, including histopathology, neuroimaging and neurophysiological studies were conducted when indicated.

RESULTS

Fifty-four cases of sphingolipidoses and 1 case of sialidosis type 1 were diagnosed. The sphingolipidoses consisted of 30 cases of metachromatic leukodystrophy, 13 cases of Tay-Sachs disease and its variants, 11 cases of Sandhoff disease, and 1 case each of Niemann-Pick disease and multiple sulphatase deficiency. The clinical features were similar to earlier reports. Parental consanguinity was present in 63.6% of patients.

CONCLUSIONS

In south India, where consanguineous marriages are strongly favoured, inherited diseases such as the cerebral lipidoses should be considered when evaluating a patient with progressive neurodegeneration. The establishment of specialised referral centres would provide a helpful approach to the prevention and management of these fatal disorders.