Journal of Child Neurology

 

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Journal of Child Neurology, Vol. 19, No. 6, 447-452 (2004)
DOI: 10.1177/088307380401900610

Cerebral Glycolipidoses: Clinical Characteristics of 41 Pediatric Patients

Atchayaram Nalini, MBBS, DM

Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India, nalini{at}nimhans.kar.nic.in

Rita Christopher, MBBS, MD

Department of Neurochemistry National Institute of Mental Health and Neurosciences, Bangalore, India

A retrospective clinical and biochemical analysis of 41 pediatric patients with cerebral lipidoses seen between 1995 to 2003 was performed at a tertiary referral center for neurologic disorders in southern India. Enzyme assays in serum and leukocytes, including histopathology, neuroimaging, and neurophysiology studies, were performed. There were 20 cases of metachromatic leukodystrophy (infantile, 14; juvenile, 6), 12 cases of Tay-Sachs disease (infantile, 9; late G M2-M3 gangliosidoses, 3), 8 cases of Sandhoff's disease, and 1 male case with multiple sulfatase deficiency. Consanguinity was present in 51.2% of cases. The male-to-female ratio was 23:17. Similar illness in the families was noted in 24.4%. The prominent clinical features in sulfatide lipidoses were regression of motor and mental milestones, seizures, and speech impairment, and in GM2 gangliosidoses, the features were delayed milestones, startle myoclonus, seizures, and the presence of cherry-red spots. The case with multiple sulfatase deficiency had low levels of arylsulfatase A and B. This study indicates that these autosomal recessive inherited disorders are indeed prevalent in India. (J Child Neurol 2004; 19:447-452).


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