Introduction: The term ‘leukodystrophies’ refers to the disorders with primary white matter involvement with demonstrable biochemical or molecular defect and usually with a progressive clinical course.  This study aimed to describe the spectrum of leukodystrophies managed at a tertiary care and referral centre in north India.

Methods: The medical records of children diagnosed with a leukodystrophy at a tertiary care, referral hospital in North India from January 2008 to December 2012, were retrospectively reviewed. The diagnosis was based on the clinical phenotype, suggestive neuroimaging and definitive investigations where applicable and available.  The data was extracted as per a pre-designed proforma. The clinical and radiological data of each case was subsequently summarized and reported.

Results: During the study period, 83 cases were diagnosed as a leukodystrophy. The white matter disorders with demyelination (27/83; 32.5%) were the most common (Metachromatic leukodystrophy-12; X-linked Adrenoleukodystrophy-8; Krabbe Disease-5; Alexander Disease-2). This was followed by hypomyelinating disorders (26/83; 31.3%; Pelizaeus-Merzbacher Disease-10; Pelizaeus-Merzbacher like disorders-1; GM1 gangliosidosis-2; GM2 gangliosidosis-2; Fucosidosis-1; Cockayne Symdrome-1; 4H syndrome-1; Unknown etiology-8). The other disorders included Megalencephalic leukoencephalopathy with subcortical cysts (21), Canavan Disease (3), Vanishing white matter disease (2), Suspected Aicardi-Goutieres syndrome (1), Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (1) and Leukoencephalopathy with anterior temporal lobe cysts (2).

Conclusions: The clinical and radiological clues may be helpful in guiding the investigations of a child with suspected leukodystrophy.