Last modified: 2018-09-09
Abstract
Introduction
Leukodystrophies are progressive disorders with primary white matter involvement with underlying biochemical or molecular defect. Clinicoradiological approach is the key to diagnosis of a child with suspected leukodystrophy.
Methods
Retrospective chart review of consecutive children with suspected leukodystrophy presenting to a north Indian tertiary care hospital over 7 years was done.
Results
The cases have been grouped into five categories: Hypomyelinating, demyelinating, disorders with vacuolization, cystic, and miscellaneous. Of 116 cases, 33 were hypomyelinating disorders. Among hypomyelinating leukodystrophies, 11 were Pelizaeus Merzbacher disease, 2 were PMLD (radiological), 3 each had GM1 and GM2 gangliosidosis, 1 each had cockayne and fucosidosis and 2 had 4 H syndrome. Ten children had hypomyelinating disorders of unknown etiology.
Group with leukodytrophies with demyelination included Metachromatic leurkodystrophy (17), Adrenoleukodystrophy (16), Krabbe disease(7), Alexander disease (2) and mitochondrial disease (1; genetic diagnosis unavailable). Five patients had white matter disorder with vacuolation including Vanishing white matter disease (2) and canavan disease(3). Cystic leukodystrophies were constituted by Megalencephalic leukoencephalopathy with subcortical cysts (28) and mitochondrial leukodystrophies (3). Calcifying leukodystrophies were constituted by Aicardi goutiere syndrome (2). Other miscellaneous leukodytrophies included leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (1). Most patients had a clinicoradiological basis for diagnosis
Conclusion: Leukodystrophies have a progressively downhill clinical course. Early diagnosis is imperative for appropriate genetic counseling. A simplified clinicoradiological approach can be helpful in directing focused genetic testing in resource limited setting.