METACHROMATIC leukodystrophy (MLD) encompasses a heterogeneous group of diseases characterized by the accumulation of sulfatides in the brain.1,2 The diagnosis was originally dependent upon metachromatic staining of tissues, but newer techniques of biochemistry and histochemistry permit early recognition and separation into categories.3,4 Electron microscopy has recently disclosed oligodendroglial lamellar inclusions which seem to be characteristic of MLD and have not been found in other diseases.5-7
This report describes a 5-year-old boy with progressive cerebral disease. Parental consanguinity suggests a recessively inherited disorder. Ultrastructural abnormalities in cerebral biopsy were similar to those in previous reports of MLD, but specific enzyme determinations and routine morphological examinations showed no abnormalities. Because of the ultrastructural findings, we propose that this case represents either an early phase of late infantile MLD or a closely related but genetically distinct variant of this disorder.
This boy's development was normal until age 22/2
Fogelson MH, Gonatas NK, Rorke LB, Spiro A. Oligodendroglial Lamellar Inclusions: In a Probable Variant of Metachromatic Leukodystrophy. Arch Neurol. 1968;19(2):150–155. doi:10.1001/archneur.1968.00480020036003
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