Abstract

Metachromatic leukodystrophy (MLD) is a set of several disorders caused by deficient lysosomal activity. This deficiency results in accumulation of a metachromatic lipid material, galactosylceramide sulfatide, leading to the breakdown of the myelin sheath in both central and peripheral nervous

Highlights

  • An undernourished 2-year-old girl was hospitalized as a result of uncontrollable vomiting and retarded neuropsychomotor development

  • Cranial nerve Gd enhancement can be seen in a variety of entities, including neoplastic, infectious, demyelinating, and idiopathic diseases.[3,4,5]

  • Cranial nerve involvement has been documented in infantile Krabbe disease.[6,7]

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Summary

Introduction

An undernourished 2-year-old girl was hospitalized as a result of uncontrollable vomiting and retarded neuropsychomotor development. The baseline MR imaging scan showed bilateral and symmetrical involvement of the posterior periventricular white matter and splenium of the corpus callosum, sparing the U fibers.

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Conclusion
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