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Isolated cranial nerve enhancement in metachromatic leukodystrophy
Rani K Singh1, Robert T Leshner, Nadja Kadom
1Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.
Pediatric Neurology
|April 22, 2009
Summary
Metachromatic leukodystrophy, a rare lysosomal storage disorder, typically presents with white matter changes. This case highlights cranial nerve enhancement without typical white matter involvement in a child.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by arylsulfatase-A deficiency.
- It leads to the accumulation of sulfatides in the central and peripheral nervous systems.
- Typical MLO diagnosis involves white matter abnormalities on MRI, sparing arcuate fibers.
Observation:
- A 25-month-old female child presented with neurological symptoms including cranial neuropathy and spastic gait.
- Biochemical tests revealed decreased leukocyte arylsulfatase-A activity and elevated urinary sulfatides.
- Cranial MRI showed enhancement of multiple cranial nerves.
Findings:
- The patient's MRI findings were atypical, demonstrating cranial nerve enhancement.
- Intraparenchymal white matter involvement, characteristic of MLO, was notably absent.
- The clinical and biochemical profile confirmed MLO despite the unusual imaging presentation.
Implications:
- This case expands the understanding of MLO's diverse neuroimaging manifestations.
- It underscores the importance of considering MLO even with atypical MRI findings.
- Early diagnosis and recognition of varied presentations are crucial for timely intervention in MLO.
