Atypical Presentation of Metachromatic Leukodystrophy (MLD) Without White Matter Changes
A recent case study published in Neurology International “Metachromatic Leukodystrophy Presenting with Multiple Cranial Nerve and Lumbosacral Nerve Root Enhancement Without White Matter Changes” highlights an unusual presentation of Metachromatic Leukodystrophy (MLD), a rare autosomal recessive disorder characterized by demyelination in both the central and peripheral nervous systems. Traditionally, MLD presents with white matter changes detectable via MRI. However, this report details a case where such changes were absent, underscoring the importance of considering MLD in differential diagnoses even when typical imaging findings are not present.
Case Summary:
- Patient Profile: A 34-year-old female with a history of progressive neurological symptoms, including gait instability, facial numbness, and vision changes over several months.
- Diagnostic Imaging: MRI scans revealed enhancement of multiple cranial nerves and lumbosacral nerve roots without the characteristic white matter abnormalities commonly associated with MLD.
- Laboratory Findings: Elevated cerebrospinal fluid protein levels and reduced arylsulfatase A enzyme activity were noted, supporting the diagnosis of MLD.
- Genetic Testing: Identification of pathogenic mutations in the ARSA gene confirmed the MLD diagnosis.
Clinical Implications:
This case emphasizes that MLD can manifest without the typical white matter changes on MRI, presenting instead with cranial and peripheral nerve enhancements. Clinicians should maintain a high index of suspicion for MLD in patients exhibiting progressive neurological deficits, even when standard imaging does not reveal white matter involvement. Early recognition and accurate diagnosis are crucial for appropriate management and genetic counseling.
For a comprehensive understanding of this case, the full article is accessible here.
This announcement serves to inform healthcare professionals and researchers about the potential for atypical presentations of MLD, encouraging vigilance in diagnostic evaluations.
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