Asymmetric cerebral lesion pattern in X-linked adrenoleukodystrophy

Area of Science:

• Neurology
• Genetics
• Biochemistry

Background:

• X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder affecting the adrenal glands and white matter of the brain.
• It results from mutations in the ABCD1 gene, leading to peroxisomal dysfunction and very long-chain fatty acid accumulation.
• The cerebral form of X-ALD often involves progressive demyelination, typically in a symmetric pattern.

Observation:

• A 10-year-old boy presented with cognitive decline and left-sided hemiparesis.
• Brain MRI revealed predominantly asymmetric white matter lesions in the right cerebral hemisphere.
• This contrasts with the usual symmetric involvement seen in X-ALD.

Findings:

• The initial presentation of cerebral X-ALD can manifest as asymmetric demyelination.
• The observed asymmetric lesions progressed and became more symmetric in later stages.
• This case underscores the variability in lesion distribution in X-ALD.

Implications:

• Recognizing asymmetric demyelination is crucial for early diagnosis of X-ALD.
• This finding may prompt earlier intervention and management strategies.
• Further research into the factors influencing lesion asymmetry in X-ALD is warranted.