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Menkes disease: case report of an uncommon presentation with white matter lesions
L M Santos1, Teixeira Cd, L C Vilanova
1Setor de Neurologia Infantil, Escola Paulista de Medicina, Universidade Federal de São Paulo.
Abstract:
Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities. White matter lesions may be present before other features of the disease and may evolve into atrophy. We hereby report a case of Menkes disease with typical history and progression, and an early phase imaging study with important white matter abnormalities, which could have lead to diagnostic difficulties.
Insights
Menkes disease, a rare X-linked copper metabolism disorder, can present with early white matter abnormalities on neuroimaging. These findings may precede other symptoms, potentially complicating diagnosis.
Area of Science:
- Neurogenetics
- Metabolic disorders
- Pediatric neurology
Background:
- Menkes disease is a rare X-linked genetic disorder affecting copper transport and metabolism.
- It typically manifests with neurological and connective tissue abnormalities.
- Common neuroimaging findings include cortical atrophy, subdural effusions, and vascular issues.
Observation:
- This report details a case of Menkes disease with a classic clinical progression.
- An early-phase imaging study revealed significant white matter abnormalities.
- These early findings presented diagnostic challenges.
Findings:
- White matter lesions can be an early indicator in Menkes disease, preceding other characteristic signs.
- The evolution of white matter lesions can contribute to the progressive atrophy seen in the disorder.
- Neuroimaging plays a crucial role in identifying subtle, early-stage manifestations.
Implications:
- Recognizing early white matter changes in neuroimaging is vital for timely Menkes disease diagnosis.
- This case highlights the importance of considering Menkes disease even with atypical initial imaging presentations.
- Further research into early diagnostic markers for Menkes disease is warranted.