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Unusual magnetic resonance imaging features in Menkes disease
Christine Barnerias1, Nathalie Boddaert, Pascale Guiraud
1Department of Paediatric Neurology and Metabolic Disease, Hopital Necker Enfants Malades, 149 rue de Sevres, AP-HP, 75743 Paris Cedex 15, France.
Abstract:
We present a case of an inherited disorder of copper metabolism, Menkes disease in which MRI studies revealed the coexistence of T2 hypersignal in the temporal white matter with an increase of apparent diffusion coefficient indicative of vasogenic oedema combined with T2 hypersignal of the putamen and head of the caudate and decreased apparent diffusion coefficient indicative of cytotoxic oedema. These unusual MRI features emphasize the interest of newly developed techniques in early diagnosis in Menkes disease. The acute cerebral damage might result from the combined effects of acute metabolic stress due to infectious disease and prolonged status epilepticus, acting on a highly susceptible developing brain. Vasogenic oedema in the temporal white matter could be related to prolonged status epilepticus and vascular abnormalities. Cytotoxic oedema of the putamen and head caudate could result from energetic failure.
Insights
Menkes disease, an inherited copper metabolism disorder, presents unique MRI findings. Advanced imaging techniques aid in early diagnosis by detecting both vasogenic and cytotoxic edema in the brain.
Area of Science:
- Neurology
- Medical Genetics
- Radiology
Background:
- Menkes disease is a rare inherited disorder of copper metabolism.
- It affects copper transport, leading to neurological dysfunction and connective tissue abnormalities.
Observation:
- This case highlights unusual MRI findings in Menkes disease.
- MRI revealed T2 hypersignal with increased ADC in temporal white matter (vasogenic edema).
- T2 hypersignal with decreased ADC in the putamen and caudate nucleus (cytotoxic edema) was also observed.
Findings:
- The coexistence of vasogenic and cytotoxic edema on MRI is atypical for Menkes disease.
- These findings suggest complex cerebral damage mechanisms.
- Potential causes include metabolic stress, status epilepticus, and underlying vascular abnormalities.
Implications:
- Newly developed MRI techniques can aid in the early diagnosis of Menkes disease.
- Understanding these distinct edema patterns is crucial for accurate diagnosis and management.
- The study underscores the impact of metabolic disorders on brain development and function.
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