Why the study?
In Menkes disease, white matter involvement is less well-characterized, most lesions stem from vasogenic edema, and reports of cytotoxic changes are rare.
Menkes disease can present with cytotoxic white matter lesions in the centrum semiovale, indicating a risk of metabolic injury in addition to ischemia.
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Characterizes white matter edema in Menkes disease; leaves open distinct cytotoxic mechanisms and clinical relevance.
Background Menkes disease is a rare disorder of copper metabolism characteristically presenting kinky hair as well as neurological symptoms, including epilepsy, developmental delay, and hypotonia. While the kinky hair is a consistent and distinguishing feature, the other symptoms are nonspecific. Neuroimaging studies often find vascular tortuosity and cerebral atrophy whereas white matter involvement is less well-characterized. Most of the lesions stem from vasogenic edema, and reports of cytotoxic changes are rare. Case presentation We report herein a 10-month-old, male patient with Menkes disease who presented with developmental delay and epileptic spasms. Diffusion-weighted imaging (DWI) revealed symmetrical, oval-shaped areas of hyperintensity with a decreased apparent diffusion coefficient (ADC) in the bilateral centrum semiovale. Proton magnetic resonance spectroscopy ( 1 H-MRS) demonstrated elevated lactate, suggesting an underlying mitochondrial dysfunction. Conclusion The findings of the present case indicated that Menkes disease can present not only vascular abnormalities but also cytotoxic white matter lesions in the centrum semiovale, thus highlighting the risk of metabolic injury in addition to that of ischemia.
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Kawakami et al. (2025) studied this question.
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