Menkes Disease in Children: Report of Two Rare Cases First Diagnosed at the National Children Hospital
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Abstract
We report the first two cases of Menkes disease diagnosed at the National Children Hospital. Both patients were male infants with seizure onset at 3 months of age, showing a drug-resistant course, generalized hypotonia, global developmental delay, and hypopigmentation of the skin and hair. In the first case, brain magnetic resonance angiography revealed abnormally tortuous cerebral arteries, with low level of serum ceruloplasmin (0.041 g/L). In the second case, both serum ceruloplasmin (0.027 g/L) and serum copper levels were reduced (< 2 µmol/L), brain MRI demonstrated tortuous cerebral vessels accompanied by abnormal signal changes in the white matter and basal ganglia. Genetic analysis identified pathogenic variants in the ATP7A gene, confirming the diagnosis of Menkes disease in both cases. These cases highlight the need to consider Menkes disease early in infants with early-onset, drug-resistant epilepsy associated with characteristic hair and skin abnormalities and tortuous cerebral vasculature, and underscore the critical role of genetic testing in establishing a definitive diagnosis and providing appropriate genetic counseling for affected families.
Article Details
Keywords
Menkes disease, ATP7A, drug-resistant epilepsy, copper metabolism disorder, children
References
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