Menkes Disease- A Rare Neurodegenerative Disorder
Keywords:
Menkes Disease, Developmental delay, Kinky hair, Refractory seizures, Neurodegenerative disorderAbstract
Menkes Disease is a rare neurological disorder of impaired copper transport, characterized by progressive neurodegeneration, refractory epilepsy and characteristic hair abnormalities. Here, we report a 5 month old child with developmental delay, refractory seizures, and hypopigmented short, sparse hair with microscopic pili torti; low serum copper and ceruloplasmin and neuroimaging revealing white matter hyperintensities and tortuous vessels.
J Nepal Paediatr Soc 2015;35(2):177-180
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