Browsing by Author "Sitaraman, S"
Now showing 1 - 1 of 1
Results Per Page
Sort Options
Publication Menkes Disease- A Rare Neurodegenerative Disorder(Nepal Paediatric Society (JNPS), 2015) Choudhary, Richa; Choudhary, Anita; Sitaraman, SAbstract: 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.