TY - JOUR AU - Choudhary, Richa AU - Choudhary, Anita AU - Sitaraman, S PY - 2016/01/20 Y2 - 2024/03/28 TI - Menkes Disease- A Rare Neurodegenerative Disorder JF - Journal of Nepal Paediatric Society JA - J. Nepal Paedtr. Soc. VL - 35 IS - 2 SE - Brief Reports/Case Reports/Case Series DO - 10.3126/jnps.v35i2.11966 UR - https://www.nepjol.info/index.php/JNPS/article/view/11966 SP - 177-180 AB - <p>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.</p><p>J Nepal Paediatr Soc 2015;35(2):177-180</p> ER -