Choudhary, RichaChoudhary, AnitaSitaraman, S2026-03-192026-03-192015https://hdl.handle.net/20.500.14572/5246Richa Choudhary Senior Resident, Department of Pediatrics, Sawai Man Singh Medical College, Jaipur-302004 Anita Choudhary Assistant Professor, Department of Pediatrics, Sawai Man Singh Medical College, Jaipur S Sitaraman Professor, Department of Pediatrics, Sawai Man Singh Medical College, JaipurAbstract: 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.en-USMenkes DiseaseDevelopmental delayKinky hairRefractory seizuresNeurodegenerative disorderArticle