Menkes Disease- A Rare Neurodegenerative Disorder

Choudhary, Richa; Choudhary, Anita; Sitaraman, S

Publication:
Menkes Disease- A Rare Neurodegenerative Disorder

creativeworkseries.issn	ISSN 1990-7974 eISSN 1990-7982
dc.contributor.author	Choudhary, Richa
dc.contributor.author	Choudhary, Anita
dc.contributor.author	Sitaraman, S
dc.date.accessioned	2026-03-19T10:16:44Z
dc.date.available	2026-03-19T10:16:44Z
dc.date.issued	2015
dc.description	Richa 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, Jaipur
dc.description.abstract	Abstract: 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.
dc.identifier	https://doi.org/10.3126/jnps.v35i2.11966
dc.identifier.uri	https://hdl.handle.net/20.500.14572/5246
dc.language.iso	en_US
dc.publisher	Nepal Paediatric Society (JNPS)
dc.subject	Menkes Disease
dc.subject	Developmental delay
dc.subject	Kinky hair
dc.subject	Refractory seizures
dc.subject	Neurodegenerative disorder
dc.title	Menkes Disease- A Rare Neurodegenerative Disorder
dc.type	Article
dspace.entity.type	Publication
local.article.type	Case Report
oaire.citation.endPage	180
oaire.citation.startPage	177
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