Publication: Menkes Disease- A Rare Neurodegenerative Disorder
Date
2015
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 177 - 180
Publisher
Nepal Paediatric Society (JNPS)
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.
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
Keywords
Menkes Disease, Developmental delay, Kinky hair, Refractory seizures, Neurodegenerative disorder
Identifier
https://doi.org/10.3126/jnps.v35i2.11966