Menkes Disease- A Rare Neurodegenerative Disorder

  • 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

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.

J Nepal Paediatr Soc 2015;35(2):177-180

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Author Biography

Richa Choudhary, Senior Resident, Department of Pediatrics, Sawai Man Singh Medical College, Jaipur-302004

 

Senior Resident,

Department of Pediatrics.

Published
2016-01-20
How to Cite
Choudhary, R., Choudhary, A., & Sitaraman, S. (2016). Menkes Disease- A Rare Neurodegenerative Disorder. Journal of Nepal Paediatric Society, 35(2), 177-180. https://doi.org/10.3126/jnps.v35i2.11966
Section
Brief Reports/Case Reports/Case Series