Menkes Disease- A Rare Neurodegenerative Disorder

Journal of Nepal Paediatric Society

Richa Choudhary³  Anita Choudhary¹  S Sitaraman² 

[1] Assistant Professor,Department of Pediatrics,Sawai Man Singh Medical College,Jaipur;Professor, Department of Pediatrics, Sawai Man Singh Medical College, Jaipur;Senior Resident,Department of Pediatrics,Sawai Man Singh Medical College,Jaipur-302004

关键词: Menkes Disease;    Developmental delay;    Kinky hair;    Refractory seizures;    Neurodegenerative disorder;   

DOI  :  

学科分类：儿科学

来源: Nepal Paediatric Society

【 摘 要 】

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.

【 授权许可】

Unknown