期刊论文详细信息
Journal of Nepal Paediatric Society | |
Menkes Disease- A Rare Neurodegenerative Disorder | |
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
【 预 览 】
Files | Size | Format | View |
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RO201911300021288ZK.pdf | 278KB | download |