Menkes Disease- A Rare Neurodegenerative Disorder

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چکیده

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Menkes disease: A rare disorder.

Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Physical examination showed sparse and kinky hair. Neurologic...

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ژورنال

عنوان ژورنال: Journal of Nepal Paediatric Society

سال: 2016

ISSN: 1990-7982,1990-7974

DOI: 10.3126/jnps.v35i2.11966