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An Unusual Presentation of Menkes Disease Masquerading as a Leukodystrophy with Macrocephaly
BACKGROUND: Menkes disease is an X-linked neurodegenerative disease caused by mutation in ATP7A gene, which codes for copper-transporting ATPase. It usually presents in early infancy with neuro-regression, hypotonia, seizures, and kinky hair. Magnetic resonance imaging (MRI) of the brain shows cereb...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227752/ https://www.ncbi.nlm.nih.gov/pubmed/32435310 http://dx.doi.org/10.4103/JPN.JPN_141_18 |