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Infantile Alexander disease: A rare leukodystrophy

Infantile Alexander disease (AD) is a rare leukodystrophy characterized by its early onset within 2 years of life and clinically presents with macrocephaly, seizures, and retarded psychomotor development. Magnetic resonance imaging (MRI) shows characteristic symmetric white matter abnormalities with...

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Detalles Bibliográficos
Autores principales: Kumar, K. Jagadish, Suryaprakash, H., Manjunath, V. G., Harsha, S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519068/
https://www.ncbi.nlm.nih.gov/pubmed/23248690
http://dx.doi.org/10.4103/1817-1745.102573
Descripción
Sumario:Infantile Alexander disease (AD) is a rare leukodystrophy characterized by its early onset within 2 years of life and clinically presents with macrocephaly, seizures, and retarded psychomotor development. Magnetic resonance imaging (MRI) shows characteristic symmetric white matter abnormalities with frontal predominance. We present a case of infantile AD with typical clinical characteristics and MRI features.