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MINERVA PEDIATRICA

A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry


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Minerva Pediatrica 2006 April;58(2):199-202

language: English

Infantile Alexander’s disease. A case report

Avina Fierro J. A., Ramirez Contreras J. P

Department of Pediatrics Hospital IMSS 14, Guadalajara, Mexico


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The infantile Alexander disease is a leukodystrophy that appears in the early childhood, characterized by megaloencephaly, demyelination and presence of numerous Rosenthal fibers in the brain. This is an illustrative case in the study of patients with megaloencephaly and seizures, emphasizing the differential diagnosis. Our patient is a male infant aged 15 months with megaloencephaly, seizures, changes of behavior and delayed psychomotor development, with corroborated leukodystrophy demyelination in the brain, scanned by computed tomography (CT) and magnetic resonance (MR) imaging. It is a sporadic clinical case of infantile Alexander disease, without a known family history of the disorder. The final diagnosis has been confirmed by the magnetic resonance findings.

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