Literature DB >> 16835579

Infantile Alexander's disease. A case report.

J A Avina Fierro1, J P Ramirez Contreras.   

Abstract

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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Year:  2006        PMID: 16835579

Source DB:  PubMed          Journal:  Minerva Pediatr        ISSN: 0026-4946            Impact factor:   1.312


  1 in total

1.  GFAP mutations, age at onset, and clinical subtypes in Alexander disease.

Authors:  M Prust; J Wang; H Morizono; A Messing; M Brenner; E Gordon; T Hartka; A Sokohl; R Schiffmann; H Gordish-Dressman; R Albin; H Amartino; K Brockman; A Dinopoulos; M T Dotti; D Fain; R Fernandez; J Ferreira; J Fleming; D Gill; M Griebel; H Heilstedt; P Kaplan; D Lewis; M Nakagawa; R Pedersen; A Reddy; Y Sawaishi; M Schneider; E Sherr; Y Takiyama; K Wakabayashi; J R Gorospe; A Vanderver
Journal:  Neurology       Date:  2011-09-14       Impact factor: 11.800

  1 in total

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