Neuropediatrics 2013; 44(03): 174-176
DOI: 10.1055/s-0032-1329910
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Magnetic Resonance Imaging “Tigroid Pattern” in Alexander Disease

Roberta Biancheri
1   Department of Neuroscience, Istituto G. Gaslini, Genova, Italy
,
Andrea Rossi
2   Pediatric Neuroradiology, Istituto G. Gaslini, Genova, Italy
,
Isabella Ceccherini
3   Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy
,
Marianna Pezzella
1   Department of Neuroscience, Istituto G. Gaslini, Genova, Italy
,
Giulia Prato
1   Department of Neuroscience, Istituto G. Gaslini, Genova, Italy
,
Pasquale Striano
1   Department of Neuroscience, Istituto G. Gaslini, Genova, Italy
,
Carlo Minetti
1   Department of Neuroscience, Istituto G. Gaslini, Genova, Italy
› Institutsangaben
Weitere Informationen

Publikationsverlauf

05. September 2012

03. Oktober 2012

Publikationsdatum:
19. Dezember 2012 (online)

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Abstract

Alexander disease (AD) is a rare white matter disorder resulting from mutations in the gene encoding for the glial fibrillary acidic protein. Diffuse white matter involvement with frontal predominance is typical of infantile AD that is clinically characterized by progressive motor and mental retardation, seizures, and megaloencephaly. We describe the case of a 10-year-old patient harboring a de novo missense mutation c.235C > T (p.R79C) in the GFAP gene, showing a relatively slow clinical and neuroradiologic progression of disease associated with a previously unreported magnetic resonance imaging (MRI) finding consistent with the so-called tigroid pattern. This pattern has been previously described in only a few different neurologic conditions, including Pelizaeus-Merzbacher disease and some lysosomal disorders. This report expands the spectrum of MRI features in AD.