Magnetic resonance imaging "tigroid patterno" in Alexander disease

Roberta Biancheri, Andrea Rossi, Isabella Ceccherini, Marianna Pezzella, Giulia Prato, Pasquale Striano, Carlo Minetti

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)174-176
Number of pages3
JournalNeuropediatrics
Volume44
Issue number3
DOIs
Publication statusPublished - 2013

Fingerprint

Alexander Disease
Magnetic Resonance Imaging
Pelizaeus-Merzbacher Disease
Glial Fibrillary Acidic Protein
Missense Mutation
Intellectual Disability
Nervous System
Genes
Disease Progression
Seizures
Mutation
White Matter

Keywords

  • Alexander disease
  • GFAP
  • tigroid pattern

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Magnetic resonance imaging "tigroid patterno" in Alexander disease. / Biancheri, Roberta; Rossi, Andrea; Ceccherini, Isabella; Pezzella, Marianna; Prato, Giulia; Striano, Pasquale; Minetti, Carlo.

In: Neuropediatrics, Vol. 44, No. 3, 2013, p. 174-176.

Research output: Contribution to journalArticle

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