Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome

Marcio Leyser; Marcia de Castro Diniz Gonsalvez; Pedro Erthal de Souza Vianna; Paulo Andre Fernandes; Ricardo Silva Carvalho; Marcio Moacyr Vasconcelos; Osvaldo Jm Nascimento

doi:10.4103/0028-3886.177615

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Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome

Journal article

Peer reviewed

Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome

Marcio Leyser, Marcia de Castro Diniz Gonsalvez, Pedro Erthal de Souza Vianna, Paulo Andre Fernandes, Ricardo Silva Carvalho, Marcio Moacyr Vasconcelos and Osvaldo Jm Nascimento

Neurology India, Vol.64(2), pp.228-232

03/2016

DOI: 10.4103/0028-3886.177615

PMID: 26954797

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Abstract

Global developmental delay, lack of speech, and severe epilepsy are the characteristic hallmarks of Angelman syndrome (AS). The purpose of this study was to explore the utility of brain magnetic resonance imaging (MRI) as an ancillary tool for the diagnosis of AS. Brain MRI images of nine laboratory-confirmed patients with AS from a neurorehabilitation center in Rio de Janeiro were reviewed. Each MRI was assessed by a set of two experienced neuroradiologists following a predefined protocol. The main neuroimaging findings revealed in our study were: Thinning of the corpus callosum in five patients; enlargement of lateral ventricles in four patients; and, cerebral atrophy with frontal and temporal predominance in one patient. All patients presented with an increased signal intensity in T2-weighted images and fluid-attenuated inversion recovery (FLAIR) sequences. The lack of specific changes in the brain MRI of children with AS observed in this case series rendered brain MRI a less helpful complementary test. Thus, a definitive diagnosis of AS could only be established on molecular biology that was undertaken based on the clinical suspicion of AS.

Details

Title: Subtitle: Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome
Creators: Marcio Leyser - Department of Developmental Pediatrics, The SARAH Network of Rehabilitation Hospitals - SARAH International Center for Neurorehabilitation and Neuroscience, Brazil
Marcia de Castro Diniz Gonsalvez
Pedro Erthal de Souza Vianna
Paulo Andre Fernandes
Ricardo Silva Carvalho
Marcio Moacyr Vasconcelos
Osvaldo Jm Nascimento
Resource Type: Journal article
Publication Details: Neurology India, Vol.64(2), pp.228-232
DOI: 10.4103/0028-3886.177615
PMID: 26954797
NLM abbreviation: Neurol India
ISSN: 0028-3886
eISSN: 1998-4022
Language: English
Date published: 03/2016
Academic Unit: Stead Family Department of Pediatrics; Developmental and Behavioral Pediatrics
Record Identifier: 9984093230302771

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