| ORIGINAL ARTICLE |
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| Year : 2016 | Volume
: 64
| Issue : 2 | Page : 228--232 |
Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome
Marcio Leyser1, Marcia de Castro Diniz Gonsalvez2, Pedro Erthal de Souza Vianna2, Paulo Andre Fernandes2, Ricardo Silva Carvalho2, Marcio Moacyr Vasconcelos3, Osvaldo JM Nascimento4
1 Department of Developmental Pediatrics, The SARAH Network of Rehabilitation Hospitals – SARAH International Center for Neurorehabilitation and Neuroscience, Brazil
2 Department of Neuroradiology, The SARAH Network of Rehabilitation Hospitals – SARAH International Center for Neurorehabilitation and Neuroscience, Brazil
3 Department of Child Neurology, Antonio Pedro University Hospital/Federal Fluminense University, Brazil
4 Department of Neurology, Antonio Pedro University Hospital/Federal Fluminense University, Brazil
Correspondence Address:
Marcio Leyser
Avenida Arroio Pavuna, S/N. Rio de Janeiro, RJ 22775-020
Brazil
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.177615
Background: 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.
Material and Methods: 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.
Results: 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.
Conclusion: 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.
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