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Abnormal myelination in Angelman syndrome

Inga Harting1, Angelika Seitz, Dietz Rating

  • 1Department of Neuroradiology, University Hospital Heidelberg, Germany. inga.harting@med.uni-heidelberg.de

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|June 25, 2008
PubMed

Insights

Brain imaging in Angelman syndrome (AS) often appears normal. However, MRI studies reveal myelination delay and white matter deficits in infants with AS, which can be diagnostically misleading.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Angelman syndrome (AS) is a genetic disorder characterized by developmental delay, speech impairment, and motor deficits.
  • Brain imaging studies in AS patients are typically considered normal, with only occasional reports of minor cerebral atrophy.

Purpose of the Study:

  • To investigate the neuroimaging findings in infants and young children with genetically confirmed Angelman syndrome.
  • To determine if magnetic resonance imaging (MRI) reveals abnormalities not typically associated with AS.

Main Methods:

  • Retrospective analysis of MRI scans from 9 patients with genetically proven Angelman syndrome.
  • Patients' ages ranged from 7.5 months to 5 years at the time of examination.

Main Results:

  • MRI scans of 5 infants (under 1 year) showed evidence of myelination delay and white matter deficits.
  • These findings suggest that abnormal myelination is a common, yet potentially misleading, characteristic in early-stage Angelman syndrome.

Conclusions:

  • Myelination delay and white matter abnormalities are common findings in infants with Angelman syndrome.
  • These neuroimaging findings can be diagnostically misleading, especially in infants presenting with nonspecific clinical features.
  • Early recognition of these MRI findings is crucial for the accurate diagnosis of Angelman syndrome in infants.

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