Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease

Giulia Perucca, Bruno P. Soares, Serena Staglianò, James Davison, Anupam Chakrapani, Felice D’Arco

Research output: Contribution to journalArticle

Abstract

Gaucher disease (GD) represents the most common lysosomal storage defect. It is classified into three phenotypes: type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 subacute/chronic neuronopathic. Although children affected by GD may present with a broad spectrum of neurological signs, brain magnetic resonance imaging (MRI) findings are usually normal or non-specific. We report three cases of GD with previously undescribed brain MRI changes mainly affecting the thalami and/or the dentate nuclei. We discuss the possible etiopathogenesis of these abnormalities. Correlation between brain MRI abnormalities, neurological symptoms, and treatment efficacy is still unclear.

Original languageEnglish (US)
Pages (from-to)1353-1356
Number of pages4
JournalNeuroradiology
Volume60
Issue number12
DOIs
StatePublished - Dec 1 2018

Keywords

  • Brain
  • Diffusion-weighted imaging
  • Gaucher disease
  • Lysosomal storage disorders
  • Magnetic resonance imaging

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology
  • Cardiology and Cardiovascular Medicine

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    Perucca, G., Soares, B. P., Staglianò, S., Davison, J., Chakrapani, A., & D’Arco, F. (2018). Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease. Neuroradiology, 60(12), 1353-1356. https://doi.org/10.1007/s00234-018-2116-z