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

被引：0
作者：
Giulia Perucca
Bruno P. Soares
Serena Staglianò
James Davison
Anupam Chakrapani
Felice D’Arco
机构：
[1] Regina Margherita Children’s Hospital,Division of Pediatric Radiology
[2] Johns Hopkins University School of Medicine,Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science
[3] Catholic University,Department of Radiological Sciences, Institute of Radiology, Fondazione Policlinico Universitario A. Gemelli, School of Medicine
[4] Great Ormond Street Hospital for Children NHS Foundation Trust,Metabolic Medicine Unit
[5] Great Ormond Street Hospital for Children NHS Foundation Trust,Department of Neuroradiology
来源：
Neuroradiology | 2018年 / 60卷
关键词：
Gaucher disease; Magnetic resonance imaging; Diffusion-weighted imaging; Lysosomal storage disorders; Brain;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
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页码：1353 / 1356
页数：3
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  • [1] Dandana A(2016)Gaucher disease: clinical, biological and therapeutic aspects Pathobiology 83 13-23
  • [2] Ben Khelifa S(2003)Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3 Neurobiology of Disease 14 595-601
  • [3] Chahed H(2013)Proton MR spectroscopy of the brain in children with neuronopathic Gaucher’s disease Eur Radiol 23 3005-3011
  • [4] Miled A(2007)Neurological and brain MRS findings in patients with Gaucher disease type 1 Mol Genet Metab 91 390-395
  • [5] Ferchichi S(2006)Persistent diffusion abnormalities in the brain stem of three children with mitochondrial diseases AJNR Am J Neuroradiol 27 1924-1926
  • [6] Schueler U.H(2005)Diffusion-weighted imaging of acute excitotoxic brain injury AJNR Am J Neuroradiol 26 216-228
  • [7] Kolter T(2011)Brain white matter abnormalities in paediatric Gaucher type I and type III using diffusion tensor imaging J Inherit Metab Dis 34 549-553
  • [8] Kaneski C.R(2010)Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits Hum Mol Genet 19 1088-1097
  • [9] Blusztajn J.K(2006)Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy Pediatr Res 60 349-352
  • [10] Herkenham M(undefined)undefined undefined undefined undefined-undefined
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