Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations

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• 作者：Valentina Lolli ; Gustavo Soto Ares ; Jean-Pierre Pruvo…
• 关键词：Chédiak ; Higashi syndrome ; Hemophagocytic lymphohistiocytosis ; Oculocutaneous albinism ; Magnetic resonance imaging (MRI) ; MR spectroscopy (MRS) ; Child
• 刊名：Pediatric Radiology
• 出版年：2015
• 出版时间：August 2015
• 年：2015
• 卷：45
• 期：8
• 页码：1253-1257
• 全文大小：1,898 KB
• 参考文献：1.Sung JH, Meyers JP, Stadlan EM et al (1969) Neuropathological changes in Chédiak-Higashi disease. J Neuropathol Exp Neurol 28:86-18View Article PubMed
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  4.Herman TE, Lee BC (1999) Accelerated phase of Chédiak-Higashi syndrome diffuse white-matter-enhancing lesions. Pediatr Radiol 29:527-29View Article PubMed
  5.Ballard R, Tien RD, Nohria V et al (1994) The Chédiak-Higashi syndrome: CT and MR findings. Pediatr Radiol 24:266-67View Article PubMed
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  7.Rego I, Severino M, Micalizzi C et al (2012) Neuroradiologic findings and follow-up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement. Pediatr Blood Cancer 58:810-14View Article PubMed
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• 作者单位：Valentina Lolli (1)
  Gustavo Soto Ares (1)
  Jean-Pierre Pruvo (1)
  Wadih Abou Chahla (2)
  Patrice Jissendi-Tchofo (3)
  
  1. Neuroradiology Department, Roger Salengro Hospital, CHRU, Lille, France
  2. Pediatric Hematology and Oncology Department, Jeanne de Flandre Hospital, Lille, France
  3. Radiology Department -Pediatric Neuroradiology Section, University Hospital Saint-Pierre, Brussels, Belgium
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Imaging and Radiology
  Pediatrics
  Neuroradiology
  Nuclear Medicine
  Ultrasound
  Oncology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1998

文摘

Chédiak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well.