Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review

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• 作者：Sahan P. Semasinghe Bandaralage ; Soheil Farnaghi ; Joel M. Dulhunty…
• 关键词：Biotin ; Fetus ; Holocarboxylase synthetase deficiency ; Intraventricular hemorrhage ; Neonate ; Subependymal cysts ; Ventriculomegaly
• 刊名：Pediatric Radiology
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：46
• 期：3
• 页码：357-364
• 全文大小：490 KB
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• 作者单位：Sahan P. Semasinghe Bandaralage (1) (2)
  Soheil Farnaghi (3)
  Joel M. Dulhunty (4) (5)
  Alka Kothari (4) (5)
  
  1. Gold Coast Hospital and Health Service, Southport, Queensland, 4215, Australia
  2. School of Medicine, Griffith University, Southport, Queensland, 4215, Australia
  3. Caboolture Hospital, Caboolture, Queensland, 4510, Australia
  4. Redcliffe Hospital, Redcliffe, Queensland, 4020, Australia
  5. School of Medicine, The University of Queensland, Herston, Queensland, 4006, Australia
  
• 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

Background Holocarboxylase synthetase deficiency results in impaired activation of enzymes implicated in glucose, fatty acid and amino acid metabolism. Antenatal imaging and postnatal imaging are useful in making the diagnosis. Untreated holocarboxylase synthetase deficiency is fatal, while antenatal and postnatal biotin supplementation is associated with good clinical outcomes. Although biochemical assays are required for definitive diagnosis, certain radiologic features assist in the diagnosis of holocarboxylase synthetase deficiency.