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<p>We present an uncommon and late first presentation of a&#xa0;urea cycle disorder (UCD) in a&#xa0;10-year-old boy, with acute aggressive behavior towards self and others, followed by progressive encephalopathy and brain edema. Retrospectively, learning difficulties and attention deficits were indicators for the UCD. This case illustrates how important knowledge of the chronic presentation forms of UCDs and ammonia measurement are in the differential diagnosis of altered consciousness, cognitive disorders and behavioral problems in children and adolescents.</p>

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Autoaggressives Verhalten und progrediente Enzephalopathie

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年6月29日

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  • Diana Petrova,
  • Thorsten Marquardt,
  • Julien Park,
  • Oliver Schwartz,
  • Eric Stengel,
  • Erik Bindel,
  • Ingeborg van den Heuvel,
  • Jenny Potratz

摘要

We present an uncommon and late first presentation of a urea cycle disorder (UCD) in a 10-year-old boy, with acute aggressive behavior towards self and others, followed by progressive encephalopathy and brain edema. Retrospectively, learning difficulties and attention deficits were indicators for the UCD. This case illustrates how important knowledge of the chronic presentation forms of UCDs and ammonia measurement are in the differential diagnosis of altered consciousness, cognitive disorders and behavioral problems in children and adolescents.