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- Sulaiman Raashda Ainuddin
- Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre College of Medicine, Alfaisal University
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- Shaheen Marwan Yassin
- Department of Hematology, King Faisal Specialist Hospital and Research Centre
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- Al-Zaidan Hamad
- Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre College of Medicine, Alfaisal University
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- Al-Hassnan Zuhair
- Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre College of Medicine, Alfaisal University
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- Al-Sayed Moeenaldeen
- Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre College of Medicine, Alfaisal University
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- Rahbeeni Zuhair
- Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre College of Medicine, Alfaisal University
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- Bakshi Nasir Ahmed
- Department of Pathology, King Faisal Specialist Hospital and Research Centre
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- Kaya Namik
- Department of Genetics, King Faisal Specialist Hospital and Research Centre
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- Aldosary Mazhor
- Department of Genetics, King Faisal Specialist Hospital and Research Centre
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- Al-Owain Mohammed
- Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre College of Medicine, Alfaisal University
抄録
We report an unusual case of recurrent encephalopathy due to acquired hemophagocytic lymphohistiocytosis (HLH) in a patient with propionic acidemia (PA). PA is an inherited metabolic disorder in which patients often present with encephalopathy and pancytopenia during metabolic decompensation. However, these patients may rarely develop HLH with similar presentation. This case illustrates the need to distinguish HLH induced encephalopathy from the one secondary to metabolic decompensation in these patients, as early diagnosis and treatment of HLH improves prognosis. This case also highlights the importance of considering HLH in patients presenting with unexplained encephalopathy, as early diagnosis and treatment is lifesaving in this otherwise lethal condition. To our knowledge this is the first case report of acquired HLH presenting as recurrent encephalopathy followed by complete recovery, in a metabolically stable patient with PA.
収録刊行物
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- Intractable & Rare Diseases Research
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Intractable & Rare Diseases Research 5 (3), 227-230, 2016
特定非営利活動法人 バイオ&ソーシャル・サイエンス推進国際研究交流会
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詳細情報 詳細情報について
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- CRID
- 1390282680521734016
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- NII論文ID
- 130005410366
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- ISSN
- 2186361X
- 21863644
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- Crossref
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可