2016年
A senile case of late-onset Pompe’s disease
Internal Medicine
- ,
- ,
- ,
- 巻
- 55
- 号
- 18
- 開始ページ
- 2723
- 終了ページ
- 2725
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.2169/internalmedicine.55.6803
- 出版者・発行元
- Japanese Society of Internal Medicine
A 72-year-old, seemingly healthy, Japanese man suddenly lost consciousness. At the emergency room, the patient’s Glasgow coma scale score was 10 and a thoracic breathing pattern was observed. An arterial blood gas analysis indicated acute hypercarbic respiratory failure. He was placed on non-invasive positive pressure ventilation. The next day he was alert. Manual muscle testing revealed that his face, neck and limb muscle strength were normal. He could walk, and Gowers’ sign was not observed. Computed tomography showed atrophy of the paravertebral, abdominal wall and diaphragm crura muscles, without apparent limb muscle involvement. Pompe’s disease was diagnosed based on the results of biochemical and genetic tests for acid alpha-glucosidase.
- リンク情報
- ID情報
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- DOI : 10.2169/internalmedicine.55.6803
- ISSN : 1349-7235
- ISSN : 0918-2918
- ORCIDのPut Code : 51485723
- PubMed ID : 27629975
- SCOPUS ID : 84987824739