van Son J, Rietbroek R C, Vaz F M, Hollak C E M
Red Cross Hospital, Beverwijk, the Netherlands.
Neth J Med. 2019 Jan;77(1):25-28.
This case report presents an adult patient with decreased levels of consciousness and bizarre behavior. A silent delirium was first suspected however, symptoms did not improve and further examination revealed elevated ammonia levels. A hepatic cause and portosystemic shunting were excluded and eventually a diagnosis of ornithine transcarbamylase deficiency was made. After treatment with high carbohydrate intake, a low protein diet and supplementation with arginine and sodium benzoate, the patient recovered.
本病例报告介绍了一名成年患者,其意识水平下降且行为怪异。最初怀疑是安静型谵妄,然而症状并未改善,进一步检查发现氨水平升高。排除了肝脏病因和门体分流,最终诊断为鸟氨酸转氨甲酰酶缺乏症。经过高碳水化合物摄入、低蛋白饮食以及补充精氨酸和苯甲酸钠治疗后,患者康复。