Severe ketoacidosis in a patient with spinal muscular atrophy

被引：14
作者：
Lakkis B. [1 ]
El Chediak A. [1 ]
Hashash J.G. [1 ,2 ]
Koubar S.H. [1 ,3 ]
机构：
[1] Department of Internal Medicine, American University of Beirut, Beirut
[2] Division of Gastroenterology, Department of Internal Medicine, American University of Beirut, Beirut
[3] Division of Nephrology and Hypertension, Department of Internal Medicine, American University of Beirut, Beirut
来源：
CEN Case Reports | 2018年 / 7卷 / 2期
关键词：
Glucose metabolism; Ketoacidosis; Neuromuscular disease; Spinal muscular atrophy;
D O I：
10.1007/s13730-018-0345-y
中图分类号：
学科分类号：
摘要：
Spinal muscular atrophy (SMA) is a genetic neuromuscular disease characterized by progressive muscle weakness and atrophy. We report a case of a 36-year-old man with SMA type 3 who presented to our emergency department with epigastric pain and vomiting. He was found to have severe ketoacidosis on laboratory evaluation. The patient's symptoms and ketoacidosis resolved after dextrose infusion and a relatively small amount of sodium bicarbonate infusion. Given the severity of the ketosis that seemed inconsistent with moderate starvation alone, we postulate that there must have been other contributing factors besides moderate starvation that might explain the severity of acidosis in this particular patient. These factors include low muscle mass, disturbed fatty acid metabolism, hormonal imbalances and defective glucose metabolism. Ketoacidosis is an under-recognized entity in patients with neuromuscular diseases and requires a high index of suspicion for prompt diagnosis and management.
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页码：292 / 295
页数：3
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