Lakkis Bassel, El Chediak Alissar, Hashash Jana G, Koubar Sahar H
Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.
Division of Gastroenterology, Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.
CEN Case Rep. 2018 Nov;7(2):292-295. doi: 10.1007/s13730-018-0345-y. Epub 2018 Jul 5.
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.
脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，其特征为进行性肌肉无力和萎缩。我们报告一例36岁3型SMA男性患者，他因上腹部疼痛和呕吐前来我院急诊科就诊。实验室检查发现他患有严重的酮症酸中毒。静脉输注葡萄糖和相对少量的碳酸氢钠后，患者的症状和酮症酸中毒得到缓解。鉴于酮症的严重程度似乎与单纯的中度饥饿不一致，我们推测除了中度饥饿外，必定还有其他因素导致该特定患者酸中毒严重。这些因素包括低肌肉量、脂肪酸代谢紊乱、激素失衡和葡萄糖代谢缺陷。酮症酸中毒在神经肌肉疾病患者中是一个未被充分认识的情况，需要高度怀疑以进行及时诊断和处理。
