Aguilera-Astudillo Maria, Zahir Danish, Ullah Muhammad Samee, Mubeen Faiza, Saand Aisha, Shakil Jawairia
Department of Medicine, Houston Methodist Hospital, Houston, Texas.
Department of Medicine, King Edward Medical University, Lahore, Punjab, Pakistan.
AACE Endocrinol Diabetes. 2025 Apr 10;12(1):8-10. doi: 10.1016/j.aed.2025.02.001. eCollection 2025 May-Jun.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by insufficient levels of the survival motor neuron protein; this promotes progressive loss of motor neurons leading to muscular atrophy. Patients with SMA also have metabolic abnormalities that can predispose them to develop ketoacidosis. The objective of this report is to describe a 51-year-old female with SMA type II who presented with nondiabetic ketoacidosis requiring hospitalization.
A 51-year-old female with SMA type II presented with 1 day of diarrhea, decreased oral intake, nausea, and generalized abdominal pain. Her neurologic examination was remarkable for diffuse muscle atrophy with flaccid tone and 0/5 upper extremity and lower extremity reflexes. Laboratory evaluation showed a pH 7.09 (7.35-7.45), pCO 26 mm Hg (35-45 mm Hg), bicarbonate 8.3 mmol/L (21-28 mmol/L), glucose 110 mg/dL (65-99 mg/dL), anion gap 28 mEq/L (7-15 mEq/L), and beta-hydroxybutyrate 7.39 mmol/L (0.02-0.27). The patient received intravenous fluid with dextrose and insulin infusion, and her laboratory values improved after 2 days of treatment with resolution of ketosis.
SMA has significant neuromuscular manifestations due to the loss of motor neurons. However, metabolic and endocrine abnormalities have been described. These abnormalities predispose them to glucose intolerance, insulin resistance, and increased ketone production in times of stress.
Our case demonstrates that despite SMA being mainly a neuromuscular disorder, endocrine abnormalities have been described in these patients. These abnormalities should be considered for appropriate diagnoses and management of the associated metabolic comorbidities.
脊髓性肌萎缩症（SMA）是一种常染色体隐性疾病，其特征是存活运动神经元蛋白水平不足；这会导致运动神经元逐渐丧失，进而引发肌肉萎缩。SMA患者还存在代谢异常，这可能使他们易患酮症酸中毒。本报告的目的是描述一名51岁的II型SMA女性患者，她因非糖尿病性酮症酸中毒而需要住院治疗。
一名51岁的II型SMA女性患者出现腹泻1天、口服摄入量减少、恶心和全腹疼痛。她的神经系统检查显示出弥漫性肌肉萎缩，肌张力松弛，上肢和下肢反射均为0/5。实验室检查结果显示pH值为7.09（7.35 - 7.45），二氧化碳分压26 mmHg（35 - 45 mmHg），碳酸氢盐8.3 mmol/L（21 - 28 mmol/L），葡萄糖110 mg/dL（65 - 99 mg/dL），阴离子间隙28 mEq/L（7 - 15 mEq/L），β-羟丁酸7.39 mmol/L（0.02 - 0.27）。患者接受了含葡萄糖的静脉输液和胰岛素输注，经过2天的治疗，酮症消退，实验室检查值有所改善。
由于运动神经元丧失，SMA有明显的神经肌肉表现。然而，也有代谢和内分泌异常的描述。这些异常使他们在应激状态下易出现葡萄糖不耐受、胰岛素抵抗和酮体生成增加。
我们的病例表明，尽管SMA主要是一种神经肌肉疾病，但这些患者存在内分泌异常。在对相关代谢合并症进行适当诊断和管理时，应考虑到这些异常情况。
