Franconieri Frédéric, Fayolle Sophie, Raviol Prescillia
Internal Medicine, Centre Hospitalier du Forez, Montbrison, FRA.
Cureus. 2025 Apr 19;17(4):e82585. doi: 10.7759/cureus.82585. eCollection 2025 Apr.
Amyotrophic lateral sclerosis (ALS) is often complicated by severe malnutrition, increasing the risk of metabolic disturbances. Non-diabetic ketoacidosis (NDKA) is a rare but serious complication, typically related to prolonged fasting or catabolic states. A 62-year-old female patient with ALS and hypothyroidism presented with pneumonia and tetraplegia. Her body mass index (BMI) was 17 kg/m². Laboratory findings showed a high anion gap (AG) metabolic acidosis (pH 7.23, bicarbonate 13 mmol/L, partial pressure of carbon dioxide (pCO₂) 28 mmHg) without hyperlactatemia, but with significant ketonemia (5 mmol/L), severe hypophosphatemia, and signs of systemic inflammation. Upon admission, she received an intravenous infusion of 4.2% sodium bicarbonate. The simplified strong ion difference (SID) was preserved, excluding dilutional or hyperchloremic causes. Stewart's physicochemical approach, supported by a Gamblegram, revealed an acidosis due to unmeasured fixed acids, specifically ketone bodies. In light of this, bicarbonate therapy was discontinued, and nutritional correction with glucose hydration led to rapid clinical and biochemical improvement. This case illustrates the diagnostic and therapeutic value of Stewart's model in complex acid-base disturbances and underscores the need for early nutritional assessment in ALS patients. To our knowledge, this is the first reported case of NDKA in ALS, highlighting a rare but clinically relevant metabolic complication.
肌萎缩侧索硬化症(ALS)常并发严重营养不良,增加了代谢紊乱的风险。非糖尿病性酮症酸中毒(NDKA)是一种罕见但严重的并发症,通常与长期禁食或分解代谢状态有关。一名62岁患有ALS和甲状腺功能减退症的女性患者出现肺炎和四肢瘫痪。她的体重指数(BMI)为17kg/m²。实验室检查结果显示高阴离子间隙(AG)代谢性酸中毒(pH 7.23,碳酸氢盐13mmol/L,二氧化碳分压(pCO₂)28mmHg),无高乳酸血症,但有明显的酮血症(5mmol/L)、严重低磷血症和全身炎症迹象。入院时,她接受了4.2%碳酸氢钠静脉输注。简化的强离子差(SID)保持正常,排除了稀释性或高氯性原因。由酸碱平衡图支持的斯图尔特物理化学方法显示,酸中毒是由未测定的固定酸,特别是酮体引起的。鉴于此,停止了碳酸氢盐治疗,通过葡萄糖补液进行营养纠正后,临床和生化指标迅速改善。该病例说明了斯图尔特模型在复杂酸碱紊乱中的诊断和治疗价值,并强调了对ALS患者进行早期营养评估的必要性。据我们所知,这是首例报道的ALS合并NDKA病例,突出了一种罕见但具有临床相关性的代谢并发症。