Chhetri Dipesh, Bhattarai Amit Sharma, Joshi Pankaj, Thapa Kriti
Chirayu National Hospital and Medical Institute, Basundhara, Kathmandu, Nepal.
Department of Anaesthesiology, Maharajgunj Medical Campus, Maharajgunj, Kathmandu, Nepal.
JNMA J Nepal Med Assoc. 2025 Mar;63(283):179-181. doi: 10.31729/jnma.8896. Epub 2025 Mar 31.
We report a unique presentation of a 57-year-old female presented with severe respiratory acidosis, which was found to be a case of Musk-positive Myasthenia Gravis. Patient presented with depressed level of consciousness and respiratory failure, mandating urgent ventilatory support. She responded well with positive pressure ventilation. However, she persistently failed to maintain adequate ventilation after extubation and had to be reintubated. At presentation, the absence of classical symptoms typical of Myasthenia Gravis posed a diagnostic dilemma, initially obscuring the underlying etiology. However, since there was no other identifiable cause for the inability to maintain ventilation, antibody panels were sent which turned out positive for Muscle specific kinase. This case thus highlights the significance of considering atypical neuromuscular presentations, particularly when respiratory compromise is the predominant manifestation, highlighting the necessity for comprehensive neurological evaluation even in the absence of classical symptoms for timely diagnosis and management of Myasthenia Gravis.
我们报告了一例独特的病例，一名57岁女性出现严重呼吸性酸中毒，结果发现是肌肉特异性激酶（Musk）阳性的重症肌无力病例。患者表现为意识水平下降和呼吸衰竭，需要紧急通气支持。她对正压通气反应良好。然而，拔管后她持续无法维持足够的通气，不得不重新插管。就诊时，缺乏重症肌无力的典型症状构成了诊断难题，最初掩盖了潜在病因。然而，由于没有其他可识别的导致无法维持通气的原因，于是进行了抗体检测，结果发现肌肉特异性激酶呈阳性。因此，该病例凸显了考虑非典型神经肌肉表现的重要性，尤其是当呼吸功能不全是主要表现时，强调了即使没有典型症状，也需要进行全面的神经学评估，以便及时诊断和管理重症肌无力。
