Dirik E, Aydin A, Kurul S, Sahin B
Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.
Pediatr Neurol. 2001 Mar;24(3):235-7. doi: 10.1016/s0887-8994(00)00262-9.
The occurrence of respiratory failure in progressive neuromuscular disorders is well recognized. This failure is observed most commonly in Duchenne dystrophy but sometimes occurs in Becker's, limb-girdle, and facioscapulohumeral dystrophies. Patients usually present acutely or subacutely with cyanosis and cor pulmonale, with severe decompensation often being precipitated by an acute intercurrent infection. However, cardiopulmonary arrest is an uncommon presentation. A male diagnosed with limb-girdle muscular dystrophy type 2A who presented with cardiopulmonary arrest that was precipitated by an upper respiratory tract infection is presented. The nocturnal application of noninvasive intermittent positive pressure ventilation with a bilevel positive airway pressure (Bi-PAP) device improved his symptoms and quality of life without resorting to more-invasive and more-restrictive forms of support. This report demonstrates an unusual presentation of limb-girdle muscular dystrophy and documents that nocturnal nasal administration of continuous airway pressure using the Bi-PAP device may be sufficient to maintain adequate ventilation in such patients.
进行性神经肌肉疾病中呼吸衰竭的发生已得到充分认识。这种衰竭最常见于杜氏肌营养不良症，但有时也发生在贝克氏、肢带型和面肩肱型肌营养不良症中。患者通常急性或亚急性出现紫绀和肺心病，严重失代偿常由急性并发感染诱发。然而，心肺骤停是一种不常见的表现。本文报告了一名被诊断为2A型肢带型肌营养不良症的男性患者，他因上呼吸道感染而出现心肺骤停。夜间使用双水平气道正压（Bi-PAP）设备进行无创间歇正压通气改善了他的症状和生活质量，而无需采用更具侵入性和限制性的支持形式。本报告展示了肢带型肌营养不良症的一种不寻常表现，并证明夜间使用Bi-PAP设备经鼻给予持续气道正压可能足以维持此类患者的充分通气。
