Thomas Jamie, Butts Taylor, Burtch Jason, Smith Natalie F, Kethireddy Pooja, Gutwein Jenny, Figallo-Cuenca Cristina
Osteopathic Medicine, Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Fort Lauderdale, USA.
Neurology, Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Fort Lauderdale, USA.
Cureus. 2022 Sep 19;14(9):e29335. doi: 10.7759/cureus.29335. eCollection 2022 Sep.
Although acute respiratory infections or diseases such as asthma commonly cause respiratory distress in a pediatric patient, neuromuscular disorders must be considered as a possible etiology in patients with significant hypotonia, neurological deficits, and gross developmental delay. We present a case where a patient's lack of response to initial asthma exacerbation therapy led to a reconsideration of the original diagnosis and adaptation of the management plan. Our patient presented with a rare combination of two congenital disorders that cause hypotonia: Prader-Willi syndrome and Moebius syndrome. This case underlines the importance of considering atypical etiologies in pediatric patients with respiratory distress, while also illustrating the effectiveness of the atypical use of Dornase alfa in a patient with underlying neuromuscular disorders.
虽然急性呼吸道感染或哮喘等疾病通常会导致儿科患者出现呼吸窘迫,但对于有明显肌张力减退、神经功能缺损和严重发育迟缓的患者,必须考虑神经肌肉疾病作为可能的病因。我们报告一例患者,其对初始哮喘加重期治疗无反应,从而促使重新考虑原诊断并调整管理计划。我们的患者表现出两种导致肌张力减退的先天性疾病的罕见组合:普拉德-威利综合征和莫比乌斯综合征。该病例强调了在患有呼吸窘迫的儿科患者中考虑非典型病因的重要性,同时也说明了在患有潜在神经肌肉疾病的患者中非典型使用 Dornase alfa 的有效性。