Al-Shami Khayry, Haddad Ziad, Mohammad Yousef Abuelrub Malath, Adnan Adel Qaddoumi Basel, Qudah Falah, Faour Hala, Khalil Marah, Karaja Saja
Department of Clinical Medical Sciences, Faculty of Medicine, Yarmouk University, Irbid, Jordan.
Faculty of Medicine, Homs University, Homs, Syria.
J Med Case Rep. 2025 Jul 13;19(1):340. doi: 10.1186/s13256-025-05404-x.
Duchenne muscular dystrophy represents an inherited X-linked disorder marked by the progressive degeneration and weakening of skeletal muscles, predominantly affecting male individuals.
This case report delineates the hospitalization of a 13-year-old Jordanian female patient with Duchenne muscular dystrophy in the pediatric intensive care unit following an episode of acute respiratory distress and hyporesponsiveness, characterized by a decline in pulmonary ventilation due to severe respiratory compromise, necessitating intensive care management. The clinical presentation included symptoms of fever, productive cough, abdominal pain, and feeding difficulties leading to concerns of aspiration. Notably, the patient exhibited elevated creatine phosphokinase levels, indicative of potential muscle injury, alongside a confirmed mutation in the dystrophin gene. Subsequently, a comprehensive respiratory therapy regimen was initiated, incorporating nebulization, chest physiotherapy, and oxygen supplementation, resulting in the stabilization of oxygen saturation levels.
This case report highlights a rare presentation of acute respiratory distress in a female patient with Duchenne muscular dystrophy, an underreported occurrence in clinical literature. It underscores the necessity of a multidisciplinary approach, integrating respiratory, neuromuscular, and nutritional management tailored to atypical presentations. By documenting sex-specific differences in disease progression and emphasizing individualized care strategies, this report contributes to the understanding of cases of female patients with Duchenne muscular dystrophy. It advocates for interdisciplinary collaboration and ongoing assessments to optimize long-term outcomes, reinforcing the importance of personalized interventions in neuromuscular disorders.
杜氏肌营养不良症是一种遗传性X连锁疾病，其特征是骨骼肌进行性退化和减弱，主要影响男性个体。
本病例报告描述了一名13岁约旦女性杜氏肌营养不良症患者，在经历急性呼吸窘迫和反应迟钝发作后，入住儿科重症监护病房。其特征为严重呼吸功能不全导致肺通气下降，需要重症监护管理。临床表现包括发热、咳痰、腹痛和喂养困难，引发了误吸担忧。值得注意的是，患者肌酸磷酸激酶水平升高，表明可能存在肌肉损伤，同时肌营养不良蛋白基因检测到确诊突变。随后，启动了全面的呼吸治疗方案，包括雾化、胸部物理治疗和吸氧，使血氧饱和度水平稳定。
本病例报告强调了杜氏肌营养不良症女性患者急性呼吸窘迫的罕见表现，这在临床文献中报道较少。它强调了多学科方法的必要性，整合针对非典型表现的呼吸、神经肌肉和营养管理。通过记录疾病进展中的性别差异并强调个性化护理策略，本报告有助于理解杜氏肌营养不良症女性患者的病例。它提倡跨学科合作和持续评估以优化长期结果，强化了个性化干预在神经肌肉疾病中的重要性。
