J Med Case Rep. 2025 Jul 13;19(1):340. doi: 10.1186/s13256-025-05404-x.
ABSTRACT
BACKGROUND: Duchenne muscular dystrophy represents an inherited X-linked disorder marked by the progressive degeneration and weakening of skeletal muscles, predominantly affecting male individuals.
CASE PRESENTATION: 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.
CONCLUSION: 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.
PMID:40653485 | DOI:10.1186/s13256-025-05404-x
