Pulmonary Atelectasis in Pediatric Spinal Muscular Atrophy -- Insights from Two Cases and the Literature
Year: 2025
Type: preprint
Study design: Case Report
Abstract: Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder in which respiratory complications are the primary cause of morbidity and mortality. Among these, pulmonary atelectasis—airway collapse leading to impaired gas exchange—remains underrecognized and often misdiagnosed as pneumonia. We report two pediatric SMA cases complicated by atelectasis, highlighting diagnostic and management challenges. In both children, consolidation on chest X-ray initially suggested infection, but clinical and laboratory findings favored a non-infectious etiology. Subsequent imaging confirmed atelectasis, which responded to intensive non-invasive ventilation, cough assistance, and lung recruitment strategies without the need for antibiotics. A narrative literature review underscores the multifactorial etiology of atelectasis in SMA, involving respiratory muscle weakness, ineffective airway clearance, structural deformities, and recurrent infections. Optimal management emphasizes prevention, early recognition, and individualized ventilatory support. Awareness of this complication is critical to avoid misdiagnosis, prevent unnecessary antibiotic use, and preserve lung function in children with SMA.
Authors: Benedetti Francesca, Flaminia Giarda, Zangardi T, Bressan S, Agosto C
Institution: Azienda Ospedale - Università Padova
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: gold
OpenAlex ID: W4414511368
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