Respiratory failure in spinal muscular atrophy: A case report and review of literature

Abstract

Spinal muscular atrophy (SMA) type 2 is a neuromuscular disorder of childhood with high morbidity and mortality caused by the deletion of SMN1 gene (gene 1 of motor neuron survival), located at chromosome 5. It is the respiratory complications that account for the majority of deaths in SMA. This report describes an 18-year-old male patient diagnosed with SMA type 2, who had shortness of breath for 2 weeks and cough for 1 week. CT-Thorax revealed left lung collapse due to mucoid impaction in the left main bronchus. Bronchoscopy was challenging in this case due to severe kyphoscoliosis, and impacted mucus was extracted using bronchoscopy-guided forceps biopsy. Repeat X-ray of the chest following treatment showed no evidence of collapse, and patient was discharged in a stable condition with mucolytics and antibiotics.

Keywords

• autosomal recessive condition
• bronchoscopic extraction
• mucoid impaction
• respiratory failure
• spinal muscular atrophy