EP.122Recurrent pneumothorax in an adult case of Ullrich congenital muscular dystrophy – case report and review of literature

Abstract

Collagen VI related muscular dystrophy is caused by dominant or recessive mutations in the COL6A1, COL6A2 or COL6A3 genes and comprises of a spectrum of rare neuromuscular disorders including the early-onset and more severe Ulrich congenital muscular dystrophy, the milder adult form of Bethlem myopathy and an intermediate phenotype. They are characterised clinically by progressive muscle weakness, distal hyperlaxity, joint contractures and respiratory insufficiency. Respiratory failure develops with progression of the condition and is caused by respiratory muscle (diaphragm and intercostal) weakness as well as spinal and thoracic deformities. Intrinsic lung disease is not common, but pneumothorax, occurring as a single event or as recurrent episodes is being increasingly recognised in these patients. Our patient is a 22 year old female with Ulrich congenital muscular dystrophy caused by heterozygous mutation in exon 9 of COL6A1 gene. She was known to have a restrictive lung defect with scoliosis since childhood. Nocturnal ventilatory support was initiated at the age of 18 following a sleep study showing evidence of hypoventilation. She developed a spontaneous left sided pneumothorax at 21 years old, requiring intercostal drain (ICD) insertion followed by chemical pleurodesis via ICD. A contralateral spontaneous pneumothorax occurred 8 months later, which was complicated by PEA arrest requiring intubation and ventilation; followed by a protracted recovery period. This case is being presented to increase the awareness of a potentially life threatening complication associated with this condition. A first presentation of spontaneous pneumothorax in these patients should lead to careful assessment of lung parenchymal changes and consideration of definitive pre-emptive contralateral intervention.