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G371(P) Spondylocostal dysostosis with severe tracheomalacia – a case report

Aims Spondylocostal dysostosis is a very rare autosomal recessive disorder. It affects both genders and it is panethnic. Radiographically, it is defined by multiple vertebral segmentation defects and rib abnormalities, clinically presented by shortening of the neck, short thorax in proportion to trunk, scoliosis. The diagnosis is based on radiographic features and the subtype is defined by molecular genetic testing (one of the genes involved is LFNG). Methods We present an 8 month-old boy that was born at term weighing 2665 g (2nd centile for weight) but dropping to the 0.4th by week 7. He presented with an inguinal hernia, undescended testis, posterior displaced anus and respiratory failure (required respiratory support since birth). He was antenatally diagnosed with skeletal dysplasia, which was confirmed at birth. His parents are consanguineous and he has 4 older healthy and fit siblings aged 5–13 years. Results At 6 days of age the X-ray survey showed spine with hemivertebrae, fusions and butterfly vertebrae. The patient has only 6 ribs bilaterally, with fusions, in-keeping with significant pulmonary hypoplasia. He had normal abdominal and pelvic ultrasounds; his echocardiogram revealed a left to right shunt through small patent ductus arteriosus. At 2 months of age a bronchoscopy revealed absent tracheal cartilage and extensive tracheobronchomalacia. The first indication was that a tracheostomy was impossible. At 5 months the genetic testing identified a homozygous rare missense variant in the LFNG gene. The psychomotor development was normal. Conclusion The main challenge in this case was airway management. Decision for tracheostomy with his grade of tracheomalacia (trachea was oesophagus-like at bronchoscopy) was extremely difficult and with little knowledge on the outcome. At 4 months of age, after numerous interdisciplinary discussions, tracheostomy was performed aiming for corrective surgery on his 2nd birthday. He is currently thriving, and PEEP dependent on continuous non-invasive ventilation (NIV). Due to the rarity of the condition it is uncertain how long he will be NIV dependent, it is hoped that with time both his lung hypoplasia and tracheobroncomalacia will improve enough for him to no longer need NIV.