Jarcho–Levin syndrome: A rare case of thoracic insufficiency syndrome in a newborn

Abstract

Background: Jarcho–Levin syndrome (JLS) is a rare, congenital skeletal disorder involving the spine and the ribs, resulting in varying degrees of thoracic insufficiency, presenting at birth. We report such a case in a tribal population in India. Clinical Description: A newborn baby was referred on the 2nd day of life with respiratory distress and abnormal thoracic anatomy. Radiographs of the chest showed anomalies of the spine and ribs and decreased lung volume, the features being consistent with JLS (spondylocostal dysostosis). Management: The baby was provided respiratory support initially with continuous positive airway pressure and then shifted to oxygen by nasal prongs by 7 days of life. Ultrasound cranium and abdomen did not reveal any other associated anomalies and routine blood investigations were within normal limits. Respiratory distress settled and the baby was finally discharged successfully on the 12th day, on breastfeeds. Conclusion: Respiratory distress in a newborn, soon after birth, may be due to thoracic insufficiency. The case creates awareness among pediatricians and neonatologists regarding this rare disorder which can be identified by specific vertebral and rib abnormalities. Survival depends on the severity of the bony abnormality and compromise in lung volume.

Keywords

• respiratory distress
• spondylocostal dysostosis
• scoliosis