Jarcho-Levin Syndrome With Fatal Respiratory Failure.

Abstract

Background: First described in 1938, Jarcho-Levin syndrome is a rare genetic disorder characterized by multiple rib and vertebral anomalies that cause thoracic constriction and severe respiratory complications. Jarcho-Levin syndrome is associated with a high mortality rate.

Case report: We report the case of a 3-month-old male who was born with Jarcho-Levin syndrome to first-degree consanguineous parents. The infant presented with severe respiratory distress, scoliosis, thoracic cage deformity, and spinal dysraphism. Radiologic findings revealed multilevel vertebral segmentation defects and asymmetric rib deformities. Despite respiratory support, the infant's condition deteriorated, and he died from respiratory failure complicated by pneumonia at 7 months of age.

Conclusion: This case highlights the life-threatening nature of Jarcho-Levin syndrome and emphasizes the critical role of early diagnosis in optimizing respiratory support and family planning. Genetic counseling is crucial and ideally recommended preconception or during early pregnancy for consanguineous families, although accessibility to counseling services varies widely. Despite advances in pediatric care, the prognosis for patients with Jarcho-Levin syndrome remains guarded, emphasizing the need for continued research into effective treatments and management strategies.