Respiratory sleep disorders in Jeune syndrome: a case description

Abstract

Jeune syndrome (JS) known also as asphyxiating thoracic dystrophy (ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with high neonatal mortality as a consequence of respiratory failure. Significant life-threatening cervical spine abnormalities can be common in Jeune syndrome.

We describe the case of a Sardinian male infant, who developed respiratory distress and feeding difficulties during the first months of life. He underwent clinical evaluation, genetic tests, radiographic examinations and cervical MRI and he was diagnosed with asphyxiating thoracic dystrophy.  In order to treat major respiratory distress a spinal cord decompression treatment was performed.

At the age of 12 months, due to the emergence of sleep breathing disorders, the baby was admitted to our sleep outpatient service in order to assess an eventual sleep apnoea condition in asphyxiating thoracic dystrophy syndrome with severe cervical stenosis.