Pediatric pycnodysostosis complicated by severe obstructive sleep apnea: a case report

Pycnodysostosis is a rare genetic bone disorder linked to mutations in the CTSK gene, which causes osteoclast dysfunction. We report the case of a child with pycnodysostosis complicated by severe obstructive sleep apnea syndrome (OSAS).

The patient was a 9-years-old girl born to consanguineous parents. Clinical examination revealed short stature, characteristic facial features, acromicria, and several skeletal abnormalities. X-rays revealed diffuse osteosclerosis associated with bone abnormalities characteristic of pycnodysostosis. Polysomnography confirmed severe OSA, with an apnea-hypopnea index (AHI) of 49.8 events per hour.

This observation highlights the association between pycnodysostosis and nocturnal respiratory impairment, and underscores the importance of systematic screening for sleep-disordered breathing by polysomnography in these patients. Management is based on a multidisciplinary approach and long-term follow-up in order to optimize the functional prognosis and quality of life of patients and their families.