Oxford medical case reports · 2026
Pediatric pycnodysostosis complicated by severe obstructive sleep apnea: a case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Tarik Islam, Makhloufi Farah, Mahraoui Chafiq, El Hafidi Naima
Аннотация
BACKGROUND: 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).
CASE PRESENTATION: 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.
CONCLUSION: 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.
CASE PRESENTATION: 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.
CONCLUSION: 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.