Pycnodysostosis with novel gene mutation and severe obstructive sleep apnoea: management of a complex case.
Pycnodysostosis is a rare genetic disease. Impaired osteoclastic function is the basis for typical phenotypic features and bone fragility. The main differential diagnosis is osteopetrosis, also associated with altered bone remodelling, but with a more severe prognosis. We describe the case of an 8-year-old boy who presented life-threatening obstructive sleep apnoea successfully managed with non-invasive ventilation. Haematological overlap phenotype included anaemia and altered bone marrow, more common in osteopetrosis. Molecular analysis of the CTSK gene revealed a mutation not previously described in the literature.
Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar de Lisboa Norte, Lisboa, Portugal.
Inês
I
Girbal
Teresa
T
Nunes
Ana
A
Medeira
Teresa
T
Bandeira
D056657:Cathepsin K / Q000235:genetics; D002648:Child; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications; D006801:Humans; D008297:Male; D009154:Mutation; D063087:Noninvasive Ventilation; D058631:Pycnodysostosis / Q000150:complications / Q000235:genetics / Q000628:therapy*; D012720:Severity of Illness Index; D020181:Sleep Apnea, Obstructive / Q000209:etiology / Q000628:therapy*
C534130:CTSK protein, human; D056657:Cathepsin K