Pycnodysostose Associated with Stridor: Case Report

Abstract

Pycnodysostosis is a rare genetic disease, caused by a mutation of the cathepsin K gene which is involved in bone renewal. It is associated with dwarfism and bone fragility, but the association with a stridor is exceptional. We report the case of a child treated for stridor with sleep apnea syndrome confirmed by sleep recording. His clinical examination showed stridor with laryngomalacia, the characteristic dysmorphism of pycnodysostosis and failure to thrive. The patient was put under non-invasive ventilation during evenings, and underwent ablation of adenoids, which resulted in a stable blood oxygen saturation. A surgery to lengthen the patient’s mandibular is being considered, depending on her evolution. Practitioners should overlook this rare disease when faced with atypical stridor associated with high obstruction, failure to thrive and dysmorphism.