Pycnodysostose Associated with Stridor: Case Report
Asian Journal of Pediatric Research,
Page 9-12
DOI:
10.9734/ajpr/2022/v8i430249
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.
Keywords:
- Pycnodysostosis
- stridor
- sleep apnea syndrome
How to Cite
References
Puri R, Saxena A, Mittal A, Arshad Z, Dwivedi Y, Chand T, et al. Pycnodysostosis: an anaesthetic approach to this rare genetic disorder. Anesthesiology. 2013;2013:716756
Troen BR. The role of cathepsin K in normal bone resorption. Drug News Perspect. 2004;17:19–28.
Sudarshan R, Vijayabala GS. Pycnodysostosis'a review. SEAJCRR. 2012;1(2):42-5
Abourazzak S, Chaouki S, Akodad Z. Apnées de sommeil et retard statural révélant une pycnodysostose. Arch Pediatr. 2013;20:307–10.
Teissier N, Jacquemont ML, Blancal JP, et al. Severe snoring in a child with pycnodysostosis treated with a bilateral rib graft. Cleft Palate Craniofac J. 2009; 46:93–6.
Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N. Pycnodysostosis with unusual findings: a case report. Case J. 2009;2:6544
Yousefzadeh DK, Agha AS, Reinertson J. Radiographic studies of upper airwayobstruction with cor pulmonale in a patient with pycnodysostosis. Pediatr Radiol. 1979;8:45–7.
Muto T, Yamazaki A, Takeda S, et al. Pharyngeal narrowing as a common feature in pycnodysostosis – a cephalometric study. Int J Oral Maxillofac Surg. 2005;34:680–5.
Nørholt SE, Bjerregaard J, Mosekilde L. Maxillary distraction osteogenesis in a patient with pycnodysostosis: A case report. J Oral Maxillofac Surg. 2004; 62:1037–40.
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