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Case Reports
. 2024 Oct-Dec;18(4):562-564.
doi: 10.4103/sja.sja_916_23. Epub 2024 Oct 2.

Pycnodysostosis and severe laryngomalacia complicating general anesthesia: A case report

Plínio O Holanda  1 , Luciana C Morais  1 , Felipe O Marques  1 , Danielle C Soares  1 , Joao M R Neto  1 , Keyth W B Silva  1
Affiliations
Case Reports

Pycnodysostosis and severe laryngomalacia complicating general anesthesia: A case report

Plínio O Holanda et al. Saudi J Anaesth. 2024 Oct-Dec.

Abstract

Pycnodysostosis is a very rare autosomal recessive disease. This disorder presents with osteosclerosis, leading to fragile bones, short stature, craniofacial abnormalities, laryngomalacia, sleep apnea syndrome, and many other findings. Difficulty intubation is very common. In our case, we have a patient scheduled for a plastic surgery on her skull under general anesthesia (GA), but she could not lie in a flat position as this could lead to cyanosis and cardiac arrest. So, we have to intubate her in 45° back-up position. Intubation in positions different from the usual supine one probably because of severe laryngomalacia in this patient is possible but needs skilled anesthesiologists and trained personnel.

Keywords: Bone fractures; cardiac arrest; endotracheal intubation; laryngomalacia; patient positioning; pycnodysostosis.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Patient with pycnodysostosis
Figure 2
Figure 2
Intubation in 45° back-up
See this image and copyright information in PMC

References

    1. LeBlanc S, Savarirayan R. Pycnodysostosis. 2020 Nov 5. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Beanet LJ, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; pp. 1993–2023. [Updated on 2023 Apr 06]
    1. Bizaoui V, Michot C, Baujat G, Amouroux C, Baron S, Capri Y, et al. Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review. Clin Genet. 2019;96:309–16. - PubMed
    1. Kadni RR, L G S, Rao P, Zachariah VK, Pushpavathi P. Contextual anaesthesia for a rare case of pycnodysostosis with myriad presentation: A case report. Ain-Shams J Anesthesiol. 2022;14:69.
    1. Agarwal S, Datana S, Jain D, Roy ID. Management of severe obstructive sleep apnea in pediatric patients with pycnodysostosis: A report of two cases. Indian J Sleep Med. 2022;17:22–31.
    1. Manfredi L, Marlin S, Fauroux B, Garabedian N, Couloigner V, Leboulanger N. European Annals of Otorhinolaryngology, Head and Neck Diseases. Elsevier Masson SAS; 2016. Pycnodysostosis presenting as atypical stridor; pp. 87–90. - PubMed

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