Bilateral choanal atresia in an adult woman with pycnodysostosis

Durmaz, Ceren Damla; Taş, Vedat; Kocaay, Pınar; Fitoz, Ömer Suat; Önay, Hüseyin; Beton, Süha; Özkınay, Ferda; Ruhi, Hatice Ilgın

doi:10.1111/cga.12204

Cited by 7 publications

(7 citation statements)

References 6 publications

(6 reference statements)

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“…[7][8][9][10] Stridor or laryngomalacia 11 are not rare manifestations of the disease, and can even lead to an early suspicion of pycnodysostosis. Choanal atresia has been described in pycnodysostosis, 12 but none of our patients presented with such severe upper airways abnormalities.…”

Section: Discussionmentioning

confidence: 67%

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

et al. 2019

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Pycnodysostosis is a lysosomal autosomal recessive skeletal dysplasia characterized by osteosclerosis, short stature, acro‐osteolysis, facial features and an increased risk of fractures. The clinical heterogeneity of the disease and its rarity make it difficult to provide patients an accurate prognosis, as well as appropriate care and follow‐up. French physicians from the OSCAR network have been asked to fill out questionnaires collecting molecular and clinical data for 27 patients issued from 17 unrelated families. All patients showed short stature (mean = −3.5 SD) which was more severe in females (P = .006). The mean fracture rate was moderate (0.21 per year), with four fractures in total average. About 75% underwent at least one surgery, with an average number of 2.1 interventions per patient. About 50% required non‐invasive assisted ventilation due to sleep apnea (67%). About 29% showed psychomotor difficulties and 33% needed a school assistant or adapted schooling. No patient had any psychological evaluation or follow‐up. Molecular data were available for 14 families. Growth hormone administration was efficient on linear growth in 40% of cases. We propose several axis of management, such as systematic cerebral MRI for Chiari malformation screening at diagnosis and regular psychological follow‐up.

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Section: Discussionmentioning

confidence: 67%

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

et al. 2019

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“…There are only 11 adult BCA cases in the literature [1][2][3][4][5][6][7][8][9][10][11]. Cases and their characteristics are presented in Table 1.…”

Section: Discussionmentioning

confidence: 99%

“…The additional anomaly rate was seen to be much lower in adult choanal atresia cases in the literature. Only one patient was reported to have telecanthus [ 2 ], while one patient had hypogammaglobulinemia [ 5 ] and one patient had pycnodysostosis [ 6 ]. No additional anomaly was found in the other eight patients and our case.…”

Section: Discussionmentioning

confidence: 99%

“…7.5 ET for seven days -Aksoy et al [8] 200923-year old female None No TE Topical Mitomycin-C -Tinoco et al [7] (2010) 34-year old female None No TE None -Chaudhary et al [11] (2010) female None No TE Unspecified -Tatar et al [1] (2012) 53-year old female None No TE No. 6 ET for six weeks -Bakır et al [10] (2014) 21-year old male None No TE No.18 NC for three weeks -Verma et al [9] (2016) 20-year old female None No TE None -Anajar et al [4] 201718-year old male None No TE None -Durmaz et al [6] Table 1. Reported cases of bilateral choanal atresia in adults underwent transpalatal procedures because the small nasal cavity precludes the use of endoscopes and instruments.…”

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confidence: 99%

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Bilateral choanal atresia in a 60-year-old man: A case report and review of the literature

Mengi¹

2020

North Clin Istanbul

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Choanal atresia is a congenital condition referring to the blockage of the posterior nasal cavity. As bilateral choanal atresia causes complete nasal congestion, it usually results in death due to asphyxia in the newborn if no emergency intervention is performed. Therefore, it is very rare to see a patient with bilateral choanal atresia who has reached an advanced age. There are only 11 adult cases reported in the recent literature. Here we report a case of a 60-year-old man diagnosed with bilateral choanal atresia and we discuss the clinical presentation and treatment modalities with a review of the literature.

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“…The majority of CA cases are found in infants [2] , where as adults case is very rare [3] , [4] . New CA cases found in adults are related to socioeconomic factors in the family which are often found in low resource settings [3] , [4] , [5] . The transnasal endoscopic neochoanal technique is an effective technique for the management of CA cases [6] , [7] .…”

Section: Introductionmentioning

confidence: 99%

Transnasal endoscopic neochoanal technique: An effective procedure for bilateral choanal atresia in adult female

Sutikno

Thaufiqurrakhman

2021

International Journal of Surgery Case Reports

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Background Surgery on bilateral choanal atresia surgery is challenging and this case is rare in adults. In addition, stenosis issue postoperatively is commonly seen. Case presentation Transnasal endoscopic neochoanal technique was performed on a 27 years old female with the detailed surgical procedure was described. Neither stent nor nasal tamponade was applied. Ten months follow-up revealed a patent-wide neochonae. Discussion Transnasal endoscopic neochoanal technique without stent and nasal tamponade can be considered the procedure of choice in the management of CA cases. Conclusions Transnasal endoscopic neochoanal technique is considered an effective surgical procedure on bilateral choanal atresia.

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Bilateral choanal atresia in an adult woman with pycnodysostosis

Cited by 7 publications

References 6 publications

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

Bilateral choanal atresia in a 60-year-old man: A case report and review of the literature

Transnasal endoscopic neochoanal technique: An effective procedure for bilateral choanal atresia in adult female

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