Recurrent Nasal Polyposis and Bifid Epiglottis in a Child with Bardet–Biedl Syndrome Ciliopathy
Bardet–Biedl syndrome (BBS) is a genetic disease caused by mutations of the BBS genes that encode proteins involved in cilia functioning. It can present with major and/or minor clinical manifestations, such as rod–cone dystrophy, polydactyly, obesity, speech delay, anosmia, congenital heart disease...
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MDPI AG
2024-11-01
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| Series: | Sinusitis |
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| Online Access: | https://www.mdpi.com/2673-351X/8/2/8 |
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| author | Natalia Fourla Nikolaos Drimalas Ioannis Michael Vlastos |
| author_facet | Natalia Fourla Nikolaos Drimalas Ioannis Michael Vlastos |
| author_sort | Natalia Fourla |
| collection | DOAJ |
| description | Bardet–Biedl syndrome (BBS) is a genetic disease caused by mutations of the BBS genes that encode proteins involved in cilia functioning. It can present with major and/or minor clinical manifestations, such as rod–cone dystrophy, polydactyly, obesity, speech delay, anosmia, congenital heart disease and genital and renal abnormalities. Diagnosis of this rare disease is based on clinical criteria and can be confirmed with molecular genetic testing. Although BBS is a ciliopathy, nasal polyposis has never before been reported in patients with this condition. This article presents the case of a 12-year-old male patient admitted with symptoms of retinopathy, development delay, anosmia, bifid epiglottis and recurrent nasal polyposis. After several clinical, imaging and genetic examinations, the patient was diagnosed with BBS. His nasal symptoms were treated with functional endoscopic sinus surgery and long-term antibiotic therapy, whereas courses of topical antibiotics as well as topical and systemic corticosteroids had no effect. As a conclusion, it is a rare case that presents new clinical manifestations (nasal polyps) that can be related to BBS and possible effective treatments. |
| format | Article |
| id | doaj-art-bcd226ccad0e4b60bc84c0546bc98310 |
| institution | OA Journals |
| issn | 2673-351X |
| language | English |
| publishDate | 2024-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Sinusitis |
| spelling | doaj-art-bcd226ccad0e4b60bc84c0546bc983102025-08-20T02:01:14ZengMDPI AGSinusitis2673-351X2024-11-0182636710.3390/sinusitis8020008Recurrent Nasal Polyposis and Bifid Epiglottis in a Child with Bardet–Biedl Syndrome CiliopathyNatalia Fourla0Nikolaos Drimalas1Ioannis Michael Vlastos2Department of ENT, Evangelismos General Hospital, 106 76 Athens, GreeceDepartment of ENT, Evangelismos General Hospital, 106 76 Athens, GreeceDepartment of ENT, Evangelismos General Hospital, 106 76 Athens, GreeceBardet–Biedl syndrome (BBS) is a genetic disease caused by mutations of the BBS genes that encode proteins involved in cilia functioning. It can present with major and/or minor clinical manifestations, such as rod–cone dystrophy, polydactyly, obesity, speech delay, anosmia, congenital heart disease and genital and renal abnormalities. Diagnosis of this rare disease is based on clinical criteria and can be confirmed with molecular genetic testing. Although BBS is a ciliopathy, nasal polyposis has never before been reported in patients with this condition. This article presents the case of a 12-year-old male patient admitted with symptoms of retinopathy, development delay, anosmia, bifid epiglottis and recurrent nasal polyposis. After several clinical, imaging and genetic examinations, the patient was diagnosed with BBS. His nasal symptoms were treated with functional endoscopic sinus surgery and long-term antibiotic therapy, whereas courses of topical antibiotics as well as topical and systemic corticosteroids had no effect. As a conclusion, it is a rare case that presents new clinical manifestations (nasal polyps) that can be related to BBS and possible effective treatments.https://www.mdpi.com/2673-351X/8/2/8Bardet–Biedl syndromeciliopathynasal polypsbifid epiglottis |
| spellingShingle | Natalia Fourla Nikolaos Drimalas Ioannis Michael Vlastos Recurrent Nasal Polyposis and Bifid Epiglottis in a Child with Bardet–Biedl Syndrome Ciliopathy Sinusitis Bardet–Biedl syndrome ciliopathy nasal polyps bifid epiglottis |
| title | Recurrent Nasal Polyposis and Bifid Epiglottis in a Child with Bardet–Biedl Syndrome Ciliopathy |
| title_full | Recurrent Nasal Polyposis and Bifid Epiglottis in a Child with Bardet–Biedl Syndrome Ciliopathy |
| title_fullStr | Recurrent Nasal Polyposis and Bifid Epiglottis in a Child with Bardet–Biedl Syndrome Ciliopathy |
| title_full_unstemmed | Recurrent Nasal Polyposis and Bifid Epiglottis in a Child with Bardet–Biedl Syndrome Ciliopathy |
| title_short | Recurrent Nasal Polyposis and Bifid Epiglottis in a Child with Bardet–Biedl Syndrome Ciliopathy |
| title_sort | recurrent nasal polyposis and bifid epiglottis in a child with bardet biedl syndrome ciliopathy |
| topic | Bardet–Biedl syndrome ciliopathy nasal polyps bifid epiglottis |
| url | https://www.mdpi.com/2673-351X/8/2/8 |
| work_keys_str_mv | AT nataliafourla recurrentnasalpolyposisandbifidepiglottisinachildwithbardetbiedlsyndromeciliopathy AT nikolaosdrimalas recurrentnasalpolyposisandbifidepiglottisinachildwithbardetbiedlsyndromeciliopathy AT ioannismichaelvlastos recurrentnasalpolyposisandbifidepiglottisinachildwithbardetbiedlsyndromeciliopathy |