Sensorineural deafness in a child with Prader–Willi Syndrome—A rare case report
Prader–Willi syndrome (PWS) is a genetic condition, predominantly of sporadic origin, associated with chromosomal abnormalities involving the long arm of chromosome 15, specifically the q11–13 region. Of note, the STRC gene, located on chromosome 15q15.3, is implicated in congenital sensorineural he...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-05-01
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| Series: | Journal of Family Medicine and Primary Care |
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| Online Access: | https://journals.lww.com/10.4103/jfmpc.jfmpc_1867_24 |
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| author | Pratiksha Saikrishna Saroj Kumar Tripathy RG Medhagopal Sarthak Das Bhartendu Bharti Archana Malik |
| author_facet | Pratiksha Saikrishna Saroj Kumar Tripathy RG Medhagopal Sarthak Das Bhartendu Bharti Archana Malik |
| author_sort | Pratiksha Saikrishna |
| collection | DOAJ |
| description | Prader–Willi syndrome (PWS) is a genetic condition, predominantly of sporadic origin, associated with chromosomal abnormalities involving the long arm of chromosome 15, specifically the q11–13 region. Of note, the STRC gene, located on chromosome 15q15.3, is implicated in congenital sensorineural hearing loss, primarily affecting the inner hair cells of the cochlea, and typically results in mild to moderate hearing impairment. In our case, the patient presented with unilateral profound hearing loss, predominantly involving the neural component—a unique finding not previously documented in the literature. Whether hearing impairments are an intrinsic feature of PWS or merely a coincidental association remains unclear. While routine monitoring in PWS typically focuses on growth, vision, sleep, developmental milestones, and endocrine function, auditory screening in asymptomatic children is often overlooked. This case underscores the need for further investigation into hearing issues in individuals with PWS. |
| format | Article |
| id | doaj-art-43775abe82e341d09fbb6ca56c0aec5e |
| institution | OA Journals |
| issn | 2249-4863 2278-7135 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Family Medicine and Primary Care |
| spelling | doaj-art-43775abe82e341d09fbb6ca56c0aec5e2025-08-20T02:02:55ZengWolters Kluwer Medknow PublicationsJournal of Family Medicine and Primary Care2249-48632278-71352025-05-011452078208010.4103/jfmpc.jfmpc_1867_24Sensorineural deafness in a child with Prader–Willi Syndrome—A rare case reportPratiksha SaikrishnaSaroj Kumar TripathyRG MedhagopalSarthak DasBhartendu BhartiArchana MalikPrader–Willi syndrome (PWS) is a genetic condition, predominantly of sporadic origin, associated with chromosomal abnormalities involving the long arm of chromosome 15, specifically the q11–13 region. Of note, the STRC gene, located on chromosome 15q15.3, is implicated in congenital sensorineural hearing loss, primarily affecting the inner hair cells of the cochlea, and typically results in mild to moderate hearing impairment. In our case, the patient presented with unilateral profound hearing loss, predominantly involving the neural component—a unique finding not previously documented in the literature. Whether hearing impairments are an intrinsic feature of PWS or merely a coincidental association remains unclear. While routine monitoring in PWS typically focuses on growth, vision, sleep, developmental milestones, and endocrine function, auditory screening in asymptomatic children is often overlooked. This case underscores the need for further investigation into hearing issues in individuals with PWS.https://journals.lww.com/10.4103/jfmpc.jfmpc_1867_24childhood obesityprader–willi syndrome (pws)retrocochlear pathologysensorineural hearing lossstrc gene |
| spellingShingle | Pratiksha Saikrishna Saroj Kumar Tripathy RG Medhagopal Sarthak Das Bhartendu Bharti Archana Malik Sensorineural deafness in a child with Prader–Willi Syndrome—A rare case report Journal of Family Medicine and Primary Care childhood obesity prader–willi syndrome (pws) retrocochlear pathology sensorineural hearing loss strc gene |
| title | Sensorineural deafness in a child with Prader–Willi Syndrome—A rare case report |
| title_full | Sensorineural deafness in a child with Prader–Willi Syndrome—A rare case report |
| title_fullStr | Sensorineural deafness in a child with Prader–Willi Syndrome—A rare case report |
| title_full_unstemmed | Sensorineural deafness in a child with Prader–Willi Syndrome—A rare case report |
| title_short | Sensorineural deafness in a child with Prader–Willi Syndrome—A rare case report |
| title_sort | sensorineural deafness in a child with prader willi syndrome a rare case report |
| topic | childhood obesity prader–willi syndrome (pws) retrocochlear pathology sensorineural hearing loss strc gene |
| url | https://journals.lww.com/10.4103/jfmpc.jfmpc_1867_24 |
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