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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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-05-01
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| Series: | Journal of Family Medicine and Primary Care |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/jfmpc.jfmpc_1867_24 |
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| Summary: | 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. |
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| ISSN: | 2249-4863 2278-7135 |