Saikrishna Pratiksha, Tripathy Saroj Kumar, Medhagopal R G, Das Sarthak, Bharti Bhartendu, Malik Archana
MBBS Student, All India Institute of Medical Sciences, Deoghar, Jharkhand, India.
Department of Pediatrics, All India Institute of Medical Sciences, Deoghar, Jharkhand, India.
J Family Med Prim Care. 2025 May;14(5):2078-2080. doi: 10.4103/jfmpc.jfmpc_1867_24. Epub 2025 May 31.
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.
普拉德-威利综合征（PWS）是一种主要散发起源的遗传疾病，与涉及15号染色体长臂，特别是q11-13区域的染色体异常有关。值得注意的是，位于15q15.3的STRC基因与先天性感音神经性听力损失有关，主要影响耳蜗的内毛细胞，通常导致轻度至中度听力障碍。在我们的病例中，患者表现为单侧重度听力损失，主要累及神经成分——这是文献中以前未记载的独特发现。听力障碍是PWS的固有特征还是仅仅是一种偶然关联仍不清楚。虽然PWS的常规监测通常侧重于生长、视力、睡眠、发育里程碑和内分泌功能，但无症状儿童的听力筛查常常被忽视。该病例强调了对PWS患者听力问题进行进一步研究的必要性。
