Mangali Navya Paulson, Antony Amal, Kumar Nidhi
St. John's Medical College Hospital, Sarjapur Road, Koramangala, Karnataka, 560034, Bengaluru, India.
Pediatr Radiol. 2025 Jan;55(1):195-200. doi: 10.1007/s00247-024-06118-w. Epub 2024 Dec 7.
Johanson-Blizzard syndrome is a rare genetic disorder characterised by various systemic manifestations, including sensorineural hearing loss. We present a unique case of a 3.5-year-old girl with genetically confirmed Johanson-Blizzard syndrome, who exhibited typical features alongside rare radiological findings of cystic dilation of the cochlea and hypoplastic modiolus. This report highlights the need for recognising and evaluating unusual radiological abnormalities associated with this syndrome, particularly in cases of sensorineural hearing loss, to guide appropriate interventions. The identification of cochlear anomalies in this case provides essential information regarding the aetiology of sensorineural hearing loss in Johanson-Blizzard syndrome and highlights the necessity for comprehensive assessment and tailored management strategies to improve auditory rehabilitation and overall outcomes in affected individuals.
约汉森-布莱兹综合征是一种罕见的遗传性疾病，其特征为包括感音神经性听力损失在内的各种全身表现。我们报告了一例独特的病例，一名3.5岁女童经基因确诊为约汉森-布莱兹综合征，她除了具有典型特征外，还出现了罕见的影像学表现，即耳蜗囊性扩张和蜗轴发育不全。本报告强调了识别和评估与该综合征相关的不寻常影像学异常的必要性，尤其是在感音神经性听力损失的病例中，以指导适当的干预措施。该病例中耳蜗异常的识别为约汉森-布莱兹综合征感音神经性听力损失的病因提供了重要信息，并强调了进行全面评估和制定个性化管理策略以改善受影响个体的听觉康复和总体预后的必要性。
