Motegi Masaomi, Sakurai Yuika, Mio Yasushi, Ohashi Toya
Department of Otolaryngology-Head and Neck Surgery, Gunma University Graduate School of Medicine, Maebashi, JPN.
Department of Otorhinolaryngology, The Jikei University School of Medicine, Minato, JPN.
Cureus. 2024 Aug 25;16(8):e67760. doi: 10.7759/cureus.67760. eCollection 2024 Aug.
Biallelic missense mutations in the nuclear-encoded, cytosolic isoleucyl-tRNA synthetase (IARS) gene are associated with a rare and complex multisystemic phenotype, including growth retardation, intellectual disability, muscular hypotonia, diabetes mellitus, and deafness. These mutations impact the cytosolic isoform of IARS, which plays a crucial role in protein synthesis. The pathogenesis involves mitochondrial dysfunction, despite IARS being primarily a cytosolic enzyme, potentially linking it to the observed clinical manifestations. The efficacy of cochlear implantation for deafness due to IARS mutations and the safety of general anesthesia in such patients remain unclear. This report describes a rare case of progressive sensorineural hearing loss caused by IARS mutation-associated mitochondrial disease, which was successfully treated with cochlear implantation. Additionally, we discuss the safety of general anesthesia in this patient. A Japanese woman with IARS mutation-associated mitochondrial disease was diagnosed with severe bilateral sensorineural hearing loss at five years of age and immediately received hearing aids. Her hearing progressively deteriorated to profound impairment, necessitating cochlear implantation at 26 years of age, which resulted in satisfactory hearing. Furthermore, no perioperative general anesthesia-related adverse events were reported. Our case demonstrates that cochlear implantation can effectively restore hearing. This suggests that sensorineural hearing loss caused by IARS deficiency is primarily due to cochlear dysfunction. This case demonstrated that hearing loss is a crucial feature of IARS mutation-associated mitochondrial disease, which can be mitigated by cochlear implantation. While general anesthesia can be safely administered, careful consideration of anesthetic choices, such as avoiding depolarizing muscle relaxants and prolonged use of propofol, is essential to prevent complications. In this case, general anesthesia was well tolerated without perioperative events, providing valuable insight into the potential safety of such procedures in similar patients. Nevertheless, further studies are needed to confirm these findings across a broader population.
核编码的胞质异亮氨酰 - tRNA合成酶（IARS）基因的双等位基因错义突变与一种罕见且复杂的多系统表型相关，包括生长发育迟缓、智力障碍、肌张力减退、糖尿病和耳聋。这些突变影响IARS的胞质异构体，其在蛋白质合成中起关键作用。尽管IARS主要是一种胞质酶，但其发病机制涉及线粒体功能障碍，这可能将其与观察到的临床表现联系起来。IARS突变导致的耳聋患者进行人工耳蜗植入的疗效以及此类患者全身麻醉的安全性仍不清楚。本报告描述了一例由IARS突变相关线粒体疾病引起的进行性感音神经性听力损失的罕见病例，该病例通过人工耳蜗植入成功治疗。此外，我们讨论了该患者全身麻醉的安全性。一名患有IARS突变相关线粒体疾病的日本女性在5岁时被诊断为严重双侧感音神经性听力损失，并立即佩戴了助听器。她的听力逐渐恶化至重度受损，26岁时需要进行人工耳蜗植入，结果听力令人满意。此外，未报告围手术期全身麻醉相关不良事件。我们的病例表明人工耳蜗植入可以有效恢复听力。这表明IARS缺乏导致的感音神经性听力损失主要是由于耳蜗功能障碍。该病例表明听力损失是IARS突变相关线粒体疾病的一个关键特征，可通过人工耳蜗植入减轻。虽然全身麻醉可以安全实施，但仔细考虑麻醉选择，如避免使用去极化肌松剂和长时间使用丙泊酚，对于预防并发症至关重要。在该病例中，全身麻醉耐受性良好，无围手术期事件，为类似患者此类手术的潜在安全性提供了有价值的见解。然而，需要进一步研究以在更广泛的人群中证实这些发现。
