Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Iran.
Hematology, Oncology and Stem Cell Transplantation Research Center, Tehran University of Medical Sciences, Iran.
Eur J Paediatr Neurol. 2018 Jul;22(4):718-724. doi: 10.1016/j.ejpn.2018.04.005. Epub 2018 Apr 18.
Malignant Infantile Osteopetrosis (MIOP) is a rare inherited disorder with neurological complications, notably visual impairment and decrease of hearing level. Although Hematopoietic Stem Cell Transplantation (HSCT) has been approved as the only curative treatment for these patients, the exact impact of it on visual and hearing level is still unclear.
We analyzed the P2 latency and amplitude from Visual Evoked Potentials (VEP) of 10 patients (20 eyes) and the threshold of wave V from Auditory Brainstem Response (ABR) of 15 patients (30 ears) with MIOP before, 6 and 12 months after HSCT.
Before the HSCT, 10/30 ears demonstrated some degree of hearing loss; while only 3/20 eyes had P2 wave latencies in normal range for age. Using GEE models, it was shown that 12 months after HSCT, wave V threshold of ABR of the patients was significantly lower compared to its value from before the transplant (p value: 0.04). The analysis of latency and amplitude of P2 wave of VEPs showed no significant difference between before and after the transplant.
This study clearly showed that HSCT can improve the hearing level of the patients in terms of ABR threshold. Although HSCT made no significant improvement in latency of P2 in VEP of the patients, it can be concluded that transplant can halt visual regression in these patients. Early diagnosis of MIOP with this objective tools and subsequently early HSCT in these patients can decrease the rate of neurological complications of MIOP and improve the quality of life in them.
婴儿恶性骨硬化症（MIOP）是一种罕见的遗传性疾病，伴有神经并发症，特别是视力障碍和听力水平下降。虽然造血干细胞移植（HSCT）已被批准为这些患者的唯一治愈方法，但它对视觉和听力水平的确切影响尚不清楚。
我们分析了 10 例（20 只眼）MIOP 患者 HSCT 前、后 6 个月和 12 个月的视觉诱发电位（VEP）的 P2 潜伏期和振幅，以及 15 例（30 耳）的听觉脑干反应（ABR）的波 V 阈值。
HSCT 前，30 只耳中有 10 只存在不同程度的听力损失；而只有 20 只眼中的 3 只 P2 波潜伏期在年龄正常范围内。使用广义估计方程模型，结果显示 HSCT 后 12 个月，患者的 ABR 波 V 阈值明显低于移植前（p 值：0.04）。VEP 的 P2 波潜伏期和振幅的分析表明，移植前后无显著差异。
本研究清楚地表明，HSCT 可以改善患者 ABR 阈值的听力水平。尽管 HSCT 对 VEP 中 P2 潜伏期的改善没有显著影响，但可以得出结论，移植可以阻止这些患者的视觉退化。通过这些客观工具早期诊断 MIOP，并随后对这些患者进行早期 HSCT，可以降低 MIOP 的神经并发症发生率，提高他们的生活质量。
