先天性感音神经性耳聋伴脑白质病变患儿临床及影像学分析

Clinical and imaging analysis of white matter lesions combined with congenital sensorineural hearing loss inchildren

目的分析先天性感音神经性耳聋伴脑白质病变患儿头颅影像学及临床特点，以期为临床提供参考。方法收集2011年11月至2015年12月转诊于北京大学第一医院儿科78例先天性感音神经性耳聋伴脑白质病变患儿的病案资料，分析总结其临床及影像学特点。结果78例患儿均双侧重度一极重度听力损失，48．1％（25／52例）的患儿大运动发育落后，98．1％（51／52例）的患儿认知发育正常。100％（61／61例）的患儿语言发育异常。母孕期有感染史的患儿占21．2％（11／52例），早产儿、足月小于胎龄儿占28．9％（15／52例）。头颅磁共振（MRI）可见双侧多发白质病灶，边界清晰，点片状T1加权像低信号及T2加权像、液体衰减反转恢复高信号。82．1％（64／78例）的患儿侧脑室周围及皮质下白质均受累，侧脑室周围白质以后角最易受累，占91．9％（68／74例），其次为前角及颞角，最不易累及体部，前三者常出现联合病变（55．4％～68．9％）。皮质下顶、额、颞、枕叶白质均易受累（73．5％～88．2％），多脑叶联合受累常见（67．6％～77．9％）。37．2％（29／78例）的患儿双侧侧脑室扩大，9．O％（7／78例）的患儿可见前颞叶皮质下白质囊性改变，2例头颅CT中可见钙化。所有患儿胼胝体、基底核未见异常。25例采集2次及2次以上MRI患儿中，96．0％（24／25例）脑白质病灶静止或好转。结论伴脑白质病变的先天性感音神经性耳聋儿童临床症状轻微，与多发的脑白质病灶并不平行，考虑髓鞘化不良或延迟。因为其脑白质病灶呈良性经过，所以伴脑白质病变不是人工耳蜗植入的禁忌证。

Objective To analyze the clinical and imaging characteristics of congenital sensorineural hearing loss （CSNHL） children combined with white matter （WM） lesions in order to provide evidence for clinical practice. Methods With referral to the Department of Pediatrics, Peking University First Hospital from November 2011 to De- cember 2015 ,documents of 78 patients of CSNHL combined with WM lesions were collected and analyzed for the clini- cal and imaging characteristics. Results Bilateral severe -profound hearing loss existed in all 78 cases ,48.1% （25/ 52 cases） of the patients exhibited gross motor development delay,98.1% （51/52 cases）of them had normal cognition development. One hundred percent （61/61 cases） of patients had abnormal language development. Infection occurring during pregnancy existed in 21.2% （ 11/52 cases） of the patients, the premature and smaller for the gestational age in- fants accounted for 28.9% （15/52 cases）. The bilateral multiple WM lesions from the brain MRI were in dot to flake sizes with sharp boundary, the intensity of T1 - weighted imaging decreased, T2 - weighted imaging and fluid attenuated inversion recovery increased. Eighty - two point one percent （64/78 cases ） of the patients were found to have the periventricular and subcortical WM involvement. The most frequently affected periventricular region was the posterior horn （91.9% ,68/74 cases） , followed by the anterior horn and temporal born, and the least with the body involvement. The former three had a combined lesion tendency （55.4% -68.9% ）. There was an extensive involvement in the sub- cortical WM of parietal, frontal, temporal and occipital lobes respectively （73.5 % - 88.2% ）. Subcortical WM involve- ment of multiple lobes was common （ accounted for 67.6% - 77.9% ）. The enlargement of bilateral ventricles existed in 37.2% （29/78 cases） of the patients and cystic changes in the subeortical WM of anterior temporal lobe could be found in 9.0% （7/78 eases） patients. Calcification in 2 CT cases was reported. Corpus callosum and basal ganglia of all cases were normal. For cases with MRI scans more than once, WM lesions of 96.0% （24/25 cases） patients became silent or self - restored. Conclusions The clinical presentations of CSNHL combined with WM lesions are mild, not paralleled with their muhiple foci. It is considered as demyelination or a delay of myelination. Due to its benign course, it is probably not the contraindication for the cochlear implantation.