精神性聋误诊为突发性聋五例

临床上经常可碰到以突发性聋为首发症状的其他疾病，如听神经瘤、前庭导水管扩大、脑梗死、系统性红斑狼疮和白血病等。谷京城等报道1例突发性听力下降为首发症状的精神性聋。我们在临床上遇到5例双耳突发性聋为首发症状的精神性聋，对其临床特点和鉴别诊断进行分析，报道如下。     

Imaging in sensorineural deafness

In this paper, the authors describe, in details, the techniques and the indication of CT scanner and MRI for the evaluation of neurosensory deafness. CT scanner allows to study bony and pneumatized structures of the ear. CT scanner is mostly indicated for the study of congenital deafness, post-trauma deafness and unilateral progressive deafness for which the otoscopy is normal. MRI allows the study of fluid compartments, nerves, vascularization and tissue. MRI will be chosen to evaluate sudden sensory neural deafness and unilateral deafness. However, it is worth to mention that CT scanner and MRI are complementary and that precision of the imaging system as well as a strong collaboration between the otolaryngologist and the radiologist are mandatory.     

Sudden deafness in children

The authors present a report of 38 cases of sudden deafness (SD), observed in the Bambino Gesù Hospital in Rome. Twenty-six cases were due to infective causes, such as mumps, meningitis, measles, varicella or to physical trauma. The other 12 cases were defined as idiopathic (ISD) on the basis of their anamnestic and clinical findings. The etiological, prognostic and therapeutic aspects are discussed.     

小儿Mondini‘s聋106例报告

报告１０６例（１９９耳）Ｍｏｎｄｉｎｉ＇ｓ聋的临床资料。患儿多自幼出现重度耳聋。高分辨颞骨ＣＴ扫描示单纯耳蜗畸形４耳，耳蜗、前庭或半规管畸形９０耳，耳蜗形态正常仅前庭或半规管畸形１０５耳（称前庭型或不典型Ｍｏｎｄｉｎｉ＇ｓ聋）；１９９耳中伴前庭导水管扩大８１耳。并对该病病因、临床表现及防治进行讨论。     

广西壮族135例非综合征性聋常见致病基因的研究

目的分析研究广西地区壮族人群135例非综合征性聋常见致聋基因的突变特点,为防聋治聋工作提供参考。方法采用遗传性耳聋基因芯片试剂盒对广西地区壮族人群135例以及汉族人群44例非综合征性聋患者基因组DNA的4个常见致聋基因的15个突变位点进行检测,比较壮、汉族人群常见耳聋基因突变率的差异性。结果 135例壮族人群非综合征性聋患者常见致聋基因突变率为11.11%(15/135);其中GJB2 235del C纯合突变4例(2.96%),单杂合突变3例(2.22%);GJB2 235del C/109 A>G复合杂合突变2例(1.48%);SLC26A4 IVS7-2 A>G杂合突变1例(0.74%),IVS7-2A>G/IVS11+47T﹥C/1548ins C复合杂合突变2例(1.48%);GJB3 538C>T单杂合突变1例(0.74%),线粒体12S r RNA 1555 A>G异质突变1例(0.74%),GJB2 235 del C杂合突变合并SLC26A4 1226 G>A杂合突变1例(0.74%)。44例汉族非综合征性聋患者常见致聋基因突变率为15.90%(7/44),其中GJB2 235 del C杂合突变3例(6.82%),GJB2 35 del G杂合突变1例(2.27%);SLC26A4 1229C>T纯合突变2例(4.55%),SLC26A4 IVS7-2 A>G杂合突变1例(2.27%)。壮、汉族间耳聋基因突变率比较无统计学意义。结论 GJB2和SLC26A4是广西地区壮族人群非综合征性聋患者最常见的突变基因,GJB2的4个突变位点及SLC26A4的8个突变位点突变率明显低于全国平均水平,其中SLC26A4 IVS11+47T﹥C、1548ins C和GJB2 109 A>G是3个新发现的突变位点。本地区壮汉族之间的耳聋基因突变率无明显的差异性。广西地区壮族人群非综合征性聋患者可能存在罕见的致聋基因或罕见的突变位点,需待进一步研究。