Megighian David, Savastano Marina
Dipartimento di Specialità Medico-Chirurgiche, Sezione ORL, Padua University, Via Giustiniani 2, 35128, Padua, Italy.
Int J Pediatr Otorhinolaryngol. 2004 Feb;68(2):243-7. doi: 10.1016/j.ijporl.2003.10.012.
The Wolfram syndrome is a rare dysmorphogenetic disease of autosomic recessive hereditary nature. The pathogenesis of the disease is still not well known. It is characterised by the presence of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Other anomalies, such as renal outflow tracts and multiple neurological disorders may develop later. In our case report the diabetes mellitus appeared at the age of 4; the hearing loss and renal disturbances at the age of 11; the optic atrophy at the age of 16. No signs of ataxia, diabetes insipidus and neurologic anomalies were found. The diagnosis of Wolfram syndrome is not always easy in the first stages of the disease. The suspect may come from the presence of a juvenile diabetes mellitus asssociated with optic atrophy. For the diagnosis a valid clue can be given from the results of some clinical tests such as the positivity of the visual evoked potentials and the retinogram reliefs and the exclusion of the autoimmune origin of the diabetes mellitus. Other signs such as the progressive sensorineural hearing loss, the presence of nystagmus and of urodynamic disturbances and renal complications makes the diagnosis of this syndrome easier.
沃夫勒姆综合征是一种罕见的具有常染色体隐性遗传性质的畸形发生疾病。该疾病的发病机制仍不清楚。其特征为尿崩症、糖尿病、视神经萎缩和耳聋。其他异常情况，如肾流出道异常和多种神经系统疾病可能在后期出现。在我们的病例报告中，糖尿病在4岁时出现；听力丧失和肾脏问题在11岁时出现；视神经萎缩在16岁时出现。未发现共济失调、尿崩症和神经异常的迹象。在疾病的最初阶段，沃夫勒姆综合征的诊断并不总是容易的。怀疑可能源于青少年糖尿病合并视神经萎缩。对于诊断，一些临床检查结果可提供有效线索，如视觉诱发电位阳性、视网膜电图改变以及排除糖尿病的自身免疫性起源。其他体征，如进行性感音神经性听力丧失、眼球震颤的存在、尿动力学紊乱和肾脏并发症，使该综合征的诊断更容易。
