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患者男,15岁。出生后即被家人发现双侧虹膜为亮蓝色,皮肤白,头发淡黄(图1),至1岁时发现不会讲话且对外界声音刺激无反应。无耳外伤史、中耳炎史、耳毒性药物性接触史。5岁时出现早白发,6～7岁时面部、颈背和四肢等阳光暴露部位逐渐出现大量黄褐色雀斑(图1)。无家族史。15岁就诊时外耳,外耳道,鼓膜正常,双耳极重度感音神经性聋。耳声发射:双侧未通过,声导抗示双侧“A”型图,脑干诱发电位(正常听力级)示双侧103 dB 及40 Hz 相关电位均无诱发波。眼部检查:眼睑、泪点、角膜、前房、晶状体、玻璃
Male patient, 15 years old. After birth, his family found that both sides of the iris were bright blue, white and yellowish hair (Figure 1). When they were 1 year old, they found that they could not speak and did not respond to the sound stimulation of the outside world. No history of ear trauma, history of otitis media, history of ototoxic drug exposure. Early age at 5 years old white hair, 6 to 7 years old face, neck and limbs and other parts of the sun exposed a large number of brown spots gradually appear brown (Figure 1). No family history. 15-year-old treatment when the outer ear, external auditory canal, normal tympanic membrane, ears extremely severe sensorineural deafness. Otoacoustic Emissions: Both sides failed, acoustic conduction showed bilateral “A ” type diagram, brainstem evoked potential (normal hearing level) showed bilateral 103 dB and 40 Hz-related potentials were induced waves. Eye examination: eyelid, punctate, cornea, anterior chamber, lens, glass