Fierek O, Laskawi R, Bönnemann C, Hanefeld F
Klinik und Poliklinik für Hals-Nasen-Ohrenkrankheiten, Universität Göttingen.
HNO. 2003 Aug;51(8):654-7. doi: 10.1007/s00106-002-0779-5. Epub 2003 Apr 16.
The Levy-Hollister syndrome is characterized by a highly variable expression of dysplasia in different organ systems. Autosomal-dominant inheritance is recognised, but most cases are sporadic. In the field of otorhinolaryngology, xerostomia can be found due to aplasia of the major salivary glands, as well as congenital sensorineural, conductive or combined hearing loss and dysplasia of the auricles, mostly appearing as cup-shaped ears. Here we report on a 2-year-old boy with severe xerostomia. The disease was found to be caused by bilateral aplasia of the parotid and submandibular glands. There were also slight dysplasias of both auricles and a bilateral inner ear malformation as the origin of sensorineural hearing loss. Due to its highly variable expression, Levy-Hollister syndrome is often difficult to distinguish from other diseases and syndromes, so that the cooperation of different departments is necessary for an accurate diagnosis. Because of its dominant inheritance, a genetic consultation should be recommended to the patient. Auricular dysplasia and conductive hearing loss can possibly be treated surgically.
利维-霍利斯特综合征的特征是不同器官系统发育异常的表现高度可变。该病为常染色体显性遗传，但大多数病例为散发性。在耳鼻咽喉科领域，由于主要唾液腺发育不全可出现口干，还可出现先天性感觉神经性、传导性或混合性听力损失以及耳廓发育异常，多数表现为杯状耳。在此，我们报告一名患有严重口干的2岁男孩。发现该病是由双侧腮腺和下颌下腺发育不全引起的。双耳也有轻微发育异常以及双侧内耳畸形，这是感觉神经性听力损失的根源。由于利维-霍利斯特综合征的表现高度可变，它常难以与其他疾病和综合征相区分，因此准确诊断需要不同科室的协作。因其显性遗传，应建议患者进行遗传咨询。耳廓发育异常和传导性听力损失可能可通过手术治疗。
