Schrom T, Habermann A, Scherer H
Klinik für Hals-, Nasen-, Ohrenkrankheiten, Universitätsmedizin Berlin, Charité Campus Mitte, Berlin, Germany.
HNO. 2006 Mar;54(3):202-6. doi: 10.1007/s00106-005-1265-7.
The rare multiple lentigines (LEOPARD) syndrome represents a complex of skin, cardiac, skeletal, inner ear and other malformations. There is marked variability in expression of the syndrome. We report on a 20 year old man, showing typical lentiginosis, a retardation of growth, tachycardiac conduction abnormality, ophthalmologic manifestations and a sensorineural hearing loss. Pathogenesis, clinical and differential diagnostic aspects are discussed in this case report. The early diagnosis of a senosorineural hearing loss is useful in order to provide appropriate rehabilitation. When lentiginosis is diagnosed, it is important to consider further abnormalities such as cardiomyopathy, which can be associated with a high mortality.
罕见的多发性雀斑样痣（LEOPARD）综合征表现为皮肤、心脏、骨骼、内耳及其他部位的畸形组合。该综合征的表现存在显著差异。我们报告了一名20岁男性，其具有典型的雀斑样痣、生长发育迟缓、快速性心律失常传导异常、眼科表现及感音神经性听力损失。本病例报告讨论了其发病机制、临床及鉴别诊断方面。感音神经性听力损失的早期诊断有助于提供适当的康复治疗。当诊断出雀斑样痣时，重要的是要考虑到如心肌病等其他异常情况，其可能与高死亡率相关。
