Servicio de Oftalmología, Hospital Regional Universitario de Málaga, Málaga, España.
Servicio de Oftalmología, Hospital Regional Universitario de Málaga, Málaga, España.
Arch Soc Esp Oftalmol (Engl Ed). 2021 Jan;96(1):45-47. doi: 10.1016/j.oftal.2020.07.011. Epub 2020 Aug 27.
Haberland syndrome or encephalocutaneous lipomatosis is a very uncommon syndrome that is characterised by changes in the skin, eye, and central nervous system. It was first described in 1970 by Haberland and Perou, with about 60 cases having been reported since then. A case is reported of a 14-week-old male diagnosed with Haberland syndrome with bilateral ocular involvement in the form of palpebral coloboma and choristomas.
哈伯兰综合征或脑皮肤脂肪瘤病是一种非常罕见的综合征,其特征是皮肤、眼睛和中枢神经系统发生变化。它于 1970 年由哈伯兰和佩罗首次描述,此后约有 60 例病例报告。本文报告了一例 14 周龄男性哈伯兰综合征病例,其双侧眼部受累表现为睑裂缺损和虹膜肿物。