Qadar Laila Tul, Ahmed Zohaib M, Munawar Maham, Hasan Choudhary A, Iqbal Syed Umair
Internal Medicine, Dow University of Health Sciences (DUHS), Karachi, PAK.
Cureus. 2019 Jun 11;11(6):e4885. doi: 10.7759/cureus.4885.
Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive (AR) disorder. It is characterized predominantly by hypogonadism, polydactyly, retinitis pigmentosa, obesity, and mental retardation. Herein, we present a classic case of LMBBS with generalized body edema, abdominal distension, and positive fluid thrill in a 32-year-old male. LMBBS patients are friendly with a happy predisposition, proper management, and regular examinations should be done in order to maintain healthy organ function and to avoid an early death. Renal failure is the most common cause of mortality in LMBBS patients.
劳伦斯-穆恩-巴德-比德尔综合征（LMBBS）是一种罕见的常染色体隐性（AR）疾病。其主要特征为性腺功能减退、多指（趾）畸形、色素性视网膜炎、肥胖和智力迟钝。在此，我们报告一例32岁男性的经典LMBBS病例，该患者出现全身性水肿、腹胀及液波震颤阳性。LMBBS患者性格友善，易有愉悦的倾向，应进行适当管理并定期检查，以维持器官功能健康并避免过早死亡。肾衰竭是LMBBS患者最常见的死亡原因。
