Laurence-Moon-Bardet-Biedl syndrome: a case report

Abstract

Laurence-Moon-Bardet-Beidl syndrome is a rare ciliopathic and pleiotropic human autosomal recessive genetic disorder.1 In 1886, Laurence and Moon explained a case of a 7-year-old female with rod-cone dystrophy, hypogenitalism, mental retardation, obesity, and polydactyly. In 1920, Bardet described a 4-year-old female patient presented with rod-cone dystrophy, obesity, polydactyly (11 toes), and mental retardation.1 Two years after Bardet’s report, Biedl highlighted the complete scenario of clinical signs which includes skull abnormalities, anal atresia, mental deficiency, and gastrointestinal conflicts.1 Since these discoveries, symptoms such as obesity, hypogonadism, retinal pigment defects, psychological hindrance, and polydactylismin in several conditions as combinations, frequently in children with normal parents (cousin marriages) has been termed as Laurence-Moon-Bardet-Biedl syndrome (LMBBS).1 Laurence-Moon-Bardet-Beidl syndrome (LMBBS) is a disorder with phenotypic and genetic heterogeneity.2 The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intel­lectual impairment, hypogonadism (in male) and renal abnormalities. Other clinical features include speech dis­order, brachydactyly, developmental delay, polyuria and polydipsia, ataxia, poor coordination/clumsiness, diabetes mellitus, left ventricular hypertrophy, hepatic fibrosis and renal hypoplasia/dysplasia.2 The most common feature is retinal dystrophy. The retinal appearance is quite vari­able, with typical retinitis pigmentosa being present in only a minority of cases.1 Diagnosis of the condition is important for visual prognosis and low vision manage­ment.2 The patients generally have onset of symptoms within the first 10 years of life and among them the first complaint is usually poor night vision.1 Recent reports suggest that functional and morphological abnormalities are present in up to 90% of affected patients. The renal abnormalities occur with a spectrum of activity, often causing significant morbidity and autopsy data reveals it to be the major cause of mortality.1 The management of Laurence-Moon-Bardet-Biedl syndrome involves a multidisciplinary approach and remains a challenge for clinicians. Here, we report a case of a 7-year-old girl presented with obesity, polydactyly, retinitis pigmentosa, and mental retardation.