Laurence-Moon syndrome (LMS) is characterised by progressive neurological, ophthalmologic and endocrine manifestations leading to severe handicap. The prevalence is unknown. The neurological manifestations include intellectual deficit and ataxia that lead to progressive spastic paraplegia by early adulthood. The ophthalmologic manifestations consist of retinal mottling due to thinning of the retina (retinitis pigmentosa) leading to progressive optic atrophy and finally blindness. Hypogenitalism is present at birth due to hypogonadotrophic hypogonadism. Growth retardation has also been described. The syndrome is transmitted as an autosomal recessive trait and mutations in the BBS5 gene (responsible for Bardet-Biedl syndrome, BBS) and in the MKKS gene (responsible for McKusick-Kaufman syndrome) have been identified in some patients. As a result, LMS is sometimes referred to as Laurence-Moon-Biedl syndrome or Laurence-Moon-Bardet-Biedl syndrome. The differences between BBS and LMS have not been clearly defined. The absence of obesity and the presence of polydactyly in BBS may allow the two diseases to be distinguished but the occurrence of these two manifestations in BBS is variable. LMS, like McKusick-Kaufman syndrome, may therefore be another variant of BBS but, as no genetic tests were conducted on the initial LMS patients, the relationship between these diseases remains unclear. There is no treatment for LMS and management is supportive. |