Laurence Moon Syndrome
Incidence
It is a genetic autosomal recessive disorder of unknown etiology. The syndrome is familial and is transmitted as an autosomal recessive trait. It is more frequent in the Arab population of Kuwait.
Clinical Characteristics
The Laurence-Moon syndrome is a genetic autosomal recessive disorder of unknown etiology characterized by progressive neurological, ophthalmologic, and endocrine manifestations resulting in a deteriorating handicapping condition. The neurological manifestations include mental retardation and ataxia which will lead to progressive spastic paraplegia by early adulthood.The ophthalmologic manifestations consist of retinal mottling due to thinning of the retina leading to progressive optic atrophy and finally blindness. Hypogenitalism is present at birth due to hypogonadotrophic hypogonadism.The management is supportive. Laurence-Moon syndrome is more frequent in the Arab population of Kuwait. These patients do not have obesity nor polydactyly.
Precipitants
None.
Provocation Tests
None.
Diagnostic Procedures
It is a clinical diagnosis.