Syndrome de Laurence-Moon

Synonyms: adipogenital-retinitis pigmentosa syndrome, LM syndrome

This is a rare autosomal recessive condition.

Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered valid terms, because the patients of Laurence and Moon had paraplegia, but no polydactyly or obesity, which are the main characteristics of Syndrome de Bardet-Biedl.¹²

Features

Ceux-ci sont :³

• Petite taille.

• Rétinite pigmentaire, nystagmus, choroidal atrophy, une chirurgie de la cataracte et squint.

• Micropenis with hypoplastic scrotum.

• Diabète de type 2.

• Déficience intellectuelle générale.

• Speech delay and deficit.

• Ataxia with spastic paraplegia.

• Renal anomalies - eg, clubbing, diverticula or calyceal cysts.

There are no treatments specific to this syndrome. Management of the features outlined above is multidisciplinary:

• Ophthalmic support for worsening vision.

• Endocrinology advice regarding short stature and hypogonadism. Growth hormone treatment may be useful.

• Speech therapy.

• Renal opinion.

Life expectancy is lower than that of the general population. Renal disease is a common primary or contributing cause of death.

• John Zachariah Laurence (1829-1870) was a British ophthalmologist. He was a founder of the South London Ophthalmic Hospital, later known as the Royal Eye Hospital.

• Robert Charles Moon (1844-1914) was born in Brighton and qualified in London. He emigrated to the USA in 1879, having been a surgeon at the South London Ophthalmic Hospital. He worked in Philadelphia.

• Arthur Biedl (1869-1933) was an endocrinologist born in Hungary. However, he qualified in Vienna and later became professor at the Institute of Pathology in Vienna.

• Georges Louis Bardet was a French physician born 1885. Very little is known about him, not even his date of death.