Laurence-Moon syndrome

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 Síndrome de Bardet-Biedl.¹²

Features

These are:³

• Baja estatura.

• Retinitis pigmentosa, nystagmus, choroidal atrophy, catarata y squint.

• Micropenis with hypoplastic scrotum.

• Diabetes mellitus tipo 2.

• Discapacidad intelectual general.

• Speech delay and deficit.

• Ataxia with spastic paraplegia.

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

Manejo

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. Hormona de crecimiento treatment may be useful.

• Terapia del habla.

• Renal opinion.

Pronóstico

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

Historical aspects

• 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.