Síndrome de Laurence-Moon

Synonyms: adipogenital-retinitis pigmentosa syndrome, LM syndrome

Esta é uma condição autossômica recessiva rara.

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

Estes são:³

• Baixa estatura.

• Retinite pigmentosa, nystagmus, choroidal atrophy, catarata e estrabismo.

• Micropenis with hypoplastic scrotum.

• Diabetes mellitus tipo 2.

• Deficiência intelectual geral.

• Speech delay and deficit.

• Ataxia with spastic paraplegia.

• Anomalias renais - eg, clubbing, diverticula or calyceal cysts.

Gestão

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.

• Terapia da fala.

• Renal opinion.

Prognóstico

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

Aspectos históricos

• 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.