Laurence-Moon syndrome

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 Bardet-Biedl syndrome.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.

• 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.

• Terapia da fala.

• 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.