Laurence-Moon-Syndrom

Synonyms: adipogenital-retinitis pigmentosa syndrome, LM syndrome

Dies ist eine seltene autosomal-rezessive Erkrankung.

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-Syndrom.¹²

Eigenschaften

Diese sind:³

• Kleinwuchs.

• Retinitis pigmentosa, nystagmus, choroidal atrophy, Katarakt und Schielen.

• Micropenis with hypoplastic scrotum.

• Typ-2-Diabetes mellitus.

• Allgemeine Lernbehinderung.

• 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. Wachstumshormon treatment may be useful.

• Sprachtherapie.

• 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.