Syndrome of Marinesco-Sjögren

Described initially in 1931 by Gheorghe Marinescu, then in 1950 by Sjögren, the syndrome of Marinesco-Sjögren is characterized by a Ataxie with an atrophy of the Cervelet, a Cataracte congenital or appearing quickly after the birth, an important backwardness, a hypotonia and a muscular weakness. The other signs include/understand a various small size and osseous anomalies and in particular a Scoliose.

The children reached of this syndrome present a hypotonia to the birth, the muscular weaknesses appear during childhood. The ataxia and the Dysarthrie occur secondarily. The driving anomalies worsen gradually then are stabilized. It is impossible to predict the degree and the age of the stabilization of the driving attack.

Although involving a severe handicap, the life expectancy of these patients seems close to the normal.

The study of the muscular Biopsie to the Electron microscope makes it possible to find anomalies characteristic of the syndrome of Marinesco-Sjögren.

The Séquençage makes it possible to find in nearly 50% of the cases the change of the gene SIL1.

The principal differential diagnosis is association congenital Cataracte - dysmorphie facial - neuropathy.

Sources

Anna-Kaisa Anttonen, Anna-Elina Lehesjoki, Marinesco-Sjögren Syndrome in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2006

References

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