Le syndrome de Meckel Gruber récurent : à propos d'un cas rare.

Asma Korbi; Ben Mohamed Khaoula; Badr Marwa; Belghaieb Ichrak

Authors

Asma Korbi Author
Ben Mohamed Khaoula Author
Badr Marwa Author
Belghaieb Ichrak Author

Abstract

We report of a case of Meckel Gruber Syndrome (MGS) in a woman, who suffered previously from a pregnancy with the same disorder. MGS, consisting of an occipital encephalocele, bilateral cystic kidneys and postaxial polydactyly, is a rare autosomal recessive disorder, with a recurrence risk of 25%. With the present technology, a targeted ultrasound in the late embryonic or early fetal stages of pregnancy has the potential to diagnose this syndrome. Clinical screening in further pregnancies is of utmost importance and the management of such cases is presented.

Résumé :

Le syndrome de Meckel Gruber est un syndrome poly malformatif rare, de transmission autosomique récessive, défini par d'encéphalocèle occipital, polydactylie et dysplasie kystique rénale. L'échographie constitue, à l'heure actuelle, le meilleur moyen de dépistage anténatal de cette poly malformation létale et sa confirmation se fait par l'étude du caryotype. Nous rapportons un cas de syndrome de Meckel récurrent découvert par échographie anténatale et une IRM fœtale au premier trimestre de grossesse avec confirmation du diagnostic à l’examen fœtopathologique. La grossesse a été interrompue à chaque cas.

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