Meckel – Gruber sendromu: Olgu sunumu

Özet

Meckel Gruber Sendromu otozomal ressesif geçiş gösteren renal kist, santral sinir sistemi anormallikleri (ensefalosel), hepatik kanallarda kist ve displazi ve polidaktiliyle seyreden bir sendromdur. Bu hastalarda AFP düzeyleri yüksektir. Alternatif isimleri Meckel Sendromu, Disensephali Splanchnocystica, Gruber Sendromu ve Meckel-Gruber Sendromu. Bu vaka nadir görülen, rekürrens riski yüksek ve antenatal AFP düzeyi ölçümü ve ultrasonografi ile erken tanınabilen Meckel Gruber Sendromu’na dikkat çekmek için sunulmuştur.

Abstract

Meckel-Gruber syndrome is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. İn this cases AFP levels are increases. Alternative names are Meckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome and Meckel – Gruber Syndrome. This study is presented to draw attention to the Meckel Gruber Syndrome which seen rarely, have high risk of reccurence and antenathal determination of AFP levels and early diagnosis by ultrasonographic screening can be confident.