Meckel-Gruber Syndrome: A Case Report at RHUH

Darido Jessie,Khazaal Janoub,Luk Melodie,Chahine Rabih,El Hachem Larissa

doi:10.11648/j.jgo.20200804.17

Abstract

A rare lethal autosomal recessive condition called Meckel-Gruber Syndrome (MGS) has a clinical and genetical heterogenicity. A 15-year-old primigravid presented at the 16th gestational week of her pregnancy at the Rafic Hariri University Hospital (RHUH) for antenatal ultrasonography. She had a third degree consanguineous marriage with no previous uterine scars, no previous invasive testing, no previous fetal anomaly, no comorbidities and no family history of congenital anomalies. On the other hand, her current pregnancy was not the result of an Artificial Reproductive technique (ART) and her medication at home was only based on vitamins and calcium. The antenatal ultrasonography showed the following features: (1) occipital encephalocele (2) diffuse subcutaneous edema (3) bilateral dysplastic kidneys and the bladder was not visualized. These features were suggestive of Meckel Gruber Syndrome (MGS). We concluded that ultrasound in the context of genetic diseases, especially our MGS case, is considered as a secondary prevention tool.

Highlights

Johann Friedrich Meckel was the first author to report this syndrome in 1822
A 15-year-old primigravid (G1 P0 A0 L0 D0 E0) Syrian lady presented at the 16th gestational week of her pregnancy at the Rafic Hariri University Hospital (RHUH) for antenatal ultrasonography
She was referred by the outpatient department (OPD) of the hospital after her first visit as a routine measurement with no evident clinical abnormal findings

Summary

Introduction

Johann Friedrich Meckel was the first author to report this syndrome in 1822. Those cases were reported were not diagnosed antenatally especially that the era of ultrasound hadn’t started yet at that time [1,2,3,4]. The incidence of MGS is not very precisely known. As mentioned by some authors, it is almost around 1:140 000 [5]. More than 200 cases of MGS were reported in the literature. We hereby report one of rare lethal autosomal recessive conditions called Meckel-Gruber Syndrome (MGS) known as dysencephalia splanchnocystica with its clinical and genetical heterogenicity

Case Presentation

Findings

Discussion

Conclusion