Meckel Gruber syndrome, A case report

Abstract

ABSTRACT. Introduction: Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births.Case: In this report, we present a case of MGS in which the diagnosis was made at 19 weeks of gestation based on ultrasonographic findings of the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also placenta previa totalis. The patient was counselled regarding the lethal outcome of MGS. Unfortunately, the family did not approve the termination of pregnancy. At the 32nd week, she referred to hospital with complaints of vaginal bleeding and uterine contractions. An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation.Conclusıon: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies.

Meckel–Gruber syndrome together with Dandy–Walker malformation: an atypical case report of a 2nd recurrence in a consanguine marriage

“…At 10-14 weeks of gestation, USG is usually successful in detecting the triad of polycystic kidneys, polydactyly, and occipital encephalocele [11][12][13]. Two characteristics of the triad would strongly suggest the diagnosis of MKS [14,15]. Surprisingly, USG was inconclusive before the 7th month of gestation at 3 different pregnancies in our case.…”

Goldston syndrome with congenital hepatic fibrosis: A rare cause of neonatal cholestasis

“…A variety of other malformations have been reported in MGS. MGS may be associated with agenesis of cerebellar vermis and posterior fossa cyst suggestive of DWM, cystic hygroma, cardiac malformation, microcephaly, IUGR, and cleft palate (9,(11)(12)(13). Hepatic fibrosis and bile duct proliferation has also been reported and can be present in up to 1/5th of the cases (4,14).…”

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“…The prevelance varies from 1 per 1300 to 1 per 140000 live births [1]. The highest incidence was reported in Gujarati Indians 1 per 1300 [3] and Finland9000 [4]. A population based study of Meckel-Gruber syndrome in Europe from 1990 to 2011 reported a mean prevalence of 2.6 per 100 000 births and did not report any cases in Croatia [5].…”