Meckel Gruber syndrome, A case report

Organogenesis. 2015;11(2):87-92. doi: 10.1080/15476278.2015.1055431. Epub 2015 Jun 2.

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.

Conclusion: 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.

Keywords: Meckel Gruber; cleft palate; encephalocele; polycystic kidneys; postaxial polydactly.

Publication types

  • Case Reports

MeSH terms

  • Ciliary Motility Disorders / diagnostic imaging*
  • Ciliary Motility Disorders / genetics*
  • Diagnosis, Differential
  • Encephalocele / diagnostic imaging*
  • Encephalocele / genetics*
  • Fatal Outcome
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Perinatal Death
  • Polycystic Kidney Diseases / diagnostic imaging*
  • Polycystic Kidney Diseases / genetics*
  • Pregnancy
  • Retinitis Pigmentosa
  • Ultrasonography, Prenatal / methods*

Supplementary concepts

  • Meckel syndrome type 1