Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review

Childs Nerv Syst. 2024 Jul;40(7):2161-2168. doi: 10.1007/s00381-024-06346-3. Epub 2024 Mar 9.

Abstract

Introduction: Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial polydactyly. Identified by Johann Friederich Meckel in 1822, MKS is categorized as a ciliopathy due to gene mutations. Diagnosis is confirmed by the presence of at least two key features. The condition is incompatible with life, leading to death in the womb or shortly after birth. Recent studies have largely focused on the genetic aspects of MKS, with limited information regarding the impact of neurosurgical approaches, particularly in treating encephaloceles.

Methods: A systematic review was performed according to the PRISMA statement. The PubMed, Embase, and Web of Science databases were consulted for data screening and extraction, which was conducted by two independent reviewers. The search strategy aimed to encompass studies documenting cases of MKS with published reports of encephalocele excisions, and the search strings for all databases were: Meckel-Gruber syndrome OR Meckel Gruber syndrome OR Meckel-gruber OR Meckel Gruber.

Results: The study included 10 newborns with MKS associated with occipital encephalocele or meningocele, all of whom underwent surgical repair of the occipital sac. The mean gestational age at birth was 36 (± 2) weeks. The mean of birth weight was 3.14 (± 0.85) kilograms. The average head circumference at birth was 33.82 cm (± 2.17). The mean diameter of the encephalocele/meningocele was 5.91 (± 1.02) cm. Other common central nervous system abnormalities included hydrocephalus, Dandy-Walker malformation, and agenesis of the corpus callosum. 40% required shunting for hydrocephalus. Surgery to remove the occipital sac occurred at a median age of 2.5 days (1.5-6.5). The most common post-surgical complication was the need for mechanical ventilation. The most common cause of death was pneumonia and the median age at death was 6.66 (0.03-18) months.

Conclusion: Our findings suggest that neurosurgical intervention, especially for managing encephaloceles, may offer some improvement in survival, albeit within a context of generally poor prognosis. However, these results should be interpreted with caution.

Publication types

  • Systematic Review
  • Review

MeSH terms

  • Ciliary Motility Disorders* / genetics
  • Ciliary Motility Disorders* / surgery
  • Encephalocele* / diagnostic imaging
  • Encephalocele* / surgery
  • Eye Abnormalities / surgery
  • Humans
  • Infant, Newborn
  • Neurosurgical Procedures* / methods
  • Polycystic Kidney Diseases* / genetics
  • Polycystic Kidney Diseases* / surgery
  • Retinitis Pigmentosa* / surgery

Supplementary concepts

  • Meckel syndrome type 1