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

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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.

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No datasets were generated or analysed during the current study.

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Authors and Affiliations

  1. Metropolitan Union of Education and Culture, Salvador, Brazil

    Jefferson Heber Marques Fontes Junior

  2. Bahiana School of Medicine and Public Health, Salvador, Brazil

    Silvio Porto Junior & Leonardo de Almeida Leão

  3. Salvador University, Salvador, Brazil

    Hugo Nunes Pustilnik

  4. General Hospital Roberto Santos, Salvador, Brazil

    Matheus Gomes da Silva da Paz, Taiane Brito Araujo, Fernanda Oliveira Gonçalves de Deus, Tancredo Alcântara, Jules Carlos Dourado & Leonardo Miranda de Avellar

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Contributions

Silvio Porto Junior (Porto Junior, S.) and Leonardo de Almeida Leão (Leão, L.A) from the Bahiana School of Medicine and Public Health spearheaded the study’s design, data analysis, and manuscript drafting. Jefferson Heber Marques Fontes Junior (Fontes, J. H. M. Jr.) from the Metropolitan Union of Education and Culture, and Hugo Nunes Pustilnik (Pustilnik, H. N.) from the University of Salvador significantly contributed to the methodology, data collection, and critical revision of the manuscript. Fontes J.H.M Jr contributed to the writing of the discussion. Matheus Gomes da Silva da Paz (Da Paz, M. G. S.), Taiane Araujo Brito (Brito, T. A.), Tancredo Alcântara Ferreira Junior (Alcantara, T.), Fernanda Oliveira Gonçalves de Deus and Leonardo Miranda de Avellar (De Avellar, L. M.) from the General Hospital Roberto Santos were instrumental in data acquisition, analysis, and provided substantial input in drafting and reviewing the manuscript, ensuring its intellectual rigor. Jules Carlos Dourado (Dourado, J.C), from the General Hospital Roberto Santos, contributed to the intellectual rigor of the article review.

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Correspondence to Jefferson Heber Marques Fontes Junior.

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Junior, J.H.M.F., Junior, S.P., Pustilnik, H.N. et al. Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review. Childs Nerv Syst (2024). https://doi.org/10.1007/s00381-024-06346-3

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