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Meckel Gruber syndrome associated with anencephaly-an unusual reported case

Houda Nasser Al Yaqoubi1, Nishat Fatema1

  • 1Department of Obstetrics and Gynaecology, Ibri Regional Hospital, Ministry of Health, Ibri, Oman.

Oxford Medical Case Reports
|February 27, 2018
PubMed

Insights

Meckel-Gruber syndrome (MGS) is a rare lethal disorder causing severe developmental defects. This case highlights MGS with anencephaly and facial abnormalities, a rare presentation.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Teratology

Background:

  • Meckel-Gruber syndrome (MGS) is a rare, lethal ciliopathy affecting 1 in 13,000-400,000 live births.
  • It presents with multisystem developmental malformations, classically including renal cystic dysplasia, occipital encephalocele, and post-axial polydactyly.

Observation:

  • Central nervous system (CNS) abnormalities in MGS, besides occipital encephalocele, are less commonly reported.
  • These include hydrocephaly, anencephaly, and cerebellar malformations.
  • The presented case of MGS exhibits anencephaly and additional facial abnormalities, a rare clinical manifestation.

Findings:

  • The case underscores the variability of CNS involvement in Meckel-Gruber syndrome.
  • Anencephaly, a severe neural tube defect, is a significant finding in this MGS presentation.
  • Associated facial abnormalities further complicate the clinical picture.

Implications:

  • This rare presentation expands the known spectrum of Meckel-Gruber syndrome.
  • It emphasizes the need for comprehensive diagnostic approaches in suspected ciliopathies.
  • Further research into MGS genetics and developmental pathways is warranted.

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