A fetus with meckel-gruber syndrome associated with isomerism

• Authors: Tanya Kitova , Kristina Kilova , Borislav Kitov , Aida Masmoudi , Denis Milkov , Soumeya Gaigi
• Languages of publication: EN

Abstracts

EN

Abstract. Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation. As far as we know, the rate of incidence for the syndrome is 0.02 per 10,000 births. It is estimated that Meckel-Gruber syndrome accounts for 5% of all neural tube defects in Finland. Objective. The aim of this study is to present a case of a fetus with Meckel-Gruber syndrome associated with complete left isomerism. Method. The fetus was obtained after medical interruption of the pregnancy during the fifteenth gestational week. The mother was 36 years old and in a consanguineous marriage. The antenatal ultrasound examination revealed a polymalformative syndrome, leading to a postmortem examination. The fetopathological study of the fetus was conducted at the Centre for Maternity and Neonatology, Tunis, Tunisia, in 2008. Results. The female fetus had a significantly deformed ballooning abdomen, pes equinovarus, flexion of the wrist and a total posterior cleft palate. The central nervous system abnormalities were occipital encephalocele, cystic dilatation of the fourth ventricle, agenesis of corpus callosum and hydrocephalus. The study of the internal organs found dextrocardia, irregular lobulation of the lungs, left isomerism, and polysplenia. The microscopic examination revealed bilateral cystic dilation of the kidneys, fibrous proliferation of the liver and ectasic dilatation of the billiary ducts, representing a ductal plate malformation of the liver. Conclusion. The case is diagnosed with Meckel-Gruber syndrome associated with complete left isomerism, cleft palate and possibly Dandy-Walker syndrome.

Keywords

EN

Encephalocele; Fetus; Isomerism; Meckel-Gruber syndrome; Postmortem examination

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2014
• Volume: 9
• Issue: 3
• Pages: 481-484

Dates

published

1 - 6 - 2014

online

8 - 7 - 2014

Contributors

author

Tanya Kitova

• Department of Anatomy, Histology and Embryology, Medical University — Plovdiv, Plovdiv, 4002, Bulgaria

author

Kristina Kilova

• Medical University — Plovdiv, Plovdiv, 4002, Bulgaria

author

Borislav Kitov

• Medical University — Plovdiv, Plovdiv, 4002, Bulgaria

author

Aida Masmoudi

• Department of Fetopathology and Embryology, Centre of Maternity and Neonatology, “La Rabata” Tunis, Tunis, Tunisia

author

Denis Milkov

• Medical University — Plovdiv, Plovdiv, 4002, Bulgaria

author

Soumeya Gaigi

• Department of Fetopathology and Embryology, Centre of Maternity and Neonatology, “La Rabata” Tunis, Tunis, Tunisia

References

• [1] Bergsma D. Birth Defects. Atlas and Compendium. Macmillan Press. London. 1979
• [2] Alexiev B.A., Lin X., Sun C.C., Brenner D.S. Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria and differential diagnosis. Arch Pathol Lab Med, 2006, 130, 1236–1238
• [3] Nyberg D.A., et al. Meckel-Gruber syndrome; Importance of Prenatal Diagnosis. Journal of Ultrasound Medicine, 1990, 9, 691–696
• [4] Adams M., Simms R.J., Abdelhamed Z., Dawe H.R., Szymanska K., et al. A meckelin-filamin A interaction mediates ciliogenesis. Hum Mol Genet, 2012, 15,21,1272–1286 http://dx.doi.org/10.1093/hmg/ddr557[Crossref]
• [5] Guilhard-Costa A.M., A.M., J.C Larroche. Fetal biometry: charts for practical use in fetopathology and antenatal ultrasonoraphy. Fetal Diagn Ther., 1995, 10, 211–278 http://dx.doi.org/10.1159/000264241[Crossref]
• [6] Szymanska K., Berry I., Logan C.V., Cousins S.R, Lindsay H., et al. Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. Cilia, http://www.ciliajournal.com/content/1/1/18
• [7] Kitova T.T., Aida M., Dorra Z., Dalenda C., Gaigi S.S. Fetopathological aspects of holoprosencephaly. Folia Med.,2011,53,39–44
• [8] Chen C.P. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan J Obstet Gynecol., 2007, 46, 9–14 http://dx.doi.org/10.1016/S1028-4559(08)60100-X[Crossref]
• [9] Renal-hepatic-pancreatic dysplasia syndrome (Ivemark’s syndrome) Mahesha Vankalakunti, Kirti Gupta, Nandita Kakkar* and Ashim Das Diagnostic Pathology, 2007,2,24 http://www.diagnosticpathology.org/content/2/1/24
• [10] Tanriverdi H.A., Hendrik H.J, Ertan K., Schmidt W. Meckel Gruber syndrome: a first trimester diagnosis of a recurrent case. Eur J Ultrasound, 2002, 15, 69–72 http://dx.doi.org/10.1016/S0929-8266(02)00009-5[Crossref]

Identifiers

DOI

10.2478/s11536-013-0304-0