A Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report

Document Type: Case Report

Authors

Departments of Pediatrics, Sir Padampat Mother and Child Health Institute, JK Lon Hospital, SMS Medical College, Jaipur, Rajasthan, India

Abstract

Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the meckelin transmembrane receptor (MKS3) located in the interior of the cells in the ciliary transition zone. Therefore, MGS as a fatal congenital syndrome belongs to a group of diseases known as ciliopathies. Most of the fetuses affected by this syndrome die before birth or soon after birth due to oligohydramnios, respiratory failure, and renal failure. There are few case reports of this syndrome associated with cleft lip and palate, inguinal hernia, congenital heart disease, micrognathia, microcephaly, and other abnormalities.
Case report: We report a case of unusual and interesting occurrenceof ambiguous genitalia in the MGS syndrome.
Conclusion: The MGS is a rare fatal syndrome and can be diagnosed prenatally. In the current case, we observed that ambiguous genitalia should be taken into consideration, in addition to the cardinal features. Parents should be counselled about the outcomes of a child, as well as the chance of recurrence (25%) in the subsequent pregnancies.

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1. Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, et al. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet. 2006; 38(2):191-6.

2. Aslan K, Külahçı Aslan E, Orhan A, Atalay MA. Meckel Gruber syndrome, a case report. Organogenesis. 2015; 11(2):87-92.

3. Coard KC, Escoffery CT. Meckel-Gruber syndrome. A lethal combination of abnormalities. West Indian Med J. 1990; 39(1):52-6.

 4. Parelkar SV, Kapadnis SP, Sanghvi BV, Joshi PB, Mundada D, Oak SN. Meckel-Gruber syndrome: a rare and lethal anomaly with review of literature. J Pediatr Neurosci. 2013; 8(2):154.

5. Salonen R, Paavola P. Meckel syndrome. J Med Genet. 1998; 35(6):497-501.

 6. Verma M, Sharma S, Suthar K, Thada B. Meckel Gruber syndrome: a rare case report. Int J Contemp Pediatr. 2018; 5(1):262-4.

 7. Yaqoubi HN, Fatema N. Meckel Gruber syndrome associated with anencephaly-an unusual reported case. Oxford Med Case Rep. 2018; 2018(2):omx092.

8. Jeevika M, Reddy TA, Kumar KA, Konareddy R. Meckel Gruber syndrome-a case report. IOSR J Dent Med Sci Ver. 2016; 15:2279-861.

 9. Ickowicz V, Eurin D, Maugey-Laulom B, Didier F, Garel C, Gubler MC, et al. Meckel-Gruber syndrome: sonography and pathology. Ultrasound Obstet Gynecol. 2006; 27(3):296-300.

 10. Meckel syndrome. Genetic Home Reference. US National of Medicine. Available at: URL: https://ghr.nlm.nih.gov/condition/meckel-syndrome# inheritance; 2012.