A rare case of Meckel Gruber syndrome
Keywords:Meckel Gruber Syndrome, Meningoencephalocele, Polycystic Kidney, Postaxial Polydactyly
Meckel Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder. It is characterized by triad of features having occipital meningoencephalocele, polycystic kidneys and post-axial polydactyly. We report an antenatal patient detected with occipital meningoencephalocele in foetus on early anomaly scan at 15 weeks of gestation followed by foetal MRI which revealed the typical triad features strongly suggestive of MGS. The patient opted for medical termination of pregnancy and the abortus was autopsied, with the permission of the patient, for detailed evaluation of anomalies which were consistent with MGS. This case highlights the importance of a detailed foetal evaluation antenatally to detect anomalies which are incompatible with life and proper diagnosis as it has bearing on patient’s future obstetric outcome.
Gruber GB. Contributions to the question of "coupled" malformations (acrocephaly syndactyly and Dysencephalia splanchnocystica). Contribution Pathol Anat. 1934;93:459-79.
Meckel JF. Description of two siblings distorted by very similar deviations. Dtsch Arch Physiol. 1822;7:99-172.
Ramachandran U, Malla T, Joshi KS. Meckel-Gruber syndrome-case note. Kathmandu University Medical Journal 2006;4(3),15:334-6.
Salonen R, Paavola P. Meckel syndrome. J Medi Genet. 1998;35(6):497-501.
Young I D, Rickett AB, Clarke M. High incidence of Meckel's syndrome in Gujarati Indians. J Med Genet. 1985;22(4):301-4.
Wright C, Healicon R, English C, Burn J. Meckel syndrome: what are the minimum diagnostic criteria? J Med Genet. 1994;31(6):482-5.
Sudan MS, Gupta S, Sharma N, Nargotra RC. Meckel-Gruber Syndrome: Sonographic Detection- Case report. JK Science. 1999;1(1):30-2.
Fried K, Liban E, Lurie M, Friedman S, Reisner SH. Polycystic Kidneys Associated with Malformations of the Brain, Polydactyly and Other Birth defects in Newborn Sibs. J Med Genet.1971;8(3):285-90.
Paavola P, Salonen R, Weissenbach J. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet. 1995;11(2):213-5.
Badano JL, Mitsuma N, Beales PL. The ciliopathies: an emerging class of Human Genetic Disorders. Annu Rev Genomics Hum Genet. 2006;7:125-48.