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Indian Journal of Trauma and Emergency Pediatrics 7(3-4):p 113-116, July - December 2015. | DOI: DOI: https://dx.doi.org/10.21088/ijtep.2348.9987.73415.5
Case Report
A Rare Case of Meckel Gruber Syndrome
Liza Bulsara* , Liza Bulsara* , Sunil Mhaske** , R. B. Kothari*** , Pratap Patare**** , Ninza Rawal*****
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Indian Journal of Trauma and Emergency Pediatrics 7(3-4):p 113-116, July - December 2015. | DOI: DOI: https://dx.doi.org/10.21088/ijtep.2348.9987.73415.5
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Abstract
Meckel-Gruber syndrome, also known as ‘Dysencephalia splanchnocystica’, is a rare lethal autosomal recessive disorder consisting of central nervous system malformation- mainly posterior encephalocele (80%), multicystic kidneys (95%) and polydactyly (75%). Besides the classic triad of neural tube defects, polydactyly and cystic dysplasia of the kidneys, other abnormalities can occur in association with the syndrome, which may be detected sonographically include micrognathia, cardiac abnormalities, syndactyly, clinodactyly and clubbed foot. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was reported in Gujarati Indians.We report a case of a 26-year-old woman with previous LSCS referred from a private practitioner with abnormal ultrasonographic findings. She was diagnosed to have Meckel-Gruber syndrome. Woman and her husband were counseled regarding this lethal condition incompatible with life and after proper consent and information, pregnancy was terminated.
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DOI: DOI: https://dx.doi.org/10.21088/ijtep.2348.9987.73415.5
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