Abstract
Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (LSCS) & leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage.
Highlights
Meckel-Gruber Syndrome (MKS) known as Dysencephalia Splanchnicocystica, was first1
Aga Khan Hospital for Women in Karachi, Pakistan at 7th week of gestation. She had a history of her first pregnancy resulting in an unexplained intrauterine death (IUD) at term, accompanied by post-partum haemorrhage (PPH), and her second pregnancy ending in still birth due to MKS, after an elective caesarean section
MKS affects both genders equally[7], and consanguinity has been reported to be an important factor in the genetic basis of the disease[3,8] and its prevalence may be higher in Pakistan as about two-thirds of the marriages in Pakistan are consanguineous.[8]
Summary
Meckel-Gruber Syndrome (MKS) known as Dysencephalia Splanchnicocystica, was first. Aga Khan Hospital for Women in Karachi, Pakistan at 7th week of gestation She had a history of her first pregnancy resulting in an unexplained intrauterine death (IUD) at term, accompanied by post-partum haemorrhage (PPH), and her second pregnancy ending in still birth due to MKS, after an elective caesarean section. A trans-abdominal anomaly ultrasound was performed at 18 weeks of gestation which showed features consistent with MKS This included a small and irregular foetal skull suggestive of microcephaly and a defect in occipital region suggestive of posterior encephalocoele. Further genetic and family planning counselling was offered after which she requested for tubal ligation at the termination of her current pregnancy She was a non-compliant patient and lost follow up for 10 weeks and later presented in emergency at 34th week of gestation with leaking and labour pains.
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