Meckel-Gruber Syndrome with Multiple Congenital Anomalies- A Rare Lethal Case
AD05-AD07
Correspondence
Dr. Roli Joshi,
Flat No. 1718, Valencia, Mahagun Mezzaria, Sector 78, Noida-201301, Uttar Pradesh, India.
E-mail: roli_joshi2005@yahoo.com
Meckel-Gruber Syndrome (MGS), a rare autosomal recessive malformation syndrome with incidence of one per 13,250-140,000 live birth. It is a classical triad of occipital encephalocele, infantile polycystic kidneys and postaxial polydactyly with associated multiple congenital anomalies. It leads to the death of foetus in utero or shortly after birth. Most important diagnostic tools for MGS are antenatal ultrasonography and chromosomal study. A 3.14 kg dead female foetus was delivered from 19-year-old primigravida on the first visit to hospital with full term pregnancy. Sonography revealed no cardiac activity of the foetus in utero. Termination of pregnancy was done by the decision of obstetrician and consent of patient. Gross multiple anomalies along with microanatomical changes were noticed in foetus. Typical triad of polycystic kidney resulted to oligohydramnios, protrusion of meninges with brain tissue resulted to occipital encephalocele and limb anomalies might be hereditary or due to mutational changes. Histological changes were supportive of gross anatomical changes and ultrasound scan findings. Major changes as multiple cystic lesions in kidney, non functional alveoli in lungs and fibrous tissues with deranged hepatocytes in foetal liver were noticed. Concluding through all investigations and family history might confirm the diagnosis and help in further treatment or termination of pregnancy timely and directs for further genetic and chromosomal counselling.