Meckel-Gruber syndrome: a case report with review of literature

Meckel Gruber syndrome is an autosomal recessive disorder, characterized by a combination of renal cysts or cystic renal dysplasia, developmental anomalies of the central nervous system, hepatic dysgenesis and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report a case of Meckel Gruber syndrome in non Gujarati Indian which was diagnosed on fetal autopsy

Meckel-Gruber syndrome: about a case identified during deliver

Meckel-Gruber syndrome is an autosomal recessive disorder, usually lethal, most commonly characterised by the classic triad of polycystic kidneys, occipital encephalocele and polydactyly. Antenatal diagnosis can be made by ultrasound between 10 and 14 weeks of amenorrhoea. Recognition of this syndrome is important in order to establish the diagnosis and provide genetic counselling. Finally, well supervised termination of pregnancy should be the rule for lethal fetal malformations in order to relieve the psychological suffering of patients. However, in certain situations or working conditions, the diagnosis can be made late or even discovered during childbirth. We report a case of Meckel Gruber syndrome discovered at birth

Meckel Gruber Syndrome In A Nigerian Child: A Case Report

Meckel Gruber syndrome is a rare clinical condition that is fatal. It occurs globally and early diagnosis through prenatal ultrasound will assist management. We report a case of Meckel Gruber syndrome who survived for 6 days. Both parents are first cousins and a similar presentation had been reported in a previous sibling who was delivered as stillbirth. We concluded on the need to introduce pre‐natal anomaly ultrasound scan especially in localities with high rate of consanguineous couple

Meckel Gruber Syndrome In A Nigerian Child: A Case Report

Meckel Gruber syndrome is a rare clinical condition that is fatal. It occurs globally and early diagnosis through prenatal ultrasound will assist management. We report a case of Meckel Gruber syndrome who survived for 6 days. Both parents are first cousins and a similar presentation had been reported in a previous sibling who was delivered as stillbirth. We concluded on the need to introduce pre‐natal anomaly ultrasound scan especially in localities with high rate of consanguineous couple

Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage

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

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3?2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies

Meckel-gruber syndrome, a rare fetal anomaly: a case report

Otozomal resesif geçisli bir hastalık olan Meckel-Gruber Sendromu (MGS), multipl konjenital anomali içeren nadir bir hastalıktır ve letal seyreden bir sendromdur. MGS'nin klasik triadı; bilateral kistik renal displazi, oksipital ensefalosel ve postaksiyal polidaktilidir. Bunlardan üçünden en az ikisinin olması tanıyı koydurur. Bu yazıda intrauterinMGSsaptanan bir olgu sunulmasını amaçladık. Son adet tarihine göre 23 hafta 5 günlük gebelik + multipl fetal anomali nedeni ile gebe poliklinigimize refere edilen olgu obstetrik ultrasonografi ile degerlendirildi. Yasayan 2 saglıklı çocugu olan 26 yasındaki olgunun hikayesinden, daha önce 32. gebelik haftasında ölü dogum öyküsü oldugu, nedeninin bilinmedigi ama polidaktilisi bulundugu ögrenildi. Olgunun yapılan ultrasonunda fetal bilateral multikistik displastik böbrek, her iki elde polidaktili, bilateral ventrikülomegali ve anhidroamniyos saptandı. MGS düsünülen ve anhidramniyosu olan gebeye konsey kararı sonucu ve ailenin istegi ile tıbbi tahliye uygulandı. 750 gram agırlıgında bir erkek bebek ölü olarak dogurtuldu. Genetik incelemesi yapılan fetusun kromozom analizi normal (46, XY) olarak geldi. Otopsi sonucunda bilateral polikistik böbrek, her iki el ve ayaklarda polidaktili ve micrognati mevcuttu. Prenatal bilateral genislemis multikistik böbrek tanısı MGS'yi akla getirmelidir ve santral sinir sistemi malformasyonları ve polidaktili arastırması yapılmalıdır. Bununla birlikte fetal otopsinin tanının dogrulanmasında önemlidir.Meckel-Gruber Syndrome (MGS), an autosomal recessive disease, is a rare and lethal syndrome with congenital polymalformations Classical triad of MGS is bilateral cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. For diagnosis, two out of these three findings required to be present. In this article, we aimed to present a case with intrauterineMGS. Patient with 23 weeks and five days pregnancy (according to her last menstrual period) with multiple anomalies was evaluated by obstetric ultrasonography. The obstetric history of the 26-year-old patient revealed that she had 2 healthy living children and one previous intrauterine ex fetus with polydactyly and an unknown cause at 32 weeks of gestation. Ultrasonographic examination of the case showed fetal bilateral multicystic dysplastic kidney, polydactyly in hands, bilateral ventriculomegaly and anhidroamnios. The case was diagnosed as MGS and underwent medical termination of pregnancy with the consent of family and the council of doctors. An ex male infant weighing 750 grams was delivered. Genetic analysis showed normal chromosome analysis (46, XY). Bilateral polycystic kidneys, and polydactyly of both hands and feet, and microgynathy were found in autopsy. Investigation of central nervous system malformations and polydactyly should be conducted in patients with prenatal detection of bilateral enlarged multicystic kidneys, when MGS is considered as a possible diagnosis. Furthermore verification of the diagnosis with fetal autopsy is important

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

OBJECTIVE: To identify genetic causes of COACH syndrome BACKGROUND: COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis. The vermis hypoplasia falls in a spectrum of mid-hindbrain malformation called the molar tooth sign (MTS), making COACH a Joubert syndrome related disorder (JSRD). METHODS: In a cohort of 251 families with JSRD, 26 subjects in 23 families met criteria for COACH syndrome, defined as JSRD plus clinically apparent liver disease. Diagnostic criteria for JSRD were clinical findings (intellectual impairment, hypotonia, ataxia) plus supportive brain imaging findings (MTS or cerebellar vermis hypoplasia). MKS3/TMEM67 was sequenced in all subjects for whom DNA was available. In COACH subjects without MKS3 mutations, CC2D2A, RPGRIP1L and CEP290 were also sequenced. RESUlTS: 19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease. Two other families with COACH carried CC2D2A mutations, one family carried RPGRIP1L mutations, and one lacked mutations in MKS3, CC2D2A, RPGRIP1L and CEP290. Liver biopsies from three subjects, each with mutations in one of the three genes, revealed changes within the congenital hepatic fibrosis/ductal plate malformation spectrum. In JSRD with and without liver disease, MKS3 mutations account for 21/232 families (9%). CONCLUSIONS: Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L; therefore, MKS3 should be the first gene tested in patients with JSRD plus liver disease and/or coloboma, followed by CC2D2A and RPGRIP1L

A rare case of Meckel Gruber syndrome

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