Meckel-Gruber syndrome: a rare and lethal foetal anomaly

Meckel-Gruber syndrome (MGS) is a rare and lethal autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and bilateral dysplastic cystic kidneys. It can be associated with many other congenital malformations. The incidence of Meckel-Gruber syndrome ranges between 1 in 13,000 to 4,00,000 live births. Antenatal ultrasound examination establishes the diagnosis by identifying at least two of the major features. A case is presented that describes a baby with ambiguous genitalia, who presented with the triad of Meckel-Gruber syndrome. The baby died shortly after birth.

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.

Síndrome de Meckel Gruber en recién nacido indígena sin control prenatal / Meckel Gruber Syndrome in an Indigenous Newborn with No Prenatal Control

En el Hospital José María Velasco Ibarra de la ciudad del Tena, provincia de Napo, en la República de Ecuador, se reportó el caso de un neonato con Síndrome de Meckel Gruber, de sexo femenino, fruto de un embarazo sin seguimiento prenatal, hijo de padres indígenas no consanguíneos, provenientes de la comunidad amazónica Tamiahurco ubicada en Misahuallí. En este recién nacido se presentó la triada diagnóstica al respecto: riñones hiperplásicos poliquísticos, encefalocele occipital y polidactilia postaxial bilateral, determina el diagnóstico de certeza de esta enfermedad, en la que al menos dos de estos elementos deben estar presentes. Además, puede cursar con malformaciones a nivel oral, genital, del Sistema Nervioso Central (SNC) y fibrosis hepática(AU)

At José María Velasco Ibarra Hospital in Tena, Napo province, in the Republic of Ecuador, the case of a female neonate with Meckel Gruber Syndrome is reported. This infant is the result of a pregnancy with no prenatal follow-up, non-consanguineous indigenous parents, from the Tamiahurco Amazon community, in Misahuallí. This newborn had the diagnostic triad of polycystic hyperplastic kidneys, occipital encephalocele and bilateral postaxial polydactyly, which determined this disease diagnosis of certainty, in which at least two of these elements must be present. Other symptoms are oral, genital malformations, hepatic fibrosis and malformations of the Central Nervous System (CNS)(AU)

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.

An Interesting Case of Meckel-Gruber Syndrome.

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. 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.

Síndrome de Meckel-Gruber: relato de caso / Meckel-Gruber syndrome: a case report

Os autores relatam um caso de diagnóstico pré-natal de síndrome de Meckel-Gruber em gestante de 12 anos de idade. A primeira ultra-sonografia, realizada na 32ª semana, identificou feto único portador de microcefalia, volumosa encefalocele na linha média da região occipital, lábio leporino completo bilateral e fenda palatina. Os rins encontravam-se de dimensões e ecotextura aumentadas, medindo cerca de 12 cm de comprimento, levando a importante aumento do volume abdominal. A genitália fetal não foi identificada, sendo visualizada pequena imagem cística na sua topografia.Em função da presença de oligodramnia, foi realizada ressonância magnética na 33ª semana, que confirmou os achados ultra-sonográficos e demonstrou uma lisencefalia. Na 34ª semana, a gestação evoluiu com amniorrexe prematura, sendo realizada cesariana, com retirada de natimorto, posteriormente encaminhado à necropsia. Polidactilia foi a única alteração presente não-identificada pelos métodos de imagem.

The authors report a case of antenatal ultrasound diagnosis of Meckel-Gruber syndrome in a 12-year-old pregnant girl. The first scan done at 32 weeks of gestation revealed a single fetus withmicrocephaly, large encephalocele in the occipital mid-line region, bilateral complete cleft lip, and cleft palate. The kidneys and their ecotexture were found to be enlarged, measuring about 12 cm in length, causing an important enlargement of the abdomen. The fetus' genitals were not identified, but a small cystic image was visualized in their topography. Due to the presence of oligohydramnios, a magnetic resonance was performed at 33 weeks of gestation,which confirmed the sonographic findings and demonstrated a lisencephaly. A premature rupture of membranes occurred at 34 weeks of gestation, upon which a caeserian section was performed, the stillborn baby removed and subsequently taken for a necropsy. Polydactyly was the only anomaly present which was not identified by the imaging methods used.

A case report of recurrent Meckel Gruber syndrome / 대한산부인과학회지

Meckel Gruber syndrome consisting of an occipital encephalocele, polycystic kidney disease and polydactyly is a rare autosomal recessive disorder with a recurrence risk of 25%. Targeted ultrasonography in late embryonic or early fetal stages of pregnancy has great importance in diagnosis and management of affected pregnancy in high risk groups due to incomplete genetic mapping of meckel syndrome gene (MKS). We present a case of prenatal diagnosis at 14 weeks' gestational age of Meckel Gruber syndrome in a woman, who experienced same disorder in her previous pregnancy.

Prenatal Diagnosis of Meckel-Gruber Syndrome with Dandy Walker Malformation

We report a 38 week old female fetus affected by Meckel-Gruber syndrome. Polycystic dysplastic kidneys, oligohydroamnios, symmetrical IUGR, hydrocephalus with Dandy-Walker cyst was observed on ultrasonographic (USG) examination. Small occipital encephalocele with polydactly was noted after delivery of child.

A Case of Meckel-Gruber Syndrome / 대한주산의학회잡지

Meckel-Gruber syndrome is a rare autosomal recessive disorder characterized by the triad of posterior meningoencephalocele, cystic change of kidney and polydactyly. It is associated with varying degree of multiple congenital anomalies. So the karyotype is normal, but the phenotype is highly variable. This syndrome is lethal and the patient seldom survive more than a few days to weeks. Prenatal diagnosis may be possible by elevated alpha fetoprotein level in amniotic fluid and sonographic examination. Regarding the 25% recurrence risk, obstetrician and pediatrician should do genetic counseling and serial antenatal examination. Here we describe a female neonate who showed multiple congenital anomalies including cystic change of left kidney, polydactyly of left hand, short neck, micrognathia, low set ears, subaortic stenosis, patent ductus arteriosus and atrial septal defects which could best be designate as Meckel-Gruber syndrome. She died at 22 days of life. We report a case of Meckel-Gruber syndrome with brief review of some related literatures.

A Case of Meckel-Gruber Syndrome Diagnosed by Ultrasonography at 18 Weeks` Gestation / 대한산부인과학회잡지

Meckel-Gruber syndrome is a congenital disorder characterized by occipital encephalocele, bilateral multicystic kidneys with fibrotic changes of the liver and postaxial polydactyly. Other anomalies are frequently associated. This syndrome is a rare autosomal recessive disorder often resulting in neonatal death within a few hours of life and has the high recurrence(one in four) in future pregnancies. We present the case of Meckel-Gruber syndrome diagnosed by ultrasonography at 18 weeks` gestation with a brief literature review.

Meckel-Gruber syndrome

Meckel-Gruber syndrome is a multiple malformation syndrome featuring occipital meningoencephalocele, multicystic dysplasia of kidney, cystic and fibrotic change of liver, polydactyly, and other characteristics inherited by the autosomal recessive trait. We exprienced a case of Meckel-Gruber syndrome in a newborn male diagnosed clinically and confirmed pathologically. Abnormalities of the fetus were found prenataly by ultrasonogram, and subsequently the baby was terminated by cesarean section delivery at 32 weeks of gestational age. We report this case with brief review of literature.

Meckel-Gruber Syndrome: An autopsy case report

Meckel-Gruber syndrome is a quite rare congenital disorder, characterized by posterior encepalocele, cleft palate and lip, polycystic kidneys, hepatic fibrosis with bile duct proliferation, and postaxial polydactyly and syndactyly. We experienced an autopsy case of M eckel-Gruber syndrome in a second baby of 28 year-old woman. At 26 weeks of gestation, congenital anomaly was detected on ultrasonographic examination and the pregnancy was terminated. Familial history was not noted.

Meckel-Gruber Syndrome: An autopsy case

We report an autopsy of a male fetus that showed multiple congenital anomalies that could best be designated as Meckel-Gruber syndrome. The fetus was born dead at the gestational age of 38 weeks. His parents denied any history of congenital malformation. And the parity of the mother was 0-0-0-0, but she had the past history of receiving herb medication for common cold. The congenital anomalies found in this case consited of occipital meningoencephalocele, midline cleft palate, bifid epiglottis, hepatic fibrosis, choledochal cyst, bilateral polycystic kidneys, postaxial polydactyly of both hands and feet, aplasia of the left testis, secundum type atrial septal defect and patent ductus arterious. This malformation syndrome is rare and lethal. The prenatal diagnosis should be made by ultrasound study or analysis of the amniotic fluid for alpha-feto protein during intrauterine period. The kidneys showed Potter type III cystic change and there was a characteristic hepatic fibrosis.