International Journal of Current Research and Review
ISSN: 2231-2196 (Print)ISSN: 0975-5241 (Online)
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IJCRR - 6(15), August, 2014

Pages: 20-23

Date of Publication: 10-Aug-2014


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MECKEL-GRUBER SYNDROME - A RARE CONGENITAL ANOMALY

Author: Volga Harikrishnan, Meenakshisundaram K, Aruna Gnanakuruparan

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Abstract:Aim: This study is aimed to stress the importance of prenatal tests and fetal autopsy after abortion to confirm the syndrome and counseling for abortion and evaluation of recurrence risk in the future pregnancies. Case report: A 25 year old female, G3P1L1A1 admitted for termination of pregnancy due to multiple anomalies which was revealed by ultrasound examination. Termination of pregnancy followed by foetal autopsy was carried out. A definitive diagnosis of
Meckel-Gruber syndrome was made out by morphological examination and histopathological examination.
Discussion: Meckel-Gruber syndrome is a rare autosomal recessive disorder, characterized by occipital myeloencephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. But the characteristic clinical triad consists of occipital encephalocele, polycystic kidneys and postaxial polydactyl. Locus heterogeneity is a feature of Meckelgruber syndrome. Conclusion: Meckel-gruber syndrome is a rare and lethal congenital anomaly.

Keywords: Meckel-gruber syndrome, fetal autopsy, polycystic kidney disease, polydactyly

Full Text:

INTRODUCTION
Meckel-gruber syndrome (MGS) is a rare autosomal recessive disorder. It is a lethal congenital anomaly characterized by presence of occipital meningocele, bilateral dysplastic kidneys and polydactyly. We report a rare case of Meckel-gruber syndrome aborted at 32 weeks of gestation for which fetal autopsy was done.

CASE HISTORY
25 year old female, G3P1L1A1 admitted for termination of pregnancy due to multiple anomalies. She was booked outside for present pregnancy. Ultrasound examination: Occipital meningocele, bilateral dysplastic kidneys, hypoplastic lungs, marked oligoamnios and polydactyly. Patient expelled dead born female foetus

AUTOPSY FINDINGS
32 weeks female fetus with crown rump length of 33cm, chest circumference of 22cm. Polydactyly (Six digits) noted in all four limbs (Figure 1 and 2).

Segment of umbilical cord measured 10cm in length and showed two arteries and one vein. Head circumference measured 45 cm and it showed features of meningocele (Figure 3). No cleft lip or cleft palate present. Two incisor teeth were identified in the oral cavity. Body opened by midline incision from symphisis menti to symphisis pubis passing left to umbilicus. On opening of thoracic and abdominal cavity the disposition of organs were normal. Thorax, Heart and major blood vessels, thymus, Gastro intestinal tract, liver, spleen and genital system were found to be normal. Lungs were grossly hypoplastic. Adrenals showed haemorrhage. Right kidney weighed about 20gm and left kidney was 15gm. External surfaces showed lobulation. Cut surface of both kidneys showed cystic areas of size 0.5cm (Figure 4). Sections were taken from appropriate sites.

MICROSCOPIC FEATURES
Section taken from meningocele showed meninges with congested vessels. No brain substance seen. Microscopically sections from both kidney showed primitive glomeruli and primitive tubules with dilated tubules lined by flattened cells and surrounded by immature mesenchyme. No cartilaginous elements seen. (Figure 5, 6)

DISCUSSION
Meckel-gruber syndrome (MGS) is otherwise called as Dysencephalia splanchnocystica (1). It was first described byJohann Friedrick Meckel and it is a rare autosomal recessive lethal disorder. The incidence worldwide has been reported as 1:13,250 to 1:140,000(2). Finnish and Gujarati Indians show an increased incidence of this condition. (3)

Meckel-gruber syndrome is characterized by occipital myeloencephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly (4).But the characteristic clinical triad consists of occipital encephalocele, polycystic kidneys and postaxial polydactyly. At least two of these features are essential for the diagnosis. Microcephaly, cleft palate and ambiguous genitalia may also be present in Meckel-gruber syndrome. (5) Meckel-gruber syndrome can be diagnosed prenatally by ultrasound findings at 11 to 14 weeks of gestational age. Alfa fetoprotein can also be measured in the maternal serum but it is not elevated when the encephalocele contain a closed sac (6). It can occur following artificial insemination like in vitro fertilization. Celentano et al reported a case of MGS diagnosed at 17 weeks in a pregnancy obtained with intracytoplasmic sperm injection (ICSI) (7). Three genes (MKS1, MKS2 and MKS3) have been identified. MKS1 located on chromosome 17q, MKS2 is on chromosome 11q and MKS3 is on chromomsome 8q or 13 q. Locus heterogeneity is a feature of Meckel-gruber syndrome since the presence of phenotype variability (8).

CONCLUSION
We present this rare and interesting case of Meckel-gruber syndrome. In our case there was no consanguinity, presented with meningocele, bilateral cystic renal dysplasia and polydactyly of all four limbs. Although improved prenatal testing like ultrasound, serum alfa fetoprotein estimation and karyotyping has increased, the detection of Meckel-gruber syndrome, morphological confirmation by fetal autopsy remains valuable diagnostic tool. In pregnancy complicated by this syndrome, counselling for abortion and evaluation of recurrence risk in the future pregnancies are important.

ACKNOWLEDGEMENT
Authors acknowledge the immense help received from the scholars whose articles are cited and included in references of this manuscript. The authors are also grateful to authors / editors / publishers of all those articles, journals and books from where the literature for this article has been reviewed and discussed.

References:

1. Naveen N.S , Vishal K. and Vinay. MECKEL-GRUBER SYNDROME - A CASE REPORT. Nitte University Journal of Health Science, Vol. 3, No.1, March 2013, ISSN 2249-7110.

2. Prasanna shetty, Nandakishore ,Shankargouda Patil et al. Meckel-Gruber syndrome.The journal of Contemporary Dental Practice.Sep-Oct 2012;13(5):713-715.

3. Jha T, Bardhan J, Das B et al. Meckel-Gruber syndrome: a rare clinical entity. J Indian Med Assoc. 2010 Sep;108(9):611-2.

4. Chen CP. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan J Obstet Gynecol. 2007 Mar;46(1):9- 14.

5. Yu CJ, Chen CP, Jeng CJ, Yang YC. Early prenatal diagnosis of Meckel syndrome--a case report. Zhonghua Yi Xue Za Zhi (Taipei). 1990 Jul;46(1):53-6.

6. C Panduranga, Ranjit Kangle, Rajshree Badami et al. Meckel-Gruber syndrome: Report of two cases. J Neurosci Rural Pract. 2012 Jan-Apr; 3(1): 56–59. 

7. Celentano C, Prefumo F, Liberati M et al. Prenatal diagnosis of Meckel-Gruber syndrome in a pregnancy obtained with ICSI. J Assist Reprod Genet. 2006 Jun; 23(6):281-3. Epub 2006 Jun 21.

8. Dahiya N, Vijay S, Prabhakar S et al. Antenatal Ultrasound diagnosis of Meckel-Gruber syndrome. Indian J Radiol Imaging [serial online] 2001 [cited 2013 Nov 1]; 11:199-201.

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One article from every issue is selected for the ‘Best Article Award’. Authors of selected ‘Best Article’ are rewarded with a certificate. IJCRR Editorial Board members select one ‘Best Article’ from the published issue based on originality, novelty, social usefulness of the work. The corresponding author of selected ‘Best Article Award’ is communicated and information of award is displayed on IJCRR’s website. Drop a mail to editor@ijcrr.com for more details.

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A Study by Sudha Ramachandra & Vinay Chavan entitled "Enhanced-Hybrid-Age Layered Population Structure (E-Hybrid-ALPS): A Genetic Algorithm with Adaptive Crossover for Molecular Docking Studies of Drug Discovery Process" is awarded Best article for Vol 12 issue 15
A Study by Varsha M. Shindhe et al. entitled "A Study on Effect of Smokeless Tobacco on Pulmonary Function Tests in Class IV Workers of USM-KLE (Universiti Sains Malaysia-Karnataka Lingayat Education Society) International Medical Programme, Belagavi" is awarded Best article of Vol 12 issue 14, July 2020
A study by Amruta Choudhary et al. entitled "Family Planning Knowledge, Attitude and Practice Among Women of Reproductive Age from Rural Area of Central India" is awarded Best Article for special issue "Modern Therapeutics Applications"
A study by Raunak Das entitled "Study of Cardiovascular Dysfunctions in Interstitial Lung Diseas epatients by Correlating the Levels of Serum NT PRO BNP and Microalbuminuria (Biomarkers of Cardiovascular Dysfunction) with Echocardiographic, Bronchoscopic and HighResolution Computed Tomography Findings of These ILD Patients" is awarded Best Article of Vol 12 issue 13 
A Study by Kannamani Ramasamy et al. entitled "COVID-19 Situation at Chennai City – Forecasting for the Better Pandemic Management" is awarded best article for  Vol 12 issue 12
A Study by Muhammet Lutfi SELCUK and Fatma entitled "Distinction of Gray and White Matter for Some Histological Staining Methods in New Zealand Rabbit's Brain" is awarded best article for  Vol 12 issue 11
A Study by Anamul Haq et al. entitled "Etiology of Abnormal Uterine Bleeding in Adolescents – Emphasis Upon Polycystic Ovarian Syndrome" is awarded best article for  Vol 12 issue 10
A Study by entitled "Estimation of Reference Interval of Serum Progesterone During Three Trimesters of Normal Pregnancy in a Tertiary Care Hospital of Kolkata" is awarded best article for  Vol 12 issue 09
A Study by Ilona Gracie De Souza & Pavan Kumar G. entitled "Effect of Releasing Myofascial Chain in Patients with Patellofemoral Pain Syndrome - A Randomized Clinical Trial" is awarded best article for  Vol 12 issue 08
A Study by Virendra Atam et. al. entitled "Clinical Profile and Short - Term Mortality Predictors in Acute Stroke with Emphasis on Stress Hyperglycemia and THRIVE Score : An Observational Study" is awarded best article for  Vol 12 issue 07
A Study by K. Krupashree et. al. entitled "Protective Effects of Picrorhizakurroa Against Fumonisin B1 Induced Hepatotoxicity in Mice" is awarded best article for issue Vol 10 issue 20
A study by Mithun K.P. et al "Larvicidal Activity of Crude Solanum Nigrum Leaf and Berries Extract Against Dengue Vector-Aedesaegypti" is awarded Best Article for Vol 10 issue 14 of IJCRR
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A review by Chitra et al to analyse relation between Obesity and Type 2 diabetes is awarded 'Best Article' for Vol 10 issue 10 by IJCRR. 
A study by Karanpreet et al "Pregnancy Induced Hypertension: A Study on Its Multisystem Involvement" is given Best Paper Award for Vol 10 issue 09

List of Awardees

A Study by Ese Anibor et al. "Evaluation of Temporomandibular Joint Disorders Among Delta State University Students in Abraka, Nigeria" from Vol 13 issue 16 received Emerging Researcher Award


A Study by Alkhansa Mahmoud et al. entitled "mRNA Expression of Somatostatin Receptors (1-5) in MCF7 and MDA-MB231 Breast Cancer Cells" from Vol 13 issue 06 received Emerging Researcher Award


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