Meckel-Gruber Syndrome: A Case Report at RHUH

Darido Jessie; Khazaal Janoub; El Hachem Larissa; Luk Melodie; Chahine Rabih

doi:doi:10.11648/j.jgo.20200804.17

| Peer-Reviewed

Meckel-Gruber Syndrome: A Case Report at RHUH

Darido Jessie, Khazaal Janoub, El Hachem Larissa, Luk Melodie, Chahine Rabih

Published in Journal of Gynecology and Obstetrics (Volume 8, Issue 4)

Received: 1 July 2020 Accepted: 13 July 2020 Published: 10 August 2020

Views: Downloads:

Download PDF

Share This Article

Twitter
Linked In
Facebook

Abstract

A rare lethal autosomal recessive condition called Meckel-Gruber Syndrome (MGS) has a clinical and genetical heterogenicity. A 15-year-old primigravid presented at the 16^th gestational week of her pregnancy at the Rafic Hariri University Hospital (RHUH) for antenatal ultrasonography. She had a third degree consanguineous marriage with no previous uterine scars, no previous invasive testing, no previous fetal anomaly, no comorbidities and no family history of congenital anomalies. On the other hand, her current pregnancy was not the result of an Artificial Reproductive technique (ART) and her medication at home was only based on vitamins and calcium. The antenatal ultrasonography showed the following features: (1) occipital encephalocele (2) diffuse subcutaneous edema (3) bilateral dysplastic kidneys and the bladder was not visualized. These features were suggestive of Meckel Gruber Syndrome (MGS). We concluded that ultrasound in the context of genetic diseases, especially our MGS case, is considered as a secondary prevention tool.

Published in	Journal of Gynecology and Obstetrics (Volume 8, Issue 4)
DOI	10.11648/j.jgo.20200804.17
Page(s)	108-112
Creative Commons	This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.
Copyright	Copyright © The Author(s), 2020. Published by Science Publishing Group

Keywords

Meckel-Gruber, Syndromes, Ultrasound, Antenatal Diagnosis, Congenital Abnormalities

References

[1]	Mecke J. Passarge E Encephalocele, polycystic kidneys and polydactyly as an autosomal recessive trait simulating certain other disorders Ann Genet 1971; 14: 97.
[2]	Karjalainen 0, Aula P, sepala M et al Prenatal diagnosis of the Meckel Syndrome obstet Gynecol 1981; 47: 136.
[3]	Gruber G B. Beitrage zur Frage “gekoppelter” Missbildungen akrocephalossyndactylie und dysencphalia splancnocystica. Beitr path Anat 1934; 93: 459-476.
[4]	Meckel JF Beschreiburg zweier durch sehr ahnliche bildungsabweichungen entsteller Geschwister. Deutsch Archiv physiol 1822; 7: 99-172.
[5]	Jha T, Bardhan J, Das B, Patra KK, Dhali B, Seth S. meckel-Gruber syndrome: a rare clinical entity J Indian Med Assoc 2010; 108 (9): 611-2
[6]	Salonen R, Norio R, Reynolds James F. The Meckel syndrome: clinicopathological findings in 67 patients Am J Med Genet 1984. (4): 6771-689.
[7]	Behairy NH, Talaat S, Saleem SN, El Raouf MA. magnetic resonance imaging in fetal anomalies: what does it add to 3D and 4DUS? Eur J Radiol 2009; 74 (1): 250-5.
[8]	Nybergg DA, Hallesy D, Mahony BS et al Meckel Gruber syndrome: importance of prenatal diagnosisJ Ultrasound Med 1990 9: 691.
[9]	Jones KL, Meckle Gruber syndrome Smith’s recognizable pattern of human malformations 5^th ed. Philadelphia: W. B. Saunders; 1997.
[10]	Celentano C, perfume F, Liberati M, Gallo G, Di Nisio Q, Rotmensch S, prenatal diagnosis of Meckel Gruber syndrome in a pregnancy obtained with ICSI, J Assist Reprod Genet 2006; 23 (6): 281-3.
[11]	Wright C, Healicon R, English C, Burn J. Meckel syndrome: what are the minimum diagnostic criteria ? J Med Genet. 1994; 31 (6): 482-5.
[12]	Salonen R, Norio R The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet. 1984; 18 (4): 691-8.
[13]	Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, khadijah A et al A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum Mutat 2011 32 (6): 573-8.
[14]	N Dahiya, S vijay, S Subhramaniam, Antenatal ultrasound diagnosis of Meckel Gruber SyndromeIndian J Radiol Imaging 2001; 11: 199-201.
[15]	Monteagudo A, Timor-tritsch I fetal neurosonography of congenital brain anomalies. Ultrasonography of the prenatal and neonatal brain, McGraw-Hill, New York 2001.
[16]	monteagudo A, Alayon A, Mayberry P, walker-warburg syndrome: case report and review of the literature, J ultrasound Med 2001; 20 (4): 419.
[17]	Chaumoitre K, Brun M, Cassart M, Maugey-Laulom B, Eurin D, dider F, Avni EF, differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study, Ultrasound Obstet Gynecol 2006; 28 (7): 911.
[18]	Brezina PR, Brezina DS, Kearns WG, preimplantation genetic testing BMJ 2012; 345: e5908.

Cite This Article

Plain Text BibTeX RIS

APA Style

Darido Jessie, Khazaal Janoub, El Hachem Larissa, Luk Melodie, Chahine Rabih. (2020). Meckel-Gruber Syndrome: A Case Report at RHUH. Journal of Gynecology and Obstetrics, 8(4), 108-112. https://doi.org/10.11648/j.jgo.20200804.17

Copy | Download

ACS Style

Darido Jessie; Khazaal Janoub; El Hachem Larissa; Luk Melodie; Chahine Rabih. Meckel-Gruber Syndrome: A Case Report at RHUH. J. Gynecol. Obstet. 2020, 8(4), 108-112. doi: 10.11648/j.jgo.20200804.17

Copy | Download

AMA Style

Darido Jessie, Khazaal Janoub, El Hachem Larissa, Luk Melodie, Chahine Rabih. Meckel-Gruber Syndrome: A Case Report at RHUH. J Gynecol Obstet. 2020;8(4):108-112. doi: 10.11648/j.jgo.20200804.17

Copy | Download

@article{10.11648/j.jgo.20200804.17,
  author = {Darido Jessie and Khazaal Janoub and El Hachem Larissa and Luk Melodie and Chahine Rabih},
  title = {Meckel-Gruber Syndrome: A Case Report at RHUH},
  journal = {Journal of Gynecology and Obstetrics},
  volume = {8},
  number = {4},
  pages = {108-112},
  doi = {10.11648/j.jgo.20200804.17},
  url = {https://doi.org/10.11648/j.jgo.20200804.17},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.jgo.20200804.17},
  abstract = {A rare lethal autosomal recessive condition called Meckel-Gruber Syndrome (MGS) has a clinical and genetical heterogenicity. A 15-year-old primigravid presented at the 16th gestational week of her pregnancy at the Rafic Hariri University Hospital (RHUH) for antenatal ultrasonography. She had a third degree consanguineous marriage with no previous uterine scars, no previous invasive testing, no previous fetal anomaly, no comorbidities and no family history of congenital anomalies. On the other hand, her current pregnancy was not the result of an Artificial Reproductive technique (ART) and her medication at home was only based on vitamins and calcium. The antenatal ultrasonography showed the following features: (1) occipital encephalocele (2) diffuse subcutaneous edema (3) bilateral dysplastic kidneys and the bladder was not visualized. These features were suggestive of Meckel Gruber Syndrome (MGS). We concluded that ultrasound in the context of genetic diseases, especially our MGS case, is considered as a secondary prevention tool.},
 year = {2020}
}

Copy | Download

TY  - JOUR
T1  - Meckel-Gruber Syndrome: A Case Report at RHUH
AU  - Darido Jessie
AU  - Khazaal Janoub
AU  - El Hachem Larissa
AU  - Luk Melodie
AU  - Chahine Rabih
Y1  - 2020/08/10
PY  - 2020
N1  - https://doi.org/10.11648/j.jgo.20200804.17
DO  - 10.11648/j.jgo.20200804.17
T2  - Journal of Gynecology and Obstetrics
JF  - Journal of Gynecology and Obstetrics
JO  - Journal of Gynecology and Obstetrics
SP  - 108
EP  - 112
PB  - Science Publishing Group
SN  - 2376-7820
UR  - https://doi.org/10.11648/j.jgo.20200804.17
AB  - A rare lethal autosomal recessive condition called Meckel-Gruber Syndrome (MGS) has a clinical and genetical heterogenicity. A 15-year-old primigravid presented at the 16th gestational week of her pregnancy at the Rafic Hariri University Hospital (RHUH) for antenatal ultrasonography. She had a third degree consanguineous marriage with no previous uterine scars, no previous invasive testing, no previous fetal anomaly, no comorbidities and no family history of congenital anomalies. On the other hand, her current pregnancy was not the result of an Artificial Reproductive technique (ART) and her medication at home was only based on vitamins and calcium. The antenatal ultrasonography showed the following features: (1) occipital encephalocele (2) diffuse subcutaneous edema (3) bilateral dysplastic kidneys and the bladder was not visualized. These features were suggestive of Meckel Gruber Syndrome (MGS). We concluded that ultrasound in the context of genetic diseases, especially our MGS case, is considered as a secondary prevention tool.
VL  - 8
IS  - 4
ER  -

Copy | Download

Author Information

Darido Jessie

Department of Obstetrics and Gynecology, Rafic Hariri University Hospital, Beirut, Lebanon
Khazaal Janoub

Department of Obstetrics and Gynecology, Rafic Hariri University Hospital, Beirut, Lebanon
El Hachem Larissa

Department of Obstetrics and Gynecology, Faculty of Medicine, Holy Spirit University of Kaslik, Kaslik, Lebanon
Luk Melodie

Department of Obstetrics and Gynecology, Faculty of Medicine, Paris 12 University, Creteil, Ile de France, France
Chahine Rabih

Department of Obstetrics and Gynecology, Rafic Hariri University Hospital, Beirut, Lebanon

Download PDF

Sections

Plain Text BibTeX RIS

APA Style

Darido Jessie, Khazaal Janoub, El Hachem Larissa, Luk Melodie, Chahine Rabih. (2020). Meckel-Gruber Syndrome: A Case Report at RHUH. Journal of Gynecology and Obstetrics, 8(4), 108-112. https://doi.org/10.11648/j.jgo.20200804.17

Copy | Download

ACS Style

Darido Jessie; Khazaal Janoub; El Hachem Larissa; Luk Melodie; Chahine Rabih. Meckel-Gruber Syndrome: A Case Report at RHUH. J. Gynecol. Obstet. 2020, 8(4), 108-112. doi: 10.11648/j.jgo.20200804.17

Copy | Download

AMA Style

Darido Jessie, Khazaal Janoub, El Hachem Larissa, Luk Melodie, Chahine Rabih. Meckel-Gruber Syndrome: A Case Report at RHUH. J Gynecol Obstet. 2020;8(4):108-112. doi: 10.11648/j.jgo.20200804.17

Copy | Download

@article{10.11648/j.jgo.20200804.17,
  author = {Darido Jessie and Khazaal Janoub and El Hachem Larissa and Luk Melodie and Chahine Rabih},
  title = {Meckel-Gruber Syndrome: A Case Report at RHUH},
  journal = {Journal of Gynecology and Obstetrics},
  volume = {8},
  number = {4},
  pages = {108-112},
  doi = {10.11648/j.jgo.20200804.17},
  url = {https://doi.org/10.11648/j.jgo.20200804.17},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.jgo.20200804.17},
  abstract = {A rare lethal autosomal recessive condition called Meckel-Gruber Syndrome (MGS) has a clinical and genetical heterogenicity. A 15-year-old primigravid presented at the 16th gestational week of her pregnancy at the Rafic Hariri University Hospital (RHUH) for antenatal ultrasonography. She had a third degree consanguineous marriage with no previous uterine scars, no previous invasive testing, no previous fetal anomaly, no comorbidities and no family history of congenital anomalies. On the other hand, her current pregnancy was not the result of an Artificial Reproductive technique (ART) and her medication at home was only based on vitamins and calcium. The antenatal ultrasonography showed the following features: (1) occipital encephalocele (2) diffuse subcutaneous edema (3) bilateral dysplastic kidneys and the bladder was not visualized. These features were suggestive of Meckel Gruber Syndrome (MGS). We concluded that ultrasound in the context of genetic diseases, especially our MGS case, is considered as a secondary prevention tool.},
 year = {2020}
}

Copy | Download

TY  - JOUR
T1  - Meckel-Gruber Syndrome: A Case Report at RHUH
AU  - Darido Jessie
AU  - Khazaal Janoub
AU  - El Hachem Larissa
AU  - Luk Melodie
AU  - Chahine Rabih
Y1  - 2020/08/10
PY  - 2020
N1  - https://doi.org/10.11648/j.jgo.20200804.17
DO  - 10.11648/j.jgo.20200804.17
T2  - Journal of Gynecology and Obstetrics
JF  - Journal of Gynecology and Obstetrics
JO  - Journal of Gynecology and Obstetrics
SP  - 108
EP  - 112
PB  - Science Publishing Group
SN  - 2376-7820
UR  - https://doi.org/10.11648/j.jgo.20200804.17
AB  - A rare lethal autosomal recessive condition called Meckel-Gruber Syndrome (MGS) has a clinical and genetical heterogenicity. A 15-year-old primigravid presented at the 16th gestational week of her pregnancy at the Rafic Hariri University Hospital (RHUH) for antenatal ultrasonography. She had a third degree consanguineous marriage with no previous uterine scars, no previous invasive testing, no previous fetal anomaly, no comorbidities and no family history of congenital anomalies. On the other hand, her current pregnancy was not the result of an Artificial Reproductive technique (ART) and her medication at home was only based on vitamins and calcium. The antenatal ultrasonography showed the following features: (1) occipital encephalocele (2) diffuse subcutaneous edema (3) bilateral dysplastic kidneys and the bladder was not visualized. These features were suggestive of Meckel Gruber Syndrome (MGS). We concluded that ultrasound in the context of genetic diseases, especially our MGS case, is considered as a secondary prevention tool.
VL  - 8
IS  - 4
ER  -

Copy | Download