Núñez CAC, Arguelles AM

Language: Spanish
References: 11
Page: 1-13
PDF size: 398.09 Kb.

ABSTRACT

Introduction: Meckel-Gruber's syndrome, considered a ciliopathy, is an unusual and lethal developmental anomaly, whose autosomal recessive condition favors that its risk of recurrence be raised in each gestation.
Objective: To describe the appearing of one constant triad of multiple malformations in a same family's progeny.
Case presentation: A couple's case is presented, no consanguineous, with voluntary completion of three consecutive pregnancies for the presence in its progeny of congenital defects of the central nervous system, renal dysplasia, polydactyly, diagnosed by means of a two-dimensional ultrasonography, along with other alterations of development embryo-fetal, which constitute the criteria for the clinical diagnosis of Meckel-Gruber's syndrome.
Conclusions: It is evidenced the importance of the prenatal ultrasonography in the second pregnant trimester, as not invasive diagnostic means, in the identification of the main congenital anomalies which allow us to do the clinic diagnosis of Meckel-Gruber syndrome.

REFERENCES

1. Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA. Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances. Pediatr. 2017 [acceso 26/09/2019];5:244. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701918/

2. Houda Nasser AY, Nishta F. Meckel-Gruber syndrome associated with anencephaly-an unusual reported case. Oxford Medical Case Reports 2018 [acceso 26/09/2019];2:45-7. Disponible en: https://academic.oup.com/omcr/article-abstract/2018/2/omx092/4846368

3. Kheir AEM, Imam A, Omer IM, Hassan IMA, Elamin SA, Awadalla EA et al. Meckel-Gruber Syndrome: A Rare and lethal Anomaly. Sudan J Paediatr. 2012 [acceso 26/09/2019];12(1):93-6. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4949827/pdf/sjp-12-93.pdf

4. Behairy NH, Talaat S, Saleem SN, El-Raouf MA. Magnetic resonance imaging in fetal anomalies: What does it add to 3D and 4D US?. Eur J Radiol. 2009 [acceso 26/09/2019];74(1):250-5. Disponible en: https://www.sciencedirect.com/science/article/abs/pii/S0720048X09000576

5. Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E. Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. Eur J Hum Genet. 2015 [acceso 26/09/2019];23(6):746-52. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/25182137

6. Silva E D, Pinazo-Durán M D. Ciliopatías y su relación con la oftalmología. Arch Soc Esp Oftalmol. 2013 [Acceso 26/09/2019];88(5):165-7. Disponible en: https://www.elsevier.es/es-revista-archivos-sociedad-espanola-oftalmologia-296-articulo-ciliopatias-su-relacion-con-oftalmologia-S0365669113001573

7. Álvarez-Sanz AM, Cabanillas-Burgos LY, Huamani-Condori XP.Síndrome de Joubert. Joubert syndrome. Artículo de revisión, Rev Neuro psiquiatr. 2016 [acceso 26/09/2019]:79(3). Disponible en: http://www.scielo.org.pe/scielo.php?script=sci_arttext&pid=S0034-85972016000300006

8. Acosta-Ochoa M I. Síndrome de Bardet-Biedl, modelo de ciliopatía e importancia del compromiso renal. Nefrología. 2013 [acceso 26/09/2019]:33(5) 623-868. Disponible en: https://www.revistanefrologia.com/es-sindrome-bardet-biedl-modelo-ciliopatia-e-importancia-del-compromiso-renal-articulo-X021169951305305X

9. Jiménez García R, Peñalver Valdés R, Alfonso Novo L. Síndrome de Smith-Lemli-Opitz y su tratamiento nutrimental metabólico. Presentación de caso. RevCubanaPediatr. 2017 [acceso 26/09/2019];89(1). Disponible en: https://revpediatria.sld.cu/index.php/ped/article/view/187/90

10. Valente EM, Rasim O, Gibbs E, Gleeson J. Primary cilia in neurodevelopmental disorders. Nature Reviews Neurology. 2014 [acceso 26/09/2019];10(1):27-36. Disponible en: https://pubmed.ncbi.nlm.nih.gov/24296655/

11. Ramírez-Izcoa AE, Sánchez-Sierra LE, Alvarenga-Calidonio RH, Varela-González D. Síndrome de Meckel-Gruber en un lactante menor con sobrevida prolongada. Reporte de Caso. Acta Pediatr Mex. 2018 [acceso 26/09/2019];39(1):33-41. Disponible en: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S0186-23912018000100033