Iniencephaly: first case reported in Colombia and literature review
DOI:
https://doi.org/10.18597/rcog.166Keywords:
iniencephaly, neural tube defect, Latin-American Congenital Malformation Collaborative Study (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas – ECLAMC)Abstract
Introduction: iniencephaly is a rarely occurring defect of the neural tube, lacking established prevalence values to date. It is characterized by widening of the foramen magnum, rachischisis and marked retroflexion of the head. This article was aimed at reporting a case having classical findings of iniencephaly and providing a literature review.
Materials and methods: the case of a newly born female is presented; her first-time mother was aged 14 and consulted a third level hospital mainly attending patients from the southwestern Colombian public healthcare network. The prenatal echography showed a fetus having a cervical/ thoracic vertebrae defect. The newborn was subjected to autopsy and radiographies, revealing classical anomalies regarding iniencephaly. A search was made of Medline databases via PubMed using the key word “iniencephaly”.
Conclusion: this report’s importance lies in adding a new case of iniencephaly associated with meningocele and hypoplasia of the radius and ulna to the pertinent literature. It is the first case reported in Colombia.
Author Biographies
Wilmar Saldarriaga-Gil
Fabián Andrés Ruiz-Murcia
Carolina Isaza
References
Kulaylat NA, Narchi H. Iniencephaly: an uncommon neural tube defect. J Pediatr 2000;136:414.
Tejerizo A, de Marino M, Belloso M, Villalba A, Gonzalez MA, Ruiz A, et al. Iniencefalia. Clin Invest Gin Obst 2006;33:130-9.
Aguila A, Nazer J, Bentjerodt R. Prevención de defectos de cierre del tubo neural, a propósito de un caso de iniencefalia. Rev Chil Obstet Ginecol 1994;59:53-6.
Chih-Ping Chen. Prenatal diagnosis of iniencephaly. Taiwan J Obstet Gynecol 2007;46:199-208.
Castilla E, Orioli IM. ECLAMC: The Latin-American Collaborative Study of Congenital Malformation. Community Genet 2004;7:76-94.
Saldarriaga W, Blanco-Tamayo G, Bravo-López D, Díaz-Hung A, Fandiño A, Isaza C. La altitud como factor de riesgo para defectos del tubo neural. Rev Colomb Obstet Ginecol 2007;58:189-93.
Zarante I, Franco L, López C, Fernández N. Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas. Biomedica 2010;30:65-71.
Sahid S, Sepulveda W, Dezerega V, Gutierrez J, Rodriguez L, Corral E. Iniencephaly: prenatal diagnosis and management. Prenat Diagn 2000;20:202-5.
Sepulveda W, Wong AE, Fauchon DE. Fetal spinal anomalies in a first-trimester sonographic screening program for aneuploidy. Prenat Diagn 2011;31:107-14.
Gadodia A, Gupta P, Sharma R, Kumar S, Gupta G. Antenatal Sonography and MRI of Iniencephaly apertus and clausus. Fetal Diagn Ther 2010;27:178-80.
Dashe JS, Twickler DM, Santos-Ramos R, McIntire DD, Ramus R. Alpha-fetoprotein detection of neural tube defects and the impact of standard ultrasound. Am J Obstet Gynecol 2006;195:1623-8.
Joó JG, Beke A, Papp C, Szigeti Z, Csaba A, Papp Z. Major diagnostic and pathological features of iniencephaly based on twenty-four cases. Fetal Diagn Ther 2008;24:1-6.
Pungavkar SA, Sainani NI, Karnik AS, Mohanty PH, Lawande MA, Patkar DP, et al. Antenatal diagnosis of iniencephaly: sonographic and MR correlation: a case report. Korean J Radiol 2007;8:351-5.
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