Iniencephaly: first case reported in Colombia and literature review

Authors

  • Wilmar Saldarriaga-Gil
  • Fabián Andrés Ruiz-Murcia
  • Carolina Isaza

DOI:

https://doi.org/10.18597/rcog.166

Keywords:

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

Médico, Especialista en Ginecología y Obstetricia. Maestría en Ciencias Básicas Médicas, Énfasis en Embriología y Genética. MACOS Grupo de Malformaciones Congénitas Perinatales y Dismorfología, Universidad del Valle. Profesor Asociado. Departamentos de Morfología, Ginecología y Obstetricia, Facultad de Salud, Universidad del Valle. Hospital Universitario del Valle, ESE Ladera. Cali (Colombia). 

Fabián Andrés Ruiz-Murcia

Estudiante Cuarto Año, Pregrado de Medicina y Cirugía, Universidad del Valle. Cali (Colombia).

Carolina Isaza

Médico, Maestría en Ciencias Básicas Médicas, Énfasis Embriología y Genética. MACOS Grupo de Malformaciones Congénitas Perinatales y Dismorfología, Universidad del Valle. Profesora Titular. Departamento de Morfología, Facultad de Salud, Universidad del Valle. Vicerrectora de Investigaciones, Universidad del Valle. Cali (Colombia).

References

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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.

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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.

How to Cite

1.
Saldarriaga-Gil W, Ruiz-Murcia FA, Isaza C. Iniencephaly: first case reported in Colombia and literature review. Rev. colomb. obstet. ginecol. [Internet]. 2011 Dec. 20 [cited 2024 May 16];62(4):345-9. Available from: https://revista.fecolsog.org/index.php/rcog/article/view/166

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2011-12-20
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