Diagnóstico Precoce de Encefalocelo Frontal Fetal – Caso Clínico
DOI:
https://doi.org/10.25753/BirthGrowthMJ.v23.i4.8790Keywords:
Encephalocele, neural tube defect, folic acid, fetal malformationsAbstract
We describe a case of a frontal encephalocele (7,2 mm), diagnosed at the 10+2 weeks’ ultrasound, in a 27 year-old primigravida, without relevant medical or surgical history. No other malformations were found at the ultrasound examination. After reviewing the published literature, this is apparently the earliest case of isolated encephalocele diagnosed prenatally 46,XY). In the intrauterine follow-up until 17 weeks, the lesion reached 16mm in size and accompanied fetal growth. The intrauterine evolution and additional study with fetal brain magnetic resonance imaging contributed to the decision of the medical termination of pregnancy at 18 weeks. The autopsy findings were consistent with the diagnosis.
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References
Cameron M, Moran P. Prenatal screening and diagnosis of neural tube defects. Prenat Diagn 2009; 29:402-11.
Van Zalen-Sprock RM, van Vugt JM, van Geijn HP. Firsttrimester sonographic detection of neurodevelopmental abnormalities in some single-gene disorders. Prenat Diagn 1996; 16:199-202.
Borowski D, Wegrzyn P, Bartkowiak R, Wyrwas D, Wielgo M. First trimester diagnosis of encephalocele - report of two cases and review of the literature. Ginekol Pol 2011; 82:700-4.
Blaas HG, Eik-Nes SH. Sonoembryology and early prenatal diagnosis of neural anomalies. Prenat Diagn 2009; 29:312-25.
Amadi CE, Eghwrudjakpor PO. The pattern of distribution of encephalocele in University of Port Harcourt Teaching Hospital-a three year experience. Niger J Med 2013; 22:19- 23.
Ahmed A, Noureldin R, Gendy M, Sakr S, Naby MA. Antenatal sonographic appearance of a large orbital encephalocele: a case report and differential diagnosis of orbital cystic mass. J Clin Ultrasound 2013; 41:327-31.
Singh N, Singh DK, Aga P, Singh R. Multiple neural tube defects in a child: A rare developmental anomaly. Surg Neurol Int 2012 ;3:147.
Onrat ST, Seyman H, Konuk M. Incidence of neural tube defects in Afyonkarahisar, Western Turkey. Genet Mol Res 2009; 8:154-61.
Sorak M, Zivanovi! A, Varjaci! M, Luki! G, Babi! G. The ultrasonographic diagnosis of fetal encephalocele at 13th gestational week. Vojnosanit Pregl 2010; 67:69-72.
Liao SL, Tsai PY, Cheng YC, Chang CH, Ko HC, Chang FM. Prenatal Diagnosis of Fetal Encephalocele Using Threedimensional Ultrasound. Journal of Medical Ultrasound 2012; 20:150-4.
Yazici LE, Malatyalioglu E, Sakinci M, Tosun M, Bildircin FD, Ogur G, Karayel M. Chromosomal anomalies and additional sonographic Þ ndings in fetuses with open neural tube defects. Arch Gynecol Obstet 2012; 286:1393-8.
Thompson DN. Postnatal management and outcome for neural tube defects including spina biÞ da and encephalocoeles. Prenat Diagn 2009; 29:412-9.
Calvo EB, Biglieri A. Impact of folic acid fortiÞ cation on women’s nutritional status and on the prevalence of neural tube defects. Arch Argent Pediatr 2008; 106:492-8.
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