Encephalocele and exencephaly are congenital malformations of the central nervous system with a frequency in Europe of 2.3/1000 births for the period 2003-2007.
Purpose : To examine the macroscopic and microscopic characteristics of the malformations encephalocele and exencephaly and the associated abnormalities of the internal organs in autopsies of fetuses with neural tube defects (NTD).
Materials and methods : Twenty-four fetuses with encephalocele and exencephaly were examined during a period of three years (2006-2009) in the Clinic of Fetopathology at the Center for Maternity and Neonatology - Tunisia. The fetuses were the result of interrupted pregnancies due to medical reasons, intrauterine fetal death, spontaneous abortions and neonatal death.
Results : The most common encephalocele was the occipital - 25.0%, followed by the parietal - 4.17%. Exencephaly was found in 12.50% of the studied cases. Associated gastrointestinal anomalies are anomalies of the mesentery, hepatosplenomegaly, polysplenia, a supplemental spleen, and hepatomegaly. Associated anomalies of the urinary system are tubular bladder, polycystic kidney and abnormalities in the shape and position of the kidney. The respiratory system anomalies are represented by hypoplasia, improper lung lobulation, and situs inversus. The anomalies of the abdominal wall ware severe: agenesis of the diaphragmal dome and agenesis of the umbilical artery (4.2%, 8.3%). The genetic study found a karyotype of triploidy (69, XXX) for 4.2% of the fetuses.
Conclusion : The sonographic examination should be a careful inspection of all systems and organs of the fetus and the amniotic fluid. In complicated cases of fetuses with encephalocele and exencephaly genetic counseling is imperative.
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