Craniorachischisis, gastroschisis, and a branchial sinus defect: a case report.

Neural tube defects (NTDs) are an important common congenital malformation that are thought to occur as a result of the interaction of many genes and environmental factors. NTDs occur from the failure of the closure of neural tube from embryonic neurylation precursors of brain and spinal cord. The failure of the neural tube closure, causes NTDs such as anencephaly and spina bifida. Cranial part (anencephaly) and lower spine (open spina bifida, meningomyelocele) are most frequently affected. However, craniorachischisis, a serious type of NTD, is the opening of almost all the neural tube, starting from the brain until the middle spine is rare (2, 5).Gastroschisis is a congenital defect characterized by incomplete closure of the abdominal wall (1). This condition is a paraumbilical defect of the anterior abdominal wall resulting in herniation of abdominal viscera outside of the abdominal cavity. The abdominal wall defect is usually a small, smooth-edged opening which is almost always located to the right of the umbilicus (4, 7). Previously studies indicate that women younger than 20 years old are disproportionately more likely to have a gastroschisis-affected pregnancy (4).Branchial arch defects are often located in front of the sternocleidomastoid muscle in the neck region. Temporary 2, 3 and 4th branchial clefts resolute until 8th gestation week. Failure of closure results in the development of cervical sinuses (3,6).We report a very rare case with 13 weeks and 4 days of gestational age, coexisting anencephaly, rachischisis, gastroschisis and branchial sinus defects.Our case is the first pregnancy of a healthy 20 year old mother and 25 year old father, with no consanguinity. NTD was detected on ultrasonography scan at the 10th gestational week. The fetus was terminated at 13 weeks and 4 days gestational age. The fetal examination after termination revealed anencephaly, craniorachischisis (Fig. 1), small forehead, hypertelorism, proptosis, wide philtrum, webbed neck, openness in front of bilateral stemocleidocranial muscles sized 1x2 mm (branchial sinus defect) (Fig. 2). The 3rd finger of right-hand was laterally deviated. Mild pterygia were present between shoulders and arms. Gastroschisis residing in the fetus consisted only of small intestine in the right paraumbilical region. Other systems were not found to have problems.In the fetus, MTHFR gene, karyotype, and related analysis were not performed. The mother has wild type Factor V Leiden, Factor V H1299R, Factor II, MTHFR C677T gene, and homozygous polymorphism in the MTHFR A1298C gene.NTDs are serious and the most common congenital anomalies of central nervous system (CNS). Majority of NTDs are sporadic. The incidence of NTDs are frequently reported to be in the range of 0.5-1 case per 10,000 pregnancies worldwide and is the frequent anomaly of the CNS. This incidence implies multifactorial polygenic or oligogenic pattern. That is, more frequent than dominant or recessive character of the single-gene disorders (1). Many individuals with NTD (partial meningomyelocele), have handicaps of multiple systems and a limited life expectancy. According to Greene et al., anencephaly and craniorachischisis are anomalies that can be detected in 6-10 gestational weeks of prenatal period (2). …