Gastroschisis in a fetus with a congenital neuroblastoma: Association or coincidence?

• Published in: Birth defects research. A Clinical and molecular teratology 2016-03, Vol.106 (3), p.208-212
• Main Authors: Rosa, Rafael F.M., Michelon, Laura, Masiero, Átila, Faria, Adyr E.V., Souza, Vanessa F. De, Dietrich, Cristine, Targa, Luciano V., Provenzi, Valentina O., Pires, Silvana R.S., Zen, Paulo R.G.
• Format: Article
• Language: English
• Subjects: Abdominal Wall - abnormalities; Abdominal Wall - surgery; Adrenal Gland Neoplasms - diagnosis; Adrenal Gland Neoplasms - pathology; Adrenal Gland Neoplasms - surgery; Adrenalectomy; Antifibrinolytic Agents - therapeutic use; coagulation; congenital metastatic neuroblastoma; Female; Fetus; gastroschisis; Gastroschisis - diagnosis; Gastroschisis - pathology; Gastroschisis - surgery; Gestational Age; Humans; Infant, Newborn; Liver Neoplasms - diagnosis; Liver Neoplasms - secondary; Neuroblastoma - diagnosis; Neuroblastoma - secondary; Neuroblastoma - surgery; Pregnancy; Thrombosis - diagnosis; Thrombosis - drug therapy; Thrombosis - pathology; Ultrasonography, Prenatal; Vitamin K - therapeutic use; Young Adult
• ISSN: 1542-0752; 1542-0760
• DOI: 10.1002/bdra.23484

Background Gastroschisis is the most common abdominal wall defect. It is characterized by herniation of the intestine and other abdominal organs through a defect in the abdominal wall. Neuroblastoma is the most common malignant tumor observed during the neonatal period. It is a neuroendocrine tumor derived from neural crest cells that develops into the adrenal gland. Case We report on the undescribed association between gastrochisis and congenital neuroblastoma, diagnosised during the prenatal period. The mother was a 20‐year‐old healthy pregnant woman in her second pregnancy. Obstetric ultrasound examination showed a fetus presenting an abdominal wall defect on the right side of the umbilical cord, compatible with gastroschisis, and a hyperechogenic and spherical solid lesion on the left adrenal gland. Fetal magnetic resonance imaging disclosed similar features associated to a heterogeneous aspect of the liver. The diagnosis of metastatic neuroblastoma was confirmed after birth through liver biopsy. At 2 days of life, the prothrombrin time was abnormal, and the patient needed vitamin K. Conclusion We cannot rule out the possibility that a clotting defect, commonly observed in disseminated malignancies such as a metastatic neuroblastoma may be associated with the etiology of the gastroschisis, as this defect may result from a thrombosis occurring around 3 to 4 weeks of gestation, a period when neuroblasts development occurs into the adrenal medulla. However, we cannot exclude the possibility that both events may have occurred simultaneously by chance. Birth Defects Research (Part A) 106:208–212, 2016. © 2016 Wiley Periodicals, Inc.