A case report of an infant with both left-sided gastroschisis and septo-optic dysplasia and literature review: possible shared etiology?

Abstract

Gastroschisis is a congenital abdominal wall defect with extrusion of the abdominal contents through a defect typically just to the right of the umbilicus. Gastroschisis has been associated with multiple risk factors but its pathogenesis remains unknown. There are theories that it is due to a vascular insult, with known associations of young maternal age, cigarette smoking, and illicit drug use.1,2 The incidence of gastroschisis is ~5 per 10,000 live births, and may be increasing.3 Left-sided gastroschisis is even rarer with only 18 reports found in our review of the literature. Septo-optic dysplasia (SOD) is a heterogeneous clinical disorder characterized by a combination of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. The incidence of SOD is not certain, but reported to likely be ~1 per 10,000 livebirths.4 These two seemingly unrelated congenital anomalies have several features in common. While the incidence of most congenital anomalies is directly correlated with maternal age, both of these anomalies are more common in younger mothers.1,5–7 They are also both postulated to be related to an insult around the 6th week of gestation.1,5–7 Co-occurrence of gastroschisis and septo-optic dysplasia has been reported 4 times, with the gastroschisis on the left side in one case. We present a second case of both left-sided gastroschisis and septo-optic dysplasia occurring in an infant girl.