Cyclopia with spinal bifida, a rare major congenital anomaly: A case report

Abstract

Cyclopia is, the most extreme form of holoprosencephaly, a rare and lethal complex human malformation resulting from incomplete cleavage of prosencephalon into the right and left hemispheres occurring between the 18th and 28th day of gestation(Dufresne and Jelks 2011). Cyclopia occurs approximately 1.05 in 100,000 births including stillbirths. Cyclopia typically presents with a median single eye or partially divided eye in a single orbit, absent nose, and proboscis above the eye. Extracranial malformations associated with Cyclops are polydactyl, renal dysplasia and omphalocele. The aetiology of Cyclopia is largely unknown. A 26-year-old primgravida with a gestational age of 22weeks plus 4 days delivered a 525gram female abortus with a single median eye, absent nose, 1.3cm by 1.5cm solid mass at the lumbar area at Ambo University Referral Hospital, Ethiopia. On prenatal ultrasound evaluation, severe hydrocephalus with spinal defect (Chiari II malformation) was considered, and the result was revealed to the couple and options for management, including termination of pregnancy, were discussed. The couple accepted the termination of the pregnancy. Prenatal diagnosis of Cyclopia can be achieved by detailed anatomical scan with ultrasound and MRI which, are usually followed by amniocentesis for fetal karyotype determination, which is impossible in our setup because of the lack of accessibility of the service.