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Cyclopia, a newborn with a single eye, a rare but lethal congenital anomaly: A case report

ABSTRACT:

Introduction and importance

Cyclopia is a rare congenital disorder characterized by facial abnormalities. In this condition, the orbits of the eye are not properly divided into two cavities so that they can be seen either as a single eye field or two bilateral fields that are very close to each other. This syndrome affects the embryos that are either aborted or stillborn upon delivery or, at best, die shortly after birth.

Case presentation

This case report is of a 37-week- and 5-day-old female fetus with a birth weight of 2300 g, a height of 43 cm, and a head circumference of 31 cm. She was born to a 44-year-old mother through normal vaginal delivery at Mahzad Hospital, Urmia, Iran. In the physical examination, an eye and a 4-cm proboscis were seen in the middle of the forehead. The newborn also had no nose, and his outer ears were normal. No cleft lip or cleft palate was observed. Unfortunately, the newborn expired 13 h after birth.

Clinical discussion

Cyclopia leads to a stillbirth since the brain and other parts of the body do not grow normally in fetuses with this disorder. Moreover, it can be diagnosed using ultrasonography while the fetus is growing inside the uterus.

Conclusion

Early diagnosis during pregnancy using diagnostic methods and proper management of this abnormality should be emphasized to prevent further harm to the newborn and the mother with this syndrome. Moreover, many of these newborns should be offered early neonatal palliative care. Highlights • Cyclopia is a rare congenital disorder with life-threatening complications.• Cyclopia mostly affects the embryos that are either aborted or stillborn.• Early diagnosis during pregnancy should be emphasized to prevent its complications.• Prenatal palliative care emphasizes the importance of planning for the experience of losing an infant.• Parental involvement in end-of-life care for their infant is an important aspect of neonatal palliative care.

SUBMITTER: Parizad N

PROVIDER: S-EPMC8581486 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:INTRODUCTION:Cyclopia (alobar holoprosencephaly) (OMIM% 236100) is a rare and lethal complex human malformation, resulting from incomplete cleavage of prosencephalon into right and left hemispheres occurring between the 18th and the 28th day of gestation. Holoprosencephaly occurs in 1/16,000 live births, and 1/250 during embryogenesis. Approximately 1.05 in 100,000 births are identified as infants with cyclopia, including stillbirths. Cyclopia typically presents with a median single eye or a partially divided eye in a single orbit, absent nose, and a proboscis above the eye. Extracranial malformations described in stillbirths with cyclopia include polydactyl, renal dysplasia, and an omphalocele. The etiology of this rare syndrome, which is incompatible with life, is still largely unknown. Most cases are sporadic. Heterogeneous risk factors have been implicated as possible causes. CASE PRESENTATION:A live full-term baby with birth weight of 2900 g, product of cesarean section because of severe fetal bradycardia, was born at Prince Hashem Military Hospital - Zarqa city/Jordan. This newborn was the first baby to a non-consanguineous family, and a healthy 18-year-old mother, with no history of drug ingestion or febrile illnesses during pregnancy. Antenatal history revealed severe hydrocephalus diagnosed early by intrauterine ultrasound but the pregnancy was not terminated because of the lack of medical legitimization in the country. On examination, the newborn was found to have a dysmorphic face, with a median single eye, absence of nose, micrognathia, and a proboscis above the eye, all of which made cyclopia the possible initial diagnosis. Multiple unusual abdominal defects were present that include a huge omphalocele containing whole liver and spleen, urinary bladder extrophy, and undefined abnormal external genitalia, which called for urgent confirmation. Brain MRI was done and revealed findings consistent with alobar holoprosencephaly (cyclopia). CONCLUSION:Presentation of cyclopia is not fully exposed and new cyclopian syndromes still can appear. The prenatal diagnosis of cyclopia can be made early by ultrasound, and the awareness of the spectrum of sonographic findings of cyclopia can improve the accuracy of prenatal diagnosis. The legitimization of pregnancy termination for indexed cases in many countries around the world should be revised.