The Cyclopie: About an Observation and Review of Literature
Ndiaye JMM*, Mendy GK, Sow AS, Badji MD, Attye M, Diallo R and Ndoye Roth PA
Ophthalmology Department of Aristide Le Dantec Hospital, Dakar, Senegal
Submission: March 02, 2024; Published: April 17, 2024
*Corresponding author: Ndiaye JMM, Ophthalmology Department of Aristide Le Dantec Hospital, Dakar, Senegal
How to cite this article: Ndiaye JMM, Mendy GK, Sow AS, Badji MD, Attye M, et al. The Cyclopie: About an Observation and Review of Literature. JOJ Ophthalmol. 2024; 10(5): 555800. DOI: 10.19080/JOJO.2024.10.555800
Abstract
Cyclops are the most severe form of holoprosencephaly. It is a rare polygenetic malformation that occurs during early embryonic development. It is a single eye, or by extension, two eyes, contained in the same median orbit. We report a case of cyclopy at the Aristide Le Dantec National University Hospital. It was premature of 35 SA + 05 days, born of a pregnancy complicated by eclampsia, without pathological history in the parents. A prenatal ultrasound had objectified a severe hydro-amnios with a microcephaly. The ophthalmological examination showed a single median orbital cavity containing two different sized eyeballs. The general examination objectified a microcephaly, an arhinia and an abscess of the right foot. The orbito-cerebral CT showed a major cerebral malformation with microcrania type and a cyclopia. The child died after 27 days of ectopic life from respiratory distress. Cyclopia is a non-viable malformation whose prenatal diagnosis is based on the realization of an obstetric ultrasound from 12eSA. An etiological assessment is essential, it makes it possible to look for environmental and genetic risk factors.
Keywords: Cyclopies; Holoproencephalon; Polymalformation
Introduction
Cyclopia is the most severe form of holoprosencephaly (HPE), which is the most common congenital defect in the human anterior brain. Cyclopy represents 2% of HPE cases [1,2]. It is a rare polygenetic brain malformation that results from a defect in median cleavage of prosencephalon to right and left hemispheres and occurs during early embryonic development (between the 18th and 28th gestation days) [3,4]. Incompatible with postnatal life, cyclopia can be diagnosed on ultrasound of the first trimester, which can allow early termination of pregnancy [5]. We report an observation about cyclopie at the Aristide Le Dantec National University Hospital.
Observation
It was a premature born by cesarean section at 35 SA + 05 days that was referred to us by the maternity hospital for the management of a polymalfomative cephalic syndrome. The 35-year-old mother had no particular pathological history. There were no defects or malformations in the siblings. During pregnancy, she received three prenatal consultations. An obstetric ultrasound performed at 32 SA, revealed severe hydramnios and a suspicion of microcephaly. No sequelae of infection were noted (HIV1, HIH2, Syphilis and Hepatitis B). At birth, the Apgar score was 7/10 at the 1st minute and 8/10 at the 5th minute. The weight was 1555 g, the height 33cm and the cranial perimeter was 22 cm. The examination found a microcrania, a single central orbit, containing two different sized eyeballs. The right eye was more voluminous, seat of a megalocornea and a corneal xerosis. There was bilateral arhinia, small ears normally implanted, and an abscess in the right foot (Figure 1). There was no cleft palate or malformations of the extremities. The neck, spine and long bones were continuous and regular.
Cerebral computed tomography at J17 of life objectified an orbital anomaly with a single orbit and two eyeballs of normal size and appearance separated by a median partition (Figure 2). It revealed a major cerebral malformation, microcrania-cyclopy type, marked by an enlargement of the fourth ventricle and prepontic and quadrigeminal cisterns, an elevation of the cerebellum tent, a brain stem of normal density, a difficult individualisation of the central grey nuclei. There was a fluid density of the «cerebral hemispheres» apart from the persistence of the cerebral parenchyma in the frontal lobes punctuated by micro-calcifications. The lateral ventricles and the third ventricle were not individualized. The diagnosis of synophthalmia or incomplete cyclopia (or cyclopia imperfecta) was retained. Therapeutic management consisted essentially of resuscitation means such as hydro-electrolytic rehydration, continuous oxygen therapy, and blood transfusion. Ophthalmological treatment was administered based on eye washing, tobramycin eye drops, dexpanthenol (corneal scarring). Treatment of the right foot abscess was a parenteral antibiotic based on Cefotaxime 100mg/d and Amikacin 20mg/d. The evolution was marked by multiple episodes of respiratory distress of progressive aggravation. The last, occurred at J27 of life led to the death of the newborn.
Discussion
The term cyclopy is commonly used to describe either the anomaly of true cyclopy in which a single median eye is the only ocular structure present or synophthalmia in which two globes are partially fused in the middle position [6]. A third type of ocular deformation was observed in cyclopia, which is the total absence of eyeballs (anophthalmia) [7]. About 1.05 in 100,000 births, including stillbirths, are identified as cyclopeans. It is the second most common malformation of the human brain after anencephaly [8].
Epidemiological Aspects
In the Very Rare Anomaly study of the International Organization for Surveillance and Research on Congenital Anomalies, 20 monitoring programs in 25 countries provided data on cyclopia over a period of study from 1968 to 2006. A total of 257 infants with cyclopia were identified among the 25,580,661 births, resulting in a total prevalence of 1.0 per 100,000 births.
Genetic Aspects
Several genes have been involved in holoprosencephaly, but its genetic basis remains obscure. Chromosomal abnormalities are not specific. They are numerical or structural and can concern any chromosome [10]. Trisomy 13 is the aneuploidy most frequently associated with cyclopia. Trisomies 18 and 21 were also described, as well as triploidism [9]. Cyclopia is a heterogeneous condition, which may result from chromosomal abnormalities, genetic mutations, or teratogenic environmental factors [11].
Risk Factors
The etiology of HPE is very heterogeneous. Besides the genetic causes, this pathology can be caused by environmental or metabolic factors. However, few epidemiological studies have had a sufficient sample to examine risk factors. The only formally recognized environmental or maternal factors are insulin-dependent diabetes, well known to increase the risk of fetal malformations, and maternal alcoholism with a cumulative risk from smoking [11]. Fenugreek, which is contraindicated during pregnancy, is among the oldest medicinal and condiment plants used for anti-inflammatory properties. It is very popular with women in the Mediterranean, and for a few years in Senegal. In Morocco, it has been mentioned anecdotally in the genesis of prosencephalic induction abnormalities and more significantly in neural tube malformations [12]. Inbreeding, as a risk factor, has also been reported.
Ophthalmological Aspects
Three types of cyclopia are distinguished: monophthalmia, synophthalmia with two fused eyeballs and anophthalmia [14]. The newborn of our observation presented synophthalmia without proboscis. Prenatal ultrasound remains the best way for early diagnosis. In the first two trimesters, with careful examination of the face, the diagnosis of cyclopia is possible. In the third trimester, she found severe hydramnios, highlighting the signs of HPE, cyclopy with or without proboscis and arrhinia [15]. Very advantageous fetal MRI can be performed reliably from 18 weeks of gestation. Pathological examination helps to find an eye with different degrees of duplication of intrinsic ocular structures called synophthalmia, with a single optic nerve without chiasma. On histological examination, different abnormalities can be discovered such as retinal dysplasia, chorioretinian coloboma and optic nerve hypoplasia. The muscles of the eye are usually imperfectly separated and located around the optic nerve in conoid form [16].
Prognosis - Survival
Cyclopia often leads to miscarriage or stillbirth. Survival after birth is usually a few hours. A very limited survival, rarely exceeding the first week of life, has been reported. Thus, the particularly long-life span of our child cyclops, who survived 27 days, is an exception.
Conclusion
Holoprosencephaly is a non-viable malformation whose prenatal diagnosis is based on the realization of an obstetric ultrasound from the 12eSA. Etiological assessment is essential, it makes it possible to look for environmental and genetic risk factors, hence the interest of genetic studies in the prenatal assessment.
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