Cyclopia with proboscis: A rare congenital anomaly

Abstract

Cyclopia with a proboscis, a rare congenital anomaly, and a severe form of holoprosencephaly occur as a result of incomplete separation of prosencephalon into two halves of hemispheres during organogenesis. A prenatal anomaly scan can help in the early detection of the condition and timely termination of the pregnancy. Cyclopia with a proboscis, a rare congenital anomaly, and a severe form of holoprosencephaly occur as a result of incomplete separation of prosencephalon into two halves of hemispheres during organogenesis. A prenatal anomaly scan can help in the early detection of the condition and timely termination of the pregnancy.

Full text

Clin Case Rep. 2021;9:e04466.
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https://doi.org/10.1002/ccr3.4466
wileyonlinelibrary.com/journal/ccr3
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INTRODUCTION
Cyclopia or alobar holoprosencephaly is a rare and lethal con-
genital anomaly and a rare form of holoprosencephaly (HPE)
which occurs as a result of incomplete separation of prosen-
cephalon into two halves of hemispheres during organogene-
sis leading to failure of cleavage of orbit into two cavities of
eyes.1This entity represents a developmental seize of the an-
terior terminal of the neural plate. Typically, the nose is either
missing or replaced with a nonfunctioning nose in the form of
a proboscis.1 Such a proboscis that generally appears above
the central eye is a characteristic of a form of cyclopia called
rhinencephaly or rhinocephaly. While holoprosencephaly af-
fects one in 16,000live newborns, cyclopia is seen as rarely
as one in 100,000 newborns, including stillbirths. Extracranial
malformations described in stillbirths with cyclopia include
polydactyly, renal dysplasia, and an omphalocele.2,3
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CASE REPORT
A 40- year- old apparently healthy G6P5+1L4Tamang, an al-
coholic woman with no previous congenital anomalous birth,
a homemaker, presented at 31+2 - week period of gestation
(POG) in the labor room with complaints of lower abdominal
pain and decreased fetal movements for 3 days. She never
had an antenatal checkup (ANC) in any of her previous preg-
nancies and neither had any ultra- sonogram done. She had a
spontaneous abortion 4years back at 12weeks POG. There
was no history of any other drugs or alternative medicine in-
take, radiation exposure, or history of fever during pregnancy.
On examination, she was conscious with a blood pressure
of 120/70mmHg, respiratory rate of 16/minute and tachycar-
diac (HR- 120 bpm), and other vitals stable. On abdominal
examination, the uterus was of 32- week size, relaxed; fetal
parts were palpable but no fetal heart rate was detected. On
vaginal examination, cervical os was 1cm dilated, soft pos-
terior, 10% effaced, and the amniotic membrane was intact.
All her laboratory investigations were within normal limits.
Ultrasonography showed a singleton pregnancy of approxi-
mately 29th- 30th weeks of POG with fundal placenta, amni-
otic fluid index of 57cm, cephalic without fetal movement,
and cardiac activity; all features were suggestive of intrauter-
ine death with polyhydramnios. There was a spontaneous
expulsion of a single dead female fetus of 1.25kg with a pla-
centa weighing 150 grams with cyclopia with a proboscis.
Received: 2 March 2021
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Revised: 31 May 2021
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Accepted: 1 June 2021
DOI: 10.1002/ccr3.4466
CASE REPORT
Cyclopia with proboscis: A rare congenital anomaly
AsmaKunwar1
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Bibek ManShrestha2
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SurajShrestha2
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PoojaPaudyal1
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SunitiRawal1
This is an open access article under the terms of the Creat ive Commo ns Attri bution License, which permits use, distribution and reproduction in any medium, provided the original
work is properly cited.
© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
1Department of Obstetrics and
Gynecology, Tribhuvan University
Teaching Hospital, Kathmandu, Nepal
2Maharajgunj Medical Campus, Institute
of Medicine, Kathmandu, Nepal
Correspondence
Asma Kunwar, Department of Obstetrics
and Gynecology, Tribhuvan University
Teaching Hospital, Kathmandu, Nepal.
Email: asmakunwar521745@gmail.com
Funding information
No funding was required for the work
Abstract
Cyclopia with a proboscis, a rare congenital anomaly, and a severe form of holo-
prosencephaly occur as a result of incomplete separation of prosencephalon into two
halves of hemispheres during organogenesis. A prenatal anomaly scan can help in the
early detection of the condition and timely termination of the pregnancy.
KEYWORDS
congenital defects, cyclopia, holoprosencephaly, proboscis

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Also, the baby had a dysmorphic face with a single eye and
the nose was absent in normal position; however, a nonfunc-
tioning nose was present above the single eye (Figures1 and
2). There were no other gross congenital anomalies, and the
placenta was normal. Histological and biochemical evalua-
tions were not performed.
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DISCUSSION
A cyclopia with proboscis is a rare form of HPE with few
more cases reported worldwide.4– 7 To our knowledge, this
is the first case reported from our institution. Moreover, no
case of cyclopia with proboscis has been documented from
Nepal to date.
Alobar holoprosencephaly, as reported in this case, rep-
resents the most severe form and constitutes undifferenti-
ated cerebral hemispheres with monoventricles, a fusion of
thalamus, and other cranial midline abnormalities.8– 10Most
of the cases are sporadic and incompatible with life, and
the etiology of this condition remains largely unknown.11
However, various heterogeneous risk factors have been im-
plicated. The possible culprits include defective inheritance
and environmental factors.4 Genes affecting chromosomes
3 and 10, maternal exposure to teratogenic drugs (such as
salicylates, amidopyrine, corticosteroids, aspirin, lithium,
anticonvulsants, retinoic acid, anticancer agents), alcohol,
toxoplasmosis, rubella, cytomegalovirus, and herpes sim-
plex (TORCH) infections, ionic radiation, and maternal
diabetes are the notable risk factors in previously reported
cases.4,12– 14 As already mentioned, finding an etiologic re-
lation is very difficult in such conditions, mainly due to the
limited literature knowledge and our inability to reach the
patient's previous laboratory and medical reports, and lack
of other aforementioned risk factors, and the regular con-
sumption of alcohol might the associated factor for the fetal
anomaly in our case.
A high prevalence of chromosomal abnormalities (mainly
trisomy 13) and female predominance in HPE is found. The
baby with this abnormality generally gets naturally aborted or
is stillborn on delivery.15 Our fetus was not genetically tested
after the spontaneous expulsion.
Sonography is the most helpful in the prenatal diagnosis
of cyclopia, and in most of the reported cases, the anomaly
has been recognized early in the anomaly scan. This early
diagnosis by fetal ultrasonography allows for timely termina-
tion of pregnancy and avoids maternal psychological trauma
of giving birth to a deformed fetus.16,17 Additionally, fetal
MRI can help confirm the sonographic findings and detect
any other additional anomaly.18 However, in our case, the
woman never had any antenatal checkups and the anomaly
was diagnosed after the expulsion of the fetus.
Holoprosencephaly is managed supportively along with
other associated malformations treatment. Prognosis depends
on the degree of fusion and malformation of the brain and
other associated complications. Alobar and semilobar HPE
have the worst prognosis and are often incompatible with life.
However, with lobar HPE, a child can survive for some years
with neurological and mental challenges.19
This report emphasizes the need for awareness and educa-
tion about the importance of antenatal checkups and anom-
alous effects of alcohol to all women of reproductive age
groups, particularly in developing countries like Nepal. Our
patient was thoroughly counseled about the disease condition
FIGURE 1 Anomalous baby with normal placenta FIGURE 2 Single eye with proboscis above the eye

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and encouraged to take necessary steps in cessation of the
alcohol intake and avoid various risk factors.
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CONCLUSION
Cyclopia is a rare congenital anomaly. The importance of an
anomaly scan in the timely detection of anomalous babies
and preventing mothers from the psychological trauma of
carrying such fetus is to be stressed upon to decrease the suf-
fering of parents and family members.
ACKNOWLEDGEMENTS
None.
CONFLICTS OF INTEREST
None to declare.
AUTHORS CONTRIBUTION
AK, PP, BMS, and SS drafted the manuscript. AK, PP, and SR
were involved in editing and revising the manuscript. All the
authors read and approved the final version of the manuscript.
CONSENT FOR PUBLICATION
Written informed consent was obtained from the patient and
her husband for publication of this case report and images
of the baby. A copy of the written consent is available for
review by the Editor- in- Chief of this journal.
DATA AVAILABILITY STATEMENT
All the necessary data and information are within the article.
ORCID
Asma Kunwar https://orcid.org/0000-0002-7539-7618
Suraj Shrestha https://orcid.org/0000-0001-6888-260X
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How to cite this article: Kunwar A, Shrestha BM,
Shrestha S, Paudyal P, Rawal S. Cyclopia with
proboscis: A rare congenital anomaly. Clin Case Rep.
2021;9:e04466. https://doi.org/10.1002/ccr3.4466