A rare case report of frontoethmoidal encephalocele in a neonate

Abstract

Background
The protrusion of cranial contents via a skull defect is known as an encephalocele. Unlike western countries where occipital encephalocele dominates, anterior encephaloceles are the most common types of encephalocele in Southeast Asia, parts of Russia, and Central Africa. We present the clinical presentation and surgical management of an 8-day-old infant with frontoethmoidal encephalocele.

Case presentation
An 8-day-old neonate born to a 24-year-old mother with no antenatal follow-up was referred with a compliant of frontonasal swelling which was present since birth. Physical examination of the neonate revealed a cystic lobulated swelling over the upper edge of the nasal bridge. Computed tomography imaging showed an anterior skull defect, resulting in frontonasal meningoencephalocele. The patient underwent a one-stage operation, which combined nasal-coronal approach with frontal craniotomy, to remove the dysplastic tissue and reconstruct the defect. The patient had successful recovery period with acceptable cosmesis.

Conclusion
We presented a case of frontoethmoidal encephalocele, which is rare in western countries but whose incidence is relatively higher in African countries. Perinatal care is necessary for prevention and early detection of such cases. Direct surgical repair is still the main mode of intervention.

Full text

Kibruand Mogessie
Egyptian Journal of Neurosurgery (2023) 38:77
https://doi.org/10.1186/s41984-023-00256-3
CASE REPORT
A rare case report offrontoethmoidal
encephalocele inaneonate
Ermias Algawork Kibru1* and Yidnekachew Girma Mogessie2,3,4
Abstract
Background The protrusion of cranial contents via a skull defect is known as an encephalocele. Unlike western
countries where occipital encephalocele dominates, anterior encephaloceles are the most common types of enceph-
alocele in Southeast Asia, parts of Russia, and Central Africa. We present the clinical presentation and surgical manage-
ment of an 8-day-old infant with frontoethmoidal encephalocele.
Case presentation An 8-day-old neonate born to a 24-year-old mother with no antenatal follow-up was referred
with a compliant of frontonasal swelling which was present since birth. Physical examination of the neonate revealed
a cystic lobulated swelling over the upper edge of the nasal bridge. Computed tomography imaging showed an ante-
rior skull defect, resulting in frontonasal meningoencephalocele. The patient underwent a one-stage operation,
which combined nasal-coronal approach with frontal craniotomy, to remove the dysplastic tissue and reconstruct
the defect. The patient had successful recovery period with acceptable cosmesis.
Conclusion We presented a case of frontoethmoidal encephalocele, which is rare in western countries but whose
incidence is relatively higher in African countries. Perinatal care is necessary for prevention and early detection of such
cases. Direct surgical repair is still the main mode of intervention.
Keywords Encephalocele, Frontoethmoidal, Neural tube defects, Neonatal neurology, Neurosurgery, Surgical
neonate
Introduction
Encephalocele is described as the displacement of cra-
nial contents out of the skull’s normal boundaries. It
may include meninges alone (meningocele), meninges
plus brain tissue (meningoencephalocele) or it may be
linked to the ventricles (meningoencephalocystocele) [1].
Encephaloceles are divided into four groups: basal, occip-
ital, sincipital (anterior), and convexity [2]
Researches indicate that one out of every 5000 to
10,000 newborn is born with encephalocele [3–5]. e
occurrence of certain kinds of encephalocele is different
depending on what part of the world you are in and the
ethnicity of the person affected. In Central Africa, South-
east Asia, and some regions of Russia, anterior encepha-
loceles are the most prevalent type of encephaloceles
found, occurring in up to 1 in 3500 live births. By com-
parison, an anterior encephalocele is a much rarer occur-
rence, with just 1 out of every 35,000 live births in North
America, while occipital encephaloceles makes up the
vast majority of cases, representing 85% of occurrences
[6]. According to meta-analysis done by Paddy Ssen-
tongo etal., the region of East Africa has one of the high-
est rates of neural tube defect worldwide, with Ethiopia
being one of the worst affected [7].
It is believed that the development of encephalocele
is due to a combination of genetic and environmental
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Egyptian Journal
of Neurosurgery
*Correspondence:
Ermias Algawork Kibru
ealgawork@gmail.com
1 College of Health Science, Addis Ababa University, Addis Ababa,
Ethiopia
2 Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
3 Johns Hopkins Carey Business School, Baltimore, MD, USA
4 St. Paul’s Hospital Millennium Medical College, Addis Ababa, Ethiopia

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Kibruand Mogessie Egyptian Journal of Neurosurgery (2023) 38:77
elements, such as illnesses experienced by the mother,
medications taken, or a lack of vitamin B12, folic acid,
or minerals in the first three months of pregnancy [8].
Folic acid supplementation and fortification are proven
to decrease incidence of neural tube defects in infants [9,
10].
A CT scan is the best diagnostic tool to look for both
internal and external bone abnormalities. MRI can be
utilized to reveal the contents of the encephalocele and
identify other irregularities in the brain [11]. Surgi-
cal repair of the encephalocele is the primary mode of
treatment [12]. e objectives of the surgical procedure
include: removal of non-functional herniated brain tis-
sue, ensuring a secure closure of the dura, taking precau-
tionary measures to prevent any tearing of the delicate
sac, and averting any possible complications such as
infection, bleeding, and leakage of cerebrospinal fluid, as
well as reconstructing the cranium and facial features in
order to achieve an aesthetically pleasing outcome [13].
e clinical presentation and management of an 8-day-
old female neonate with frontonasal encephalocele are
described in this case report.
Case presentation
Patient information
is is an 8-day-old Ethiopian female neonate presented
with a frontonasal swelling since birth. She was born
after 8months of amenorrhea to a 24 year oldPara III
mother. Mother lives in the country side, where access to
a healthcare facility is limited. She did not have an ANC
follow-up. She did not take iron-folate supplementa-
tion, which is given to all pregnant women in Ethiopia
during their antenatal follow-up. Otherwise, there is no
maternal history of medical illness, drug usage, or giving
birth to a child with a similar abnormality.
Clinical ndings
Delivery was at local health center via spontaneous vagi-
nal delivery to effect the delivery of 2200gm alive female
neonate. e neonate cried immediately after birth. Neo-
nate was referred to Zewditu Memorial Hospital with the
compliant of swelling over the forehead since birth. ere
is no history of fever, abnormal body movement, or leak-
age from the swelling.
Upon examination, the neonate was active with stable
vital signs. e occipitofrontal circumference was 35cm.
A 6 by 4cm soft, cystic lobulated swelling between the
eye globes over the upper tip of the nasal bridge was pre-
sent. e neonate was awake and alert, with complete
moro, sustained sucking, and strong grasp reflexes. She
moved all her extremities. e pupils were mid-sized and
reactive bilaterally. ere was no spinal deformity.
Diagnostic assessment
Complete blood count, serum electrolyte, liver enzymes,
bilirubin level, creatinine level, coagulation profile were
all within normal range. Computed tomography showed
an anterior basal skull defect associated with bilateral
medial frontal lobe encephalocele and associated cystic
structures, suggesting large frontonasal meningoenceph-
alocele (Fig.1).
Therapeutic intervention
Under general anesthesia, patient in supine position,
bifrontal skin flap was raised and craniotomy was done.
Extradural dissection of the encephalocele was done, and
the defect was identified. en, dura was opened and
Fig. 1 A Coronal and B sagittal CT scans of the brain showing an isodense lesion with defect on the anterior basal skull

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Kibruand Mogessie Egyptian Journal of Neurosurgery (2023) 38:77
dissection was undertaken till the base of the defect is
identified. e external swelling was dissected circum-
ferentially, separating the dysplastic tissue from the skin.
Dysplastic tissue was cauterized and removed. A split
calvarial bone graft was used for defect construction.
en, dura was closed with water tight closure. Finally
bone was replaced and fixed. Skin was closed in 2 lay-
ers after leaving epidural drain. e plastic surgery team
closed the external wound of the encephalocele with pri-
mary closure (Fig.2).
Follow‑up andoutcome
Antibiotics were given for 5 days. She had a smooth
postoperative recovery period. She was discharged with
follow-up to the neurosurgery clinic with acceptable cos-
mesis to the parents.
Discussion
An extrusion of the skull contents outside the skull
through a herniated sac is known as an encephalocele
[12]. Occipital, basal, convexity, and sincipital (ante-
rior) encephaloceles are the subcategories into which
encephaloceles are divided [2]. Suwanwela and Suwan-
wela have further divided the sincipital group into three
types, which include frontoethmoidal encephaloceles,
interfrontal encephaloceles, and those encephaloceles
that are associated with craniofacial clefts. A protrusion
of the contents of the skull through a breach at the point
where the frontal and ethmoidal bones meet is referred
to as a frontoethmoidal encephalocele. Frontoethmoidal
encephalocele can be divided further into three distinct
categories: nasofrontal, nasoethmoidal, and nasoorbital
[1].
According to different studies, encephalocele occurs in
1 in 5,000 to 10,000 live births [3–5]. In one systematic
review and meta-analysis carried out in Africa, it was
shown that there was a significant variation in the preva-
lence of encephalocele in various African countries. High
birth prevalence of encephalocele was found in Ethiopia
(0.02%) among with others [14]. In Southeast Asia, some
regions of Russia, and Central Africa, anterior encepha-
loceles are the most prevalent type of encephaloceles
found, occurring in up to 1 in 3,500 live births [6].
Many theories have been postulated for the develop-
ment of an anterior encephalocele [15]:
An initial bone defect results in the failure of the
ethmoidal plate to enclose around the olfactory nerve
eventually leading to herniation of the brain.
High pressure in the embryo’s ventricles which might
push the growing brain through the bone structures that
are not yet fully formed.
e theory suggested by Jeffrey-Saint Hillaire (most
accepted): "e skull is made up of two parts, the endo-
chondral skull base and the intramembranous skull top."
When the baby is born, the frontal and ethmoid bones
are held together, but at three months of gestation, they
are apart. us, a vulnerable area occurs between the
frontal and ethmoid bones and that a congenital abnor-
mality could cause a herniated encephalocele.
e uncommon encephaloceles which appear through
the sphenoid bone may be due to a persistent crani-
opharyngeal canal and extrusion of brain matter or
meninges through it.
e sphenoid bone’s inability to form the appropriate
ossification centers could also be taken into considera-
tion as a possible origin for encephaloceles in this area.
Encephalocele development is alsothought to be influ-
enced by both genetic and environmental risk factors,
includingmaternal illnesses, drugs consumed, or inad-
equate vitamin B12, folic acid, or mineral supplements
during the first trimester of pregnancy [8]
In most cases, the diagnosis is clinical. e diagnosis
is frequently clear, particularly when there is clinically or
palpably detectable cerebral pulsation. e size and loca-
tion of the cranial defect through which the herniation
passes can be determined using plainradiographs of the
skull and face. Encephaloceles canfrequently belinked to
other disorders of the central nervous system, including
Fig. 2 Fourth postoperative day

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Kibruand Mogessie Egyptian Journal of Neurosurgery (2023) 38:77
hydrocephalus. Although CT scans with the proper brain
windows and three-dimensional reconstruction provide
the greatest assessment of the diagnosis and disease anat-
omy, ultrasound may be useful in estimating the size of
the ventricle [16].
An inter-disciplinary approach is the best way to man-
age these abnormalities [17]. If there is no CSF leak asso-
ciated with the encephalocele, treatment can be elective.
However, a crucial treatment factor to take into account
is the encephalocele mass’s possible impact on the
growth of the craniofacial bone, which could necessitate
earlier intervention. e primary mode of intervention is
direct surgical repair [12].
In the past, the surgical treatment of encephalocele
involved a two-step method, beginning with severance
of the connection inside the cranium and followed by
reshaping of the deformed face [18]. In a recently devel-
oped one-stage operation, combined nasal-coronal
approach with frontal craniotomy is done. By employing
this procedure, it is possible to reshape the frontal bone
flap by eliminating the trigonocephalic protuberance,
addressing any external skull deformities, and restor-
ing an attractive appearance with the potential for nasal
enhancement [19].
e objectives of the surgical procedure include:
removal of non-functional herniated brain tissue, ensur-
ing a secure closure of the dura, taking precautionary
measures to prevent any tearing of the delicate sac, and
averting any possible complications such as infection,
bleeding, and leakage of cerebrospinal fluid, as well as
reconstructing the cranium and facial features in order to
achieve an aesthetically pleasing outcome [13]. e loca-
tion, size, composition, and presence of any additional
congenital anomalies all affect the prognosis. Compared
to posterior encephalocele (55%), where a critical brain
parenchymal structure may have herniated through the
skull defect, the survival rate in anterior encephalocele is
higher, approaching 100% [20].
Conclusion
A congenital or acquired condition,an encephalocele,is
described as the herniation of brain matter through a
hole in the skull. In Africa, the incidence of encepha-
locele at birth is comparably high. Ethiopia is one of the
countries with a very high burden of neural tube defects.
Interventions including folic acid fortification and sup-
plementation,and preconception evaluation are needed
to be implemented to tackle this high level of neural
tube defect prevlance. e management of patients
with encephalocele requires multidisciplinary team
participation.
Abbreviations
ANC Antenatal care
CT Computed tomography
MRI Magnetic resonance imaging
Acknowledgements
Not applicable
Author contributions
Both authors participated in the writing of the final manuscript.
Funding
No funding was required for this work.
Availability of data and materials
Not applicable.
Declarations
Ethics approval and consent to participate
Not applicable.
Consent for publication
Patient’s parent has provided informed written consent to publish the case
report with any accompanying images.
Competing interests
The author reports no conflicts of interest in this work.
Received: 6 May 2023 Accepted: 22 July 2023
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