A rare case of occipital encephalocele presenting as the largest congenital head mass in an infant

Abstract

Background
The prevalence of encephalocele is estimated to be 0.8-5.0 per 10,000 live births. The most frequent encephalocele is the occipital encephalocele. It is a congenital neural tube defect characterized by the protrusion or herniation of intracranial contents through a cranial defect. The term "giant/massive/large encephalocele" is used to describe an encephalocele that is significantly larger than the size of the head.
Case description
A 2-month-old male infant presented in the neurosurgery outpatient department with one of the largest head masses over the posterior aspect since birth. The swelling was gradually progressive and developed ulceration over the swelling with intermittent cerebrospinal fluid (CSF) discharge but no associated weakness in limbs. Magnetic Resonance Imaging (MRI) brain showed a large occipital meningoencephalocele containing predominantly cyst with part of the cerebellar and occipital lobe. The surgery was planned. The sac contained CSF with the gliotic occipital lobe. The sac and gliotic brain tissue was excised. He had an uneventful postoperative course.
Conclusion
Surgery serves several functions, including reducing the torque and weight of the head to allow for more normal motor development, removal of the thin, leaking scalp and dural closure to prevent CSF leak and subsequent infection, and improving the cosmetic and social issues that the child and family may have to endure.

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Child's Nervous System
https://doi.org/10.1007/s00381-023-06085-x
CASE REPORT
A rare case ofoccipital encephalocele presenting asthelargest
congenital head mass inaninfant
AnandKumarDas1 · SarajKumarSingh1
Received: 17 June 2023 / Accepted: 15 July 2023
© The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2023
Abstract
Background The prevalence of encephalocele is estimated to be 0.8–5.0 per 10,000 live births. The most frequent encepha-
locele is the occipital encephalocele. It is a congenital neural tube defect characterized by the protrusion or herniation of
intracranial contents through a cranial defect. The term “giant/massive/large encephalocele” is used to describe an encepha-
locele that is significantly larger than the size of the head.
Case description A 2-month-old male infant presented in the neurosurgery outpatient department with one of the largest head
masses over the posterior aspect since birth. The swelling was gradually progressive and developed ulceration over the swell-
ing with intermittent cerebrospinal fluid (CSF) discharge but no associated weakness in limbs. Magnetic Resonance Imaging
(MRI) brain showed a large occipital meningoencephalocele containing predominantly cyst with part of the cerebellar and
occipital lobe. The surgery was planned. The sac contained CSF with the gliotic occipital lobe. The sac and gliotic brain tissue
was excised. He had an uneventful postoperative course.
Conclusion Surgery serves several functions, including reducing the torque and weight of the head to allow for more normal
motor development, removal of the thin, leaking scalp and dural closure to prevent CSF leak and subsequent infection, and
improving the cosmetic and social issues that the child and family may have to endure.
Keywords Encephalocele· Neural tube defect· Infant
The prevalence of encephalocele is estimated to be 0.8–5.0
per 10,000 live births. The most frequent encephalocele
is the occipital encephalocele [1]. It is a congenital neural
tube defect characterized by the protrusion or herniation of
intracranial contents (meninges, brain, and a portion of the
ventricles) through a cranial defect. Failure of the develop-
ing neural tube’s cranial portion to close during the first
few weeks of fetal life results in encephalocele. The term
“giant/massive/large encephalocele” is used to describe an
encephalocele that is significantly larger than the size of
the head. Due to its rarity, giant occipital encephalocele is
mostly discussed in case reports [2].
A 2-month-old male infant presented in the neurosurgery
outpatient department with one of the largest head masses
over the posterior aspect since birth. Cesarean section was
used to deliver the baby at full term. The swelling was gradu-
ally progressive and developed ulceration over the swelling
with intermittent CSF discharge but no associated weakness
in limbs. On examination, it showed a 18cm × 12cm × 10cm
large globular swelling over the occipital region with an
ulcerated surface (Fig.1 a–d). The consistency was smooth,
cystic, fluctuant, and used to become prominent on crying.
However, no evidence of bruit or murmur over the swelling
was noted. MRI brain showed a large occipital meningoen-
cephalocele containing predominantly cyst with part of the
cerebellar and occipital lobe (Fig.2a).
He was operated in the lateral position as the prone posi-
tion led to decreased oxygen saturation. The baby was well-
wrapped with cotton to prevent hypothermia. An elliptical skin
incision was placed over the swelling. The flap was raised, and
the meningeal sac was opened. The sac contained CSF with
the gliotic occipital lobe. The sac and gliotic brain tissue was
excised. At each surgical step, hemostasis was strictly main-
tained as the small amount of blood loss could be significant
in causing severe anemia. The bone defect was identified, and
the redundant dura was closed. Skin closure was done in lay-
ers (Fig.2 b–d). He had an uneventful postoperative course.
* Saraj Kumar Singh
dr.sarajkumarsingh@gmail.com
Anand Kumar Das
dranand0822@gmail.com
1 Department ofNeurosurgery, All India Institute ofMedical
Sciences, Patna, Bihar801507, India

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Challenges encountered andways toovercome
Antenatal period
• If anencephalocele is diagnosedduring the antenatal
examination, the expecting mother should have a caesar-
ian section performed instead of trying labor induction
because uncontrolled bleeding into the encephalocele sac
could cause it to grow very quickly and raise intracranial
pressure, which could have life-threatening effects [3].
Anesthetic
• Anesthetists face challenges with regard to proper posi-
tioning, endotracheal intubation, monitoring of tempera-
ture, and estimation of blood and fluid loss.
• There is a risk of rupture of the sac leading to sud-
den unpredictable third space volume loss. Therefore,
endotracheal intubation can be performed by extending
the patient’s head beyond the operating table’s edge while
being supported by the hand.
• Alternative methods involve placing the sac within a
cushioned head ring and adopting fiber-optic intubation.
• To make endotracheal intubation easier, partial aspiration
of CSF fluid is another possibility for decreasing the size
of the encephalocele.
• Volume and electrolyte imbalances are frequent second-
ary effects of the removal of a significant amount of CSF,
and they must be carefully addressed.
Intra‑operative
• A transverse incision is the best option for a spheri-
cal encephalocele with a minor occipital bone defect.
Patients with encephaloceles that extend above and
below the posterior fossa require a vertical incision [3].
• The potential risk of blood loss, hypothermia, coagulopa-
thy, and electrolyte disturbancesfrom substantial shifts
in the fluid is exacerbated by the small systemic blood
volume of the infant. Therefore, the surgeon should stay
in the dysplastic subcutaneous plane outside the neural
tissue to minimize blood loss [4].
• The contents of the sac must be carefully identified.
There are very few instances in which the torcula can
Fig. 1 a–d The maximum
size (18 × 12 × 10cm) of giant
occipital encephalocele in all
dimensions

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be found in close proximity to the sac. The possibility
of returning torcula and any residual viable tissue should
be considered [5].
• Dysplastic neural tissue might be truncated or rein-
ternalized into the cranium. In giant variety, due to
thelarge volume of tissue involved, reinternaliza-
tionbecomes exceedingly a challenge. In order to
accommodate this volume and prevent a rise inintrac-
ranial pressure, groups attempting to reinternalize the
dysplastic tissue in these situations have reported con-
ducting concurrent cranial vault expansion [4].
• Reinternalization of the dysplastic brain tissue has
uncertain benefits and potential drawbacks, andit can
require a more sophisticated, riskier operation. The
content of encephalocele sac is liable to be removed
without the risk of causing additional neurological
abnormalities because they are gliotic tissues that may
represent meningeal fibrosis [6].
• The dura is thoroughly repaired to ensure a water-tight
closure. Repairing the dural defect with a graft from the
pericranium is possible.
• There should be no attempt to use a bone graft to cover
the bone defect in newborns. When the osteogenic
potential of dura is extrapolated to growing children,
the need for cranioplasty for defects in the skull bone
is eliminated [7, 8]. The redundant skin flap should
be excised before closure. But it should have adequate
thickness over the bone defect to ensure good healing.
Postoperative
• Although procedures like expansile cranioplasty and
craniectomy can be used to preventelevations in
intracranial pressure, doing so requires a careful bal-
ancebetween many factors, as even slight variations
in intracranial pressure in infants may result in adverse
events like unexpected cardiorespiratory arrest.
• Patients need to be monitored forintracranial hyper-
tension, hypothermia,apnea, cerebrospinal fluid leak,
and infection.
• Hydrocephalus that has not resolved or is newly devel-
opedrequires the placement of a cerebrospinal fluid
shunt as soon as possible.
• Avoid the prolonged supine position to ensure complete
healing of the wound flap.
Fig. 2 a Sagittal view of
MRI brain showing menin-
goencephalocele through the
midline occipital bone defect
(1.7 × 1.8cm) containing the
part of cerebellar hemisphere
and bilateral occipital lobes. b
Redundant skin, sac, and gliotic
occipital lobe was excised and
neck of the sac closed with
proline sutures. c Sutured skin
flap over the defect. d Excised
specimen containing sac and
gliotic occipital lobe tissues

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Conclusion
The giant occipital encephalocele is a challenging entity
that calls for a multidisciplinary approach. The success
of the surgery remains dependent on the extent ofhealthy
brain tissuepreserved within the skull. Surgery serves
several functions, including reducing the torque and
weight of the head to allow for more normal motor devel-
opment; removal of the thin, leaking scalp and dural clo-
sure to prevent CSF leak and subsequent infection; and
improving the cosmetic and social issues that the child
and family may have to endure.
Acknowledgements The authors acknowledge all professors and
consultants in the Department of Neurosurgery for the guidance
and assistance.
Author contribution Anand Kumar Das and Saraj Kumar Singh con-
tributed equally to the manuscript preparation. The first draft of the
manuscript was written by Anand Kumar Das. Both authors com-
mented on previous versions of the manuscript. Both authors read and
approved the final manuscript.
Declarations
Ethical approval Not required.
Consent to participate Written informed consent was obtained from
the parents for the publication of images.
Conflict of interest All authors certify that they have no affiliations
with or involvement in any organization or entity with any financial
interest or non-financial interest in the subject matter or materials dis-
cussed in this manuscript.
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