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Nigerian J Paediatrics 2017 vol 44 issue 1

Nigerian J Paediatrics 2017 vol 44 issue 1

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Frontonasal encephalocele with bilateral congenital microblepharon A case report
Niger J Paediatr 2017; 44 (4): 193 195
CASE REPORT
Ochoga MO
CC BY
Frontonasal encephalocele with
Abah RO
Idoko A
bilateral congenital microble-
Obande JO
pharon: A case report
DOI:http://dx.doi.org/10.4314/njp.v44i4.5
Accepted: 22nd September 2017
Abstract : : A six-day old term
tween the globe and the mass.
neonate was born with a frontona-
Ventricular systems were grossly
Ochoga MO (
)
sal ulcerated discharging mass
dilated and distorted (lateral and
3
rd
ventricles). However, the 4
th
Abah RO, Idoko A
with purulent fluid but no cere-
Department of Paediatrics, Benue
brospinal fluid. The left eye
ventricle was normal.We present a
State University/Benue State
socket was empty and there was
patient with an unusual constella-
University Teaching Hospital,
bilateral microblepharon. Com-
tion of clinical and radiologic fin-
Makurdi
puterized
tomography
scan
dings that have not been, hitherto
Email: omoochoga@yahoo.com
showed irregular shaped soft tis-
described.
sue mass, the same density as the
Obande JO
brain tissue, continuous with the
Key words: Frontonasal, encepha-
Division of Neurosurgery,
frontal lobe and associated defect
locele, neural tube defect, midline
Department of Surgery, University
of frontal bone/nasium. The mass
defects, microblepharon.
of Abuja, Teaching Hospital,
displaced the left globe inferiorly
Gwagwalada-Abuja
but there was a demarcation be-
Introduction
medication. There was no history of vaginal discharge.
The mother did not have any febrile illness or rash
The development of the frontonasal region is complex.
during pregnancy. Delivery at home was spontaneous
Aberrant embryogenesis leads to three main types of
vaginal. Membrane ruptured one hour prior to delivery.
anomalies: nasal dermal sinus, anterior encephalocele
The baby was on breast milk only. The baby was the
and nasal glioma. Knowledge of the developmental
second of two children in the family. Mother was a 20-
anatomy of the anterior neuropore and postnatal matura-
year old junior secondary school certificate of education
tion will assist the radiologist well when it comes to
holder and father a 23-year old farmer with senior
imaging frontonasal masses.
1,2
Nasofrontal midline
secondary school certificatewith no history suggestive of
masses are uncommon, with an incidence of one in
consanguineous marriage. There was no history of illicit
20,000 to 40,000 live births in America.
[3]
These masses
drug use by the mother or the father.
originate from the nervous system as a result of embryo-
There was no history of miscarriages, congenital anoma-
logic maldevelopment and frequently have intracranial
lies or neurologic defects in the family. Physical exami-
connections. Although they may be adjacent to the mid-
nation revealed a mass at the base of the nasal bridge
line, they are still referred to as midline naso frontal
measuring 5cm by 5cm, non-tender, freely mobile with
masses. Correct and prompt diagnosis is important in
excoriation on the surface, areas of necrosis and ulcera-
order to prevent complications and provide accurate
tion, discharging purulent and serous fluid. The left eye
long-term prognosis. To the best of our knowledge the
orbit was empty, with bilateral microblepharon. (Fig 1).
association of fronto nasal encephalocele, holoprosen-
cephaly and microblepharon have not been reported in
the literatures.
Fig 1: Showing the frontonasal
protrusion on admission
We report one case of frontonasal encephalocele with
background holoprosencephaly, bilateral microble-
pharon and anophthalmia which presented with radio-
logical diagnostic dilemma.
Case Report
Fig 2: Showing the Patient after
surgery
A six- day old male term neonate with a weight of
2100g delivered by a 20-year-old healthy Nigerian Para
2
+ 0
2 alive. She received no antenatal care and no
history suggestive of abnormal liquor volume was
established. However, the mother denied using herbal
194
There was no exophthalmos or hypertelorism. The right
mon in Thailand, Malaysia, and Indonesia than in
Europe or the United states. In series reported from
2,3
eye reacts to light and cornea was clear. Anterior cham-
ber had normal depth and pupil was reactive. There were
Africa, occipital encephaloceles are more common than
no other malformations or abnormal findings. Systemic
frontal encephaloceles, except in South Africa where
they enjoy equal distribution. Congenital midline
4
examination was normal.
The cranial computerized tomography (CT Scan) (Fig 3
masses, particularly encephaloceles, may lead to cos-
and 4) showed a frontonasal protrusion with grossly
metic or infectious complications because of intracranial
dilated and distorted lateral and 3 ventricles. Normal
rd
connections. Most complications can be avoided if le-
sions are treated successfully by early surgery.
2,5
cerebral architectural differentiation into lobes was not
In
distinctly discernable. Patient had craniotomy, excision,
cases of encephaloceles, early excision is imperative to
duroplasty and repair on the 11
th
day on admission
promote normal facial growth. The neurodevelopmental
(figure 2). Our patient had no intraoperative haemor-
outcome after resection is generally good. Hypertelorism
rhage and recovered appreciably from anaesthesia. How-
was not present in our patient; this is at variance with
ever, the child died twenty-five hours after surgery. No
the finding by Obande et al where their patient had pan-
craniosynostosis and phenotypic syndromic facies.
6
autopsy was obtained and cause of death could not be
determined.
There are known genetic and environmental factors as-
Fig 3: Cranial CT scan
sociated with their geographic occurrence of encephalo-
showing frontonasal pro-
cele, such as maternal diabetes mellitus, alcohol use as
trusion with associated
well as use of teratogenic retinoic acid. Genetic studies
3
defect of frontal bone
were not conducted in our patient due to lack of facili-
ties. There are reports of association of encephalocele
with trisomies. Sometimes there may be associated
7,8
cerebrospinal fluid (CSF) rhinorrhea, though this was
not present in our patient.
Surgery was performed where the patient had craniot-
Fig 4: Cranial CT scan
omy, excision, duroplasty and repair. These procedure
[9]
showing dilated ventricu-
lar systems and distorted
corrected the frontonasal encephalocele. Our patient had
lateral and 3 ventricles),
rd
extensive procedure, good anaesthesia, and adequate
the 4 ventricle is normal
th
surgical haemostasis but the procedure was not well
tolerated by the neonate. The patient had three apneic
attacks after surgery and never really recovered from the
effect of surgery and anaesthesia. He eventually died 25
hours after surgery.
The mass was already infected (fig 1) when the patient
presented at the hospital. The outcome of the patient
Discussion
may have been adversely affected by delayed presenta-
tion and poverty. The outcome of cases like this can be
The occurrence of a frontonasal encephalocele, bilateral
improved with universal access to the National Health
microblepharon, anophthalmia and holoprosencephaly is
Insurance schemes which makes health care affordable.
rare and have not been described in the literature, to our
MRI and genetic studies would have assisted with fur-
ther evaluation of the patient.
10
knowledge. Various syndromes have been described,
including the Barber Say syndrome, Ablepharon-
Macrostomia,but none involving intracranial anomalies,
suggesting that the spectrum presented by our patient
may represent an association or syndrome yet to be elu-
Conclusion
cidated. Genetic studies would have been very helpful in
this regard,but our capacity in this regard is limited.
A frontonasal mass in a new born may present a difficult
diagnostic problem because these are rare anomalies.
A frontonasal mass in a newborn infant may present a
Our patient presented with an unusual constellation of
difficult diagnostic problem.
2,3
Clinical diagnosis of
clinical and radiologic findings that have not been, hith-
presentation of a frontonasal mass does not constitute a
erto described in association. The relative significance
dilemma but when it occurs in the setting of other multi-
of these impressive compromise of neuro-ectodermal
ple anomalies, then, it becomes a problem, as in our
features is unknown to us at the moment.
index case which did not fit into any known syndrome
or association. Further more describing the Computer-
ized Tomographic images and making a distinct diagno-
Conflict of interest: None
sis was equally difficult radiologically (compare figures
Funding: None
3 and 4). A correct diagnosis is important in order to
formulate an accurate prognosis and consider appropri-
ate surgery. Nasofrontal encephaloceles are more com-
195
Acknowledgements
The authors wish to thank Drs Vincent Moghalu and
Bartholomew Ijiko for their contributions in getting the
necessary
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