Niger J Paediatr 2018; 45 (3): 171 – 173
Frontonasal encephalocele with bi-
lateral congenital microblepharon:
A case report
Accepted: 22nd September 2018
Ventricular systems were grossly
neonate was born with a frontona-
dilated and distorted (lateral and
sal ulcerated discharging mass
ventricles). However, the 4
Abah RO, Idoko A
with purulent fluid but no cere-
ventricle was normal.We present a
Department of Paediatrics,
brospinal fluid. The left eye
patient with an unusual constella-
Benue State University Teaching
socket was empty and there was
tion of clinical and radiologic fin-
bilateral microblepharon. Com-
dings that have not been, hitherto
showed irregular shaped soft tis-
mass, the same density as the
Key words: Frontonasal,
Division of Neurosurgery,
brain tissue, continuous with the
locele, neural tube defect, midline
Department of Surgery,
frontal lobe and associated defect
University of Abuja
frontal bone/nasium. The mass
displaced the left globe inferiorly
but there was a demarcation be-
tween the globe and the mass.
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.
secondary school certificate with no history suggestive
masses are uncommon, with an incidence of one in
consanguineous marriage. There was no history of
20,000 to 40,000 live births in America.
illicit drug use by the mother or the father.
originate from the nervous system as a result of embryo-
logic maldevelopment and frequently have intracranial
There was no history of miscarriages, congenital anoma-
connections. Although they may be adjacent to the mid-
lies or neurologic defects in the family. Physical exami-
line, they are still referred to as midline naso frontal
nation revealed a mass at the base of the nasal bridge
masses. Correct and prompt diagnosis is important in
measuring 5cm by 5cm, non-tender, freely mobile with
order to prevent complications and provide accurate
excoriation on the surface, areas of necrosis and ulcera-
long-term prognosis. To the best of our knowledge the
tion, discharging purulent and serous fluid. The left eye
association of fronto nasal encephalocele, holoprosen-
orbit was empty, with bilateral microblepharon. (Fig 1).
cephaly and microblepharon have not been reported in
There was no exophthalmos or hypertelorism. The right
eye reacts to light and cornea was clear. Anterior cham-
ber had normal depth and pupil was reactive. There were
report one case of frontonasal encephalocele with
other malformations or abnormal findings. Systemic
examination was normal.
pharon and anophthalmia which presented with radio-
logical diagnostic dilemma.
Fig 1: Showing
sion on admission
six- day old male term neonate with a weight of
2100gram delivered by a 20-year-old healthy Nigerian
alive. She received no antenatal care and no
history suggestive of abnormal liquor volume was
established. However, the mother denied using herbal
Fig 2: Showing
index case which did not fit into any known syndrome
Patient after surgery
association. Further more describing the Computer-
ized Tomographic images and making a distinct diagno-
sis was equally difficult radiologically (compare figures
and 4). A correct diagnosis is important in order to
formulate an accurate prognosis and consider appropri-
ate surgery. Nasofrontal encephaloceles are more com-
mon in Thailand.
Malaysia, and Indonesia than in Europe or the United
states. In series reported from Africa, occipital en-
The cranial computerized tomography (CT Scan) (Fig 3
cephaloceles are more common than frontal encephalo-
and 4) showed a frontonasal protrusion with grossly
celes, except in South Africa where they enjoy equal
dilated and distorted lateral and 3 ventricles. Normal
distribution Congenital midline masses, particularly
cerebral architectural differentiation into lobes was not
encephaloceles, may lead to cosmetic or infectious com-
distinctly discernable. Patient had craniotomy, excision,
plications because of intracranial connections. Most
duroplasty and repair on the 11 day on admission (fig
complications can be avoided if lesions are treated suc-
2). Our patient had no intraoperative haemorrhage and
cessfully by early surgery.
cases of encephaloceles,
recovered appreciably from anaesthesia. However, the
early excision is imperative to promote normal facial
child died twenty-five hours after surgery. No autopsy
growth. The neurodevelopmental outcome after resec-
was obtained and cause of death could not be deter-
tion is generally good. Hypertelorism was not present in
patient; this is at variance with the finding by
Obande et al where their patient had pancraniosynostosis
Fig 3: Cranial
and phenotypic syndromic facies.
showing frontonasal pro-
trusion with associated
defect of frontal bone
There are known genetic and environmental factors as-
sociated with the geographic occurrence of encephalo-
cele, such as maternal diabetes mellitus, alcohol use as
well as use of teratogenic retinoic acid. Genetic studies
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
cerebrospinal fluid (CSF) rhinorrhea, though this was
not present in our patient.
Fig 4: Cranial
showing dilated ven-
tricular systems and
Surgery was performed where the patient had craniot-
omy, excision, duroplasty and repair. These procedure
distorted lateral and 3rd
ventricles), the 4th
corrected the frontonasal encephalocele. Our patient had
ventricle is normal.
extensive procedure, good anaesthesia, and adequate
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 (figure 1) when the pa-
tient presented at the hospital. The outcome of the pa-
tient may have been adversely affected by delayed pres-
The occurrence of a frontonasal encephalocele, bilateral
entation and poverty. The outcome of cases like this can
microblepharon, anophthalmia and holoprosencephaly is
improved with universal access to the National
rare and have not been described in the literature, to our
Health Insurance schemes which makes health care af-
knowledge. Various syndromes have been described,
fordable. MRI and genetic studies would have assisted
with further evaluation of the patient.
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-
cidated. Genetic studies would have been very helpful in
this regard, but our capacity in this regard is limited.
frontonasal mass in a newborn infant may present a
frontonasal mass in a new born may present a difficult
difficult diagnostic problem.
Clinical diagnosis of
diagnostic problem because these are rare anomalies.
presentation of a frontonasal mass does not constitute a
patient presented with an unusual constellation of
dilemma but when it occurs in the setting of other multi-
clinical and radiologic findings that have not been, hith-
anomalies, then, it becomes a problem, as in our
described in association. The relative significance
these impressive compromise of neuro-ectodermal
features is unknown to us at the moment.
The authors wish to thank Dr Vincent and Bartholomew
Conflict of interest: None
Ijiko for their contributions in getting the necessary
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