Nigerian Journal of Paediatrics

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

ventricles). However, the 4

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

+ 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

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

connections. Most complications can be avoided if le-

sions are treated successfully by early surgery.

2,5

cerebral architectural differentiation into lobes was not

distinctly discernable. Patient had craniotomy, excision,

cases of encephaloceles, early excision is imperative to

duroplasty and repair on the 11

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.

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

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),

extensive procedure, good anaesthesia, and adequate

the 4 ventricle is normal

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.

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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