Nigerian Journal of Paediatrics

Frontonasal encephalocele with bilateral congenital microblepharon A case report

Niger J Paediatr 2018; 45 (3): 171 – 173

CASE REPORT

Ochoga MO

CC – BY Frontonasal encephalocele with bi-

Abah RO

Idoko A

lateral congenital microblepharon:

Obande JO

A case report

DOI:http://dx.doi.org/10.4314/njp.v45i3.6

Accepted: 22nd September 2018

Abstract : A six-day old term

Ventricular systems were grossly

neonate was born with a frontona-

dilated and distorted (lateral and

Ochoga MO

(

)

sal ulcerated discharging mass

3^rd

ventricles). However, the 4^th

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-

Hospital, Makurdi

bilateral microblepharon. Com-

dings that have not been, hitherto

Email: omoochoga@yahoo.com

puterized

tomography

scan

described.

showed irregular shaped soft tis-

Obande JO

sue mass, the same density as the

Key words: Frontonasal, encepha-

Division of Neurosurgery,

brain tissue, continuous with the

locele, neural tube defect, midline

Department of Surgery,

frontal lobe and associated defect

defects, microblepharon.

University of Abuja

of frontal bone/nasium. The mass

Teaching Hospital,

displaced the left globe inferiorly

Gwagwalada-Abuja Nigeria

but there was a demarcation be-

tween the globe and the mass.

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 certificate with no history suggestive

masses are uncommon, with an incidence of one in

of consanguineous marriage. There was no history of

20,000 to 40,000 live births in America.

[3]

These masses

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

the literatures.

eye reacts to light and cornea was clear. Anterior cham-

ber had normal depth and pupil was reactive. There were

We report one case of frontonasal encephalocele with

no other malformations or abnormal findings. Systemic

background

holoprosencephaly,

bilateral

microble-

examination was normal.

pharon and anophthalmia which presented with radio-

logical diagnostic dilemma.

Fig 1: Showing the

frontonasal protru-

Case Report

sion on admission

A six- day old male term neonate with a weight of

2100gram 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

172

Fig 2: Showing the

index case which did not fit into any known syndrome

Patient after surgery

or association. Further more describing the Computer-

ized Tomographic images and making a distinct diagno-

sis was equally difficult radiologically (compare figures

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-

mon in Thailand.

Malaysia, and Indonesia than in Europe or the United

states. In series reported from Africa, occipital en-

2,3

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.

2,5

In 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

mined.

our patient; this is at variance with the finding by

Obande et al where their patient had pancraniosynostosis

Fig 3: Cranial CT scan

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

7,8

cerebrospinal fluid (CSF) rhinorrhea, though this was

not present in our patient.

Fig 4: Cranial CT scan

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-

Discussion

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

be 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.

[10]

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

Conclusion

this regard, but our capacity in this regard is limited.

A frontonasal mass in a newborn infant may present a

A frontonasal mass in a new born may present a difficult

difficult diagnostic problem.

2,3

Clinical diagnosis of

diagnostic problem because these are rare anomalies.

presentation of a frontonasal mass does not constitute a

Our 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-

ple anomalies, then, it becomes a problem, as in our

erto described in association. The relative significance

173

of these impressive compromise of neuro-ectodermal

Acknowledgements

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

Funding: None

information.

References

1. Muller F,O’Rahilly R. The de-

5. Suwanwela C, Sukabote C,

9. Satyarthee GD, Mahapatra AK.

velopment of the human brain

Suwanwela N. Fronto ethmoi-

Craniofacial surgery for giant

and the closure of the rostral

dal encephalomeningocele.

frontonasal

neuropore at stage 11. Anat

Surgery.1971;69(4):617-625 .

Encephalocele in a neonate. J

Embryol .1986;175 (2):205-22 .

6. Obande JO, Jimoh AO,

Clin Neurosci.2002;9(5):593-

2. Hughes GB, Sharpino G, Hunt

Oluwole P, Onyejekwe K.

595 .

W, Tucker H M. Management

Alobar

10. Gusnard DA, Zimmerman RA.

of the congenital midline nasal

7. Holoprosencephaly, Cranio-

Computed tomography versus

mass. Head Neck Surg.1980;2

synostosis and Microcephaly:

magnetic resonance

(3):222-233.

A Constellation of abnormali-

imaging of the pediatric cen-

3. Paller AS, Pensler JM, Tomita

ties in a neonate with frontona-

tral nervous system. Tech-

T. Nasal midline masses in

sal encephalocele. AASCIT J of

niques, indications and

infants and children. Dermoids,

Medicine. 2015;1(2):10-13.

examples. Clin Pediatr;

encephaloceles and gliomas.

Jarrah Ali Al-Tubaikh, maxi-

29:136-157.

Arch Dermatol.1991;127

millan Freises(eds). Congenital

(3):362-366.

Diseases and Sydromes: An

4. Nyagah RW. A Ten Year Ret-

illustra

rospective Study on Encephalo-

Disorders. Eur J Paediatr Neu-

celes As Seen and Managed at

rol.2009; 14(1):1-12.

the Kenyatta National Hospi-

tal.2003[cited 2017 Aug 11].

Available from:http://

surgery.uonbi.ac.ke/

uon_student_projects/2003.