AASCIT Journal of Medicine

2015; 1(2): 10-13

Published online May 10, 2015 (http://www.aascit.org/journal/medicine)

Keywords Alobar Holoprosencephaly,

Craniosynostosis,

Microcephaly,

Frontonasal Encephalocele,

Cavernous Angioma

Received: April 4, 2015

Revised: April 28, 2015

Accepted: April 29, 2015

Alobar Holoprosencephaly, Craniosynostosis and Microcephaly: A Constellation of Abnormalities in a Neonate with Frontonasal Encephalocele

Obande Joseph O.1, Jimoh Abdullahi O.

2, Oluwole Peter

3,

Onyejekwe Kenneth1

1Division of Neurosurgery,Department of Surgery, University of Abuja Teaching Hospital,

Gwagwalada-Abuja, Nigeria 2Division of Neurosurgery, Department of Surgery, Ahmadu Bello University Teaching Hospital,

Zaria, Nigeria 3Department of Pathology, University of Abuja Teaching Hospital, Gwagwalada-Abuja, Nigeria

Email address obandejo@yahoo.com (Obande J. O.)

Citation Obande Joseph O., Jimoh Abdullahi O., Oluwole Peter, Onyejekwe Kenneth. Alobar

Holoprosencephaly, Craniosynostosis and Microcephaly: A Constellation of Abnormalities in a

Neonate with Frontonasal Encephalocele. AASCIT Journal of Medicine.

Vol. 1, No. 2, 2015, pp. 10-13.

Abstract A female neonate who was born with a frontonasal ulcerated protrusion. On examination,

she had a frontanasal ulcerated protrusion, microcephaly and pancraniosynostosis.

Computerized tomography scan revealed alobar holoprosencephaly. The combination of

craniosynostosis with frontonasal encephalocele is rarely described in the literature, and

more so is the combination with alobar holoprosencephaly. Problems in syndrome

diagnosis can arise when previously unreported findings are seen in usual conditions. We

describe our patient with an unusual constellation of conditions.

1. Introduction

Frontonasal encephalocele is an anterior neural tube defect and is rare, constituting

15% of all cases. It presents as a dysplastic mass of brain tissue at the root of the nose.

It is very unusual for the protruding mass to be described as cavernous angioma

histologically. Holoprosencephaly is the result of absent or incomplete cleavage of the

fetal prosencephalon. The alobar type of holoprosencephaly is even rarer as it is said to

be incompatible with life. The combination of frontonasal encephalocele and alobar

holoprosencephaly is hardly described in the literatures; the presence of microcephaly

and craniosynostosis completes this rare presentation. We describe our patient with this

unusual presentation and subsequent management.

2. Case Report

A term female neonate delivered to a 32 year-old healthy Nigerian mother, who was

gravida 3, para 0, from a non-consanguinous marriage. Gestation was complicated in

the 1st month with high grade fever managed only with paracetamol. There was

unremarkable family history. At birth, the neonate was noted to have ulcerated

frontonasal protrusion without cerebrospinal fluid (CSF) leak and a dysmorphic face

11 Obande Joseph O. et al.: Alobar Holoprosencephaly, Craniosynostosis and Microcephaly: A Constellation of Abnormalities in a

Neonate with Frontonasal Encephalocele

with associated microcephaly, and pancraniosynostosis.

There was hypertelorism and a shallow orbit but no

syndactyly. She weighed 2.0 Kg, and had an occipitofrontal

circumference (OFC) of 27cm. A cranial CT scan showed

features of alobar holoprosencephaly with a monoventricle,

absent basal ganglia and corpus callosum, a frontonasal

defect with an encephalocele. On the 5th

day of life she had

excision of the frontonasal encephalocele and repair of the

frontal defect, as well as performance of the

craniosynostosis� procedure and excision of the metopic

suture.

Histologically, the excised tissue was described as

cavernous angioma. Postoperatively, she did well with no

new neurological or feeding problems.

The anomalies are as illustrated below;

Figure 1. Patient showing the frontonasal protrusion on the 1st day of life.

Figure 2. Cranial CT scan showing the single ventricle and the frontonasal

protrusion and obvious subarachnoid spaces

Figure 3. 3D CT showing the frontonasal defect and shallow orbit

Figure 4. 3D CT image showing the fused cranial sutures and cranial shape

Figure 5. Intraoperative image showing the � procedure and metopic

suturectomy

AASCIT Journal of Medicine 2015; 1(2): 10-13 12

Figure 6. Postoperative image at 3 months

Figure 7. Head contour postoperative at 3 months

Figure 8. A photo-micrograph of excised frontonasal encephalocele

revealing dilated thin-walled capillaries

At 3 months of age she was yet to fixate her eyes on

objects or achieve neck support. The OFC was 32cm with

mild hypotonia of the limbs. There was a good cosmetic

outcome of the skull.

3. Discussion

Craniosynostosis is a condition in which the growth

pattern of the skull changes as a result of premature fusion of

the skull sutures1. Craniosynostosis is part of a syndrome in

15 – 40 % of patients, but it usually may occur in isolation1, 2

.

Our patient had pancraniosynostosis (figure 4) and

phenotypic syndromic facie(figure 1) i.e. hypertelorism and

shallow orbit. There was a frontonasal encephalocele with

minimal intracranial brain mantle of 12 -13 mm, suggesting

that the microcephaly maybe of the primary type, where

absence of growth of the brain renders the sutures of the

cranial vault useless. This is corroborated by the enlarged

subarachnoid spaces3(figure 2).

In alobar holoprosencephaly, both lateral ventricles and

third ventricle become confluent3. This is usually

accompanied by classical facies of cyclopia, ethmocephaly,

cebocephaly or cleft lip3.Hypotelorism is also an

accompanying feature7. Our patient though has a dysmorphic

facie, did not present with any of this classic pattern. This

may imply a less distinction towards midfacial dysplasias of

the frontonasal dysplasias. Hypertelorism is, equally, more

likely to be present in the setting of a frontonasal

encephalocele. The exact etiology of alobar

holoprosencephaly is unknown7.Environmental factors such

as maternal diabetes mellitus, alcohol use as well as use of

the teratogen – retinoic acid have been implicated, as has

been mutation of some genes like Sonic hedgehog and ZIC2

on chromosome 13q327, 8

. Our patient was a product of a

non-consanguinous marriage and the mother had none of

these risk factors. The majority of holoprosencephaly are said

to be sporadic8. Our patient’s mother had a febrile illness of

high grade fever which was treated with only paracetamol in

the 1st month of gestation and the genetic abnormalities of

holoprosencephaly occur at the 4th

week of intrauterine life7,

8. Cytomegalovirus infection in pregnancy is known to cause

holoprosencephaly7. This incidence may have been of

infective origin, given an unremarkable family history.

Genetic studies were not conducted in our patient due to

unavailability of same in our environment; there has been

known associations to trisomy 13 or 183, 9

. The cost of

conducting MRI also precluded our patient and us from its

untold benefits.

Surgery had to be conducted on an emergency basis as a

result of the ulcerated frontonasal encephalocele. The

herniating brain tissues were excised via a cranial approach10

.

The dura defect repaired with pericranium and the

frontonasal defect sealed with an autologous parietal bone

graft. The skin of the root of the nose was re-fashioned.

At the same setting, a craniosynostotic � procedure was

performed11

and metopic suturectomy done (figure 5) and the

bones were tacked in place. These were considered as having

13 Obande Joseph O. et al.: Alobar Holoprosencephaly, Craniosynostosis and Microcephaly: A Constellation of Abnormalities in a

Neonate with Frontonasal Encephalocele

corrected the frontonasal encephalocele, immediate brain

growth would have been hampered by the fused cranial

sutures1, 2,3,5,6

. All considered, though, our patient had an

extensive procedure, good anaesthesia, astute surgical

haemostasis, prompt blood transfusion as required; the

procedure was well tolerated by the neonate. The immediate

postoperative period was uneventful. The histology result of

cavernous angioma (figure 8) was surprising. The frontonasal

protrusion did not look like the brain (figure 1) but was

earlier thought to be attenuated cerebral matter from

exposure to prolonged extracranial environment. MRI and

genetic studies would have assisted with further evaluation5,6

.

There was good cosmetic outcome at age 3 months with a

good re- contouring of the skull (figures 6 and 7). However,

developmental milestones of fixation of eyes on moving

objects, social smiles and neck controls were lacking. This

may not be unconnected to the underlying brain pathology.

4. Conclusion

Neonates with encephaloceles must be worked up for

underlying structural abnormalities like alobar

holoprosencephaly; more so, in the setting of microcephaly.

Though, no syndrome may have encompassed all the

anomalies seen in our patient, a better understanding of the

constellation of abnormalities will help to identify specific

syndromes, and this will aid counseling and prognostication.

Lastly, in the emergency setting of an ulcerated

encephalocele with craniosynostosis, simple craniosynostosis

procedures appear well tolerated and give good outcomes.

References

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