Prenatal Diagnosis of A Case with Frontoethmoidal Encephalocele and the Neonatal Outcome

Abstract

Encephalocele is a rare congenital defect characterized by a sac-like protrusion of the neural tissue and/or meninges through a defect in
the skull. We reported a case with a naso-frontal anterior encephalocele which was diagnosed by prenatally and confirmed by postnatal
evaluation and complications such as hypoadrenalism, diabetes insipidus and arterial thrombosis in the lower limbs were diagnosed in
the neonatal period.

Full text

Journal of Clinical and Diagnostic Research. 2015 Jul, Vol-9(7): QD05-QD07 55
DOI: 10.7860/JCDR/2015/13746.6166 Case Report
CASE REPORT
A 24-year-old late registrant admitted to the Perinatology Clinic
of Zekai Tahir Burak Women's Health Education and Research
Hospital for the first time at 18 weeks of gestation. Her past
medical history was unremarkable. The routine examination with
two-dimensional sonography (USG) (Voluson E730; GE Healthcare)
revealed a singleton fetus, appropriate for gestational age biometry
with overall normal anatomy other than a midline soft-tissue mass
which contained brain tissue and cerebrospinal fluid measuring 1.8
× 1.5 × 1.3 mm in size, with a cyst in a cyst appearance, projecting
anteriorly through a bony defect, from the lower part of the forehead
between the orbits [Table/Fig-1a]. The posterior fossa contents
appeared normal and no other abnormalities were noted in the
detailed USG.The parents, following counseling about the status
of the fetus, declined both termination of the pregnancy and further
genetic evaluation.
The progress of the pregnancy was uneventfull until the 35th week
when the patient came to our emergency unit with vaginal bleeding
and abdominal pain. A live baby boy weighing 2140 gm with a head
circumference of 34.5 cm was delivered by caesarean section. The
baby was noted to have a 5x4cm midline soft tissue mass in the
forehead associated with hypertelorism and a wide nose bridge.
The overlying skin was intact. No other systemic abnormalities were
detected [Table/Fig-1b].
The magnetic resonance imaging (MRI) scan, confirming the bone
defect between the frontal and nasal bones, the herniation of the
meninges, cerebrospinal fluid (CSF), and the brain tissue, also
revealed concurrent deformation of the inferior frontal gyrus, slight
dilatation of the lateral ventricles and spina bifida occulta at the 1st
sacral level. The rest of the intracranial anatomy was normal. A one-
stage operation was carried out when the baby was 7-days-old. The
exploration of the sac and excision of the malformed brain tissue
was followed by reconstruction of the dural defect by synthetic
graft, muscle and fibrin glue. Postoperative minor cerebrospinal
fluid leakage from the wound eventually stopped spontaneously.
Histopathologic examination of the excised brain tissue revealed
dysplastic, gliotic structure. On the day of surgery, pallor and
swelling was noticed in the right lower limb. Screening for genetic
procoagulant mutations revealed combined heterozygous MTHFR
677C-T and PAI-1 4G/5G gene mutations. Upon progression of
ischemic skin changes in the right leg and left foot in the following
days, as the vascular surgeons suggested, anticoagulation
was started and the umbilical catheter was removed. Despite
conservative management, at the age of 34 days, he underwent
right lower limb amputation above the knee with the diagnosis of
arterial thrombosis [Table/Fig-2].
The additional MRI scans of the brain and cervical spine of the
neonate within the following several neonatal days, in contrast to the
Keywords: Neonatal diabetes insipidus, Neonatal arterial thrombosis, Neonatal adrenal insufficiency
Obstetrics and Gynaecology
Section
Prenatal Diagnosis of A Case with
Frontoethmoidal Encephalocele and the
Neonatal Outcome
EBRU HACER BIBEROGLU1, AYSE KIRBAS2, KORKUT DAGLAR3, NURI DANISMAN4
ABSTRACT
Encephalocele is a rare congenital defect characterized by a sac-like protrusion of the neural tissue and/or meninges through a defect in
the skull. We reported a case with a naso-frontal anterior encephalocele which was diagnosed by prenatally and confirmed by postnatal
evaluation and complications such as hypoadrenalism, diabetes insipidus and arterial thrombosis in the lower limbs were diagnosed in
the neonatal period.
[Table/Fig-1a,b]: a) The ultrasound image which shows the mass measuring 1.8 × 1.5 × 1.3 cm in size (cyst within a cyst appearance), protruding between the frontal and nasal
bones at 18th weeks of pregnancy. b) The neonate with the nasofrontal encephalocele at birth
[Table/Fig-2]: The recent picture of the case at 8 months of age, hospitalized due to pneumonia

Ebru Hacer Biberoglu et al., Frontoethmoidal Encephalocele www.jcdr.net
Journal of Clinical and Diagnostic Research. 2015 Jul, Vol-9(7): QD05-QD07
66
first postpartum scan, demonstrated partial elevation of cerebellar
tonsils, the posterior fossa appearances resembling clearly those
of the Chiari I anomaly, corpus callosum agenesis and progressive
dilatation of the lateral ventricles.
Initial blood parameters and the biochemical tests were all within
normal range for a newborn. Polyuria and hypernatremia (152
mmol/L), associated serum hyperosmolality (327 mOsm/kg) and
low urine osmolality (180 mOsm/kg), made us think of the presence
of central diabetes insipidus. While the serum growth hormone (7.8
ng/ml) and insulin (2 mU/L) levels were within the normal range,
the cortisol (0,74 g/dL) was lower than normal, compatible with
adrenal insufficiency. Desmopressin and cortisone treatment were
started. The child (now almost 8 months old), shows normal growth
spurts, is neurologically normal but still with hydrocephalus and
the protruding frontal sac, hospitalized currently, with respiratory
distress due to pneumonia, is kept on anticoagulation, steroid and
desmopressin treatments.
Informed consent: Informed consent was obtained from the
patient.
DISCUSSION
Encephalocele is a rare congenital defect (one in 13,000 births)
characterized by herniation of cranial contents through a defect in
the skull [1]. While most encephaloceles occur at the occipital area,
the frontal ones are less common with an incidence of 1 per 40,000
live births. Of infants with encephalocele, 15% have associated
neural tube defects and 40% have additional anomalies [2].
Maternal diabetes, rubella, hypervitaminosis-A, amniotic band
syndrome, aneuploidy including trisomies 13 and 18, and genetic
syndromes such as Dandy-Walker and Meckel-Gruber have been
suggested as potential causes of encephaloceles. Due to the
increased incidence of chromosomal abnormalities coexisting
with encephalocele, a prenatal karyotype should be offered [3-5].
Despite improvements in surgical techniques, overall morbidity and
mortality is still high [1,2].
In the presented case, although early postpartum imaging
demonstrated the cerebellar tonsils in the posterior fossa, Chiari I
malformation was diagnosed in the following weeks. Despite the
traditional concept of Chiari I malformation’s being a congenital
abnormality, evidence has accumulated in recent years, to suggest
that cerebellar tonsillar herniation may be an acquired phenomenon
[6].
Symptomatic neonatal thromboembolic disease (TE) is a rare
condition with an incidence of 0.51 per 10,000 live births [7,8].
Neonatal thrombosis should be differentiated from intrauterine
thrombosis. Arterial thromboses which account for 50% of all
thrombotic incidents in neonates, occur almost completely as
iatrogenic complications of arterial appliances including peripheral
or umbilical arterial catheters [9]. Although most of the arterial TEs
are asymptomatic, large thrombosis can present with necrotising
enterocolitis, renal failure and peripheral limb ischaemia due to
occlusions and embolic incidents [6,8].
The presented case who revealed signs of ischemia in the lower
extremities on the day of encephalocele surgery, ended up with
limb amputation despite conservative management including
immediate removal of umblical artery catheter and anti-coagulation
treatment. Nevertheless, thrombophilic conditions were screened in
our case and we detected two genetic prothrombotic risk factors,
heterozygous MTHFR and 4G/5G mutations. Although it is difficult
to claim that the aetiology of arterial thrombosis in our case is
the genetic mutations alone, we believe that the presence of a
combination of both PAI-1 and MTHFR might cause a potential risk
for the occurrence of arterial ischemia.
A significant number of patients with frontal encephalocele present
clinical evidences suggestive of hypothalamopituitary insufficiency.
Although aetiology is not known, a possible cause of progressive
hormonal dysfunction could be the stretched pituitary stalk and
hypothalamus [7,9]. Although our case had normal thyroid function
and growth hormone levels, he revealed central hypoadrenalism
and central diabetes insipidus, in the early neonatal period.
Ultrasonography is essential to diagnose the fetus for skin covered
or closed defects such as the case with encephalocele presented
in this report, that will not be identified by maternal serum alpha-
fetoprotein screening [10]. The sonographic appearance, the
natural history and clinical prognosis depends on the localization
and content of the protruded sac and also the presence of the
associated anomalies. The most important prognostic factor is the
presence of gross brain tissue in the sac [5,10].
In relation to the neonatal management of encephalocele cases,
the surgical challenges include closing the anatomical defect in
the cranial vault and achieving as near normal functional outcome
as possible with minimal psychomotor defects. Although frontal
encephaloceles have a better prognosis because the defects are in
general smaller the mortality rate is still high [10,11] and the long-
term outcome is generally poor. In a study, of the 8 liveborn infants
out of 15, only 5 survived beyond the neonatal period, and all of the
3 for whom follow-up information was available had developmental
delay [12].
Termination should be discussed with the parents. The parents
should be informed about possible developmental defects in the
baby. If a large amount of neural tissue is detected in the sac, or
if associated anomalies are present, for minimizing maternal risk
cesarean section may be considered [13]. Regarding the future
reproductive outcome, counselling the couple should include the
information that isolated encephalocele is not considered to have
an increased risk of recurrence.
CONCLUSION
We hereby, presented a rare case of prenatally diagnosed frontonasal
encephalocele along with several associated abnormalities in
CNS and serious complications in the early neonatal period. The
presented case was still live at the time of writing of this report but
with several severe co-morbidities including loss of extremities and
respiratory distress. Once the encephalocele has been verified, we
suggest a detailed and careful evaluation to be done for associated
anomalies including a prenatal karyotype and also considering the
imminent poor prognosis, counseling the parents for termination of
pregnancy.
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www.jcdr.net Ebru Hacer Biberoglu et al., Frontoethmoidal Encephalocele
Journal of Clinical and Diagnostic Research. 2015 Jul, Vol-9(7): QD05-QD07 77
PARTICULARS OF CONTRIBUTORS:
1. Faculty, Department of Perinatology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey.
2. Faculty, Department of Perinatology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey.
3. Faculty, Department of Perinatology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey.
4. Assistant Professor, Department of Perinatology, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey.
NAME, ADDRESS, E-MAIL ID OF THE CORRESPONDING AUTHOR:
Dr. Ayse Kirbas,
Cankaya Mahallesi, Ziaurrahman Caddesi, 4A\2 Postal code-06680, Cankaya, Ankara, Turkey.
E-mail :drayse1982@yahoo.com
FINANCIAL OR OTHER COMPETING INTERESTS: None.
Date of Submission: Feb 27, 2015
Date of Peer Review: May 22, 2015
Date of Acceptance: May 29, 2015
Date of Publishing: Jul 01, 2015
Bui CJ, Tubbs RS, Shannon CN, Acakpo-Satchivi L, Wellons JC 3rd, Blount [11]
JP, et al. Institutional experience with cranial vault encephaloceles. J Neurosurg.
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encephalocele. Am J Obstet Gynecol. 1985;153:646-47.