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Volume 6, Issue 4, April – 2021 International Journal of Innovative Science and Research Technology

ISSN No:-2456-2165

Encephalocele Prenatal Diagnosis: About a Case


Meimouna Mohamed Lemine, Ezza Lemrabot, Karam Mouhammed Saoud,
Nessrine Mamouni, Senae Errarhay ; Chahrazad Bouchikhi ; Abdelaziz Banani

Department of Obstetric and Gynecology I .Uhc Hassan II of Fes, Marocco


Sidi Mohamed Ben Abdellah University, Faculty of Medicine and Pharmacy of Fes.
Corresponding Author : Meimouna Mohamed Lemine

Abstract:- Encephalocele is the consequence of an Case 1:


incomplete closure of the cranial cavity. The prognosis Patient aged 45 years, large multiparous, without
depends on the topography and volume of the lesion. The notable pathological history, admitted in labor on a
antenatal diagnosis is made during the first trimester pregnancy estimated at 38SA + 5 days, the pregnancy was
ultrasound in 80% of cases. We report two cases of followed at the health center, without notion of
encephalocele diagnosed antenatally by ultrasound in morphological ultrasound. An ultrasound scan was
our department and managed immediately at birth by performed, showing a severe hydrocephalus (figure 1), with
pediatric surgeons and neonatologists. a bi-parietal diameter of 118mm, with a brain parenchyma
of 9mm, associated with a parietal encephalocele (figure 2),
I. INTRODUCTION hence the indication for a caesarean delivery. Extraction of a
male neonate, Abgard 10/10, birth weight 3300g, with
Encephalocele is defined as the exteriorization of brain presence of a macrocrania and an intact parietal
tissue and/or meninges outside the skull cavity through a encephalocele of 14cm (figure 3), neonate with good
congenital bony defect. The detection rate of cephaloceles in adaptation to the extrauterine life, neurological examination
the first trimester has been estimated at 80% and it does not reveal any other abnormality, entrusted to the
constitutes 5% of all severe structural abnormalities of the pediatric surgeon for an eventual cure of encephalocele.
central nervous system (CNS)[1].

Figure 1, 2 : ultrasound images of a mass in the parietal bone, heterogeneous and predominantly anechogenic, evoking an
encephalocele, and a severe hydrocephalus

Figure 3 : aspect of the parietal encephalocele after delivery

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Volume 6, Issue 4, April – 2021 International Journal of Innovative Science and Research Technology
ISSN No:-2456-2165
Case 2: occipital encephalocele (figure 4) making 3cm, without
Patient aged 27 years, with no notable pathological other associated signs, notably no hydrocephalus or other
history; second action; without notion of consanguinity, neural tube closure anomalies, vaginal delivery was
current pregnancy not followed (contracted in the period of accepted, expulsion of a male newborn; the clinical
pandemic Covid 19), admitted in active phase of labor on a examination confirmed the presence of an occipital
pregnancy which is said to be at term, an obstetrical encephalocele (figure 5) with a scalloped sac; with a normal
ultrasound was made before entering the delivery room and neurological examination and good adaptation to extra
which objectified an evolutive mono-fetal pregnancy with uterine life. He was subsequently referred to the pediatric
presence of an anechne occipital mass in favor of an surgery department for management.

4 5
Figure 4 : a heterogeneous occipital mass, with an anechogenic component, suggesting an occipital encephalocele.
Figure 5 : aspect of the occipital encephalocele after delivery.

II. DISCUSSION encephaloceles, with diagnosis usually made in the second


trimester. [5]
Encephalocele affects 0.8 to 5 in 10,000 live births, [2]
with marked geographic and ethnic variations. While the Although the onset of cephaloceles apparently occurs
prevalence of neural tube defects has decreased significantly between 25 and 50 days of gestation (for lesions located
since the folic acid fortification that was recommended in anteriorly) and up to 60 days (for posterior defects), but the
the early 1990s, this question has been controversial with median GA of diagnosis is approximately 18 weeks of
respect to the development of cephaloceles [3, 4]. gestation according to the literature [8].

For both patients folic acid supplementation was not for our two patients the diagnosis was late because
taken nor were other supplements taken during their they were not followed up; their pregnancies occurred at the
pregnancy. same time as the pandemic period of COVID 19

with prognosis dependent on the amount of herniated The etiology of cranial hernias is not fully understood,
brain tissue and other associated malformations. [5] More but includes ethnic, genetic, and environmental factors. It is
than 75% of encephalocele cases are occipital in location, simply a failure of separation of the neural ectoderm from
while others may be frontal or parietal. [7] Prenatal the surface ectoderm after closure of the rostral neuropore
diagnosis is usually made by ultrasound (US). during the four weeks of gestation. [9].

Schoner K, et all reported on a study done on neural Weichert J and all [10] have reported, 80% of defects
tube defects; they found 17.7% of meningo-encephaloceles are occipital versus 6% parietal. It is interesting to note that
represent. [6] for our reported cases one is occipital of small the latter are discussed as not constituting a genuine form of
size and was not associated with other malformation; and in neural tube defect, but rather an origin of the defect
the other case the encephalocele is of parietal localization stemming rather from environmental influences (e.g.,
which is a rare form of the encephalocele, and is associated reduced folic acid consumption) ; and It has recently been
with severe hydrocephalus and in any case the diagnosis is established that maternal passive smoking is an independent
made by ultrasound. risk factor for three subtypes of NTDs (anencephaly, spina
bifida and more strongly encephalocele) [11, 12].
Prenatal ultrasound to assess fetal morphology is
usually performed early in pregnancy, between 11 and 14 In terms of management, a neurosurgical opinion is
weeks' gestation, and can detect a wide range of congenital warranted. In a previous study published by Kiymaz et al,
anomalies, including neural tube defects. [7] Two- [13] factors such as lesion size, amount of neural tissue
dimensional ultrasound can detect approximately 80% of contained, ventriculomegaly, and other accompanying
abnormalities negatively affected the prognosis of these

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Volume 6, Issue 4, April – 2021 International Journal of Innovative Science and Research Technology
ISSN No:-2456-2165
patients. The amount of neural tissue involved is associated [11]. Wang M, Wang ZP, Zhang M, Zhao ZT (2014)
with the severity of subsequent neurodevelopmental delays. Maternal passive smoking during pregnancy and
It has also been reported that only about 17% of patients neural tube defects in offspring: a meta-analysis. Arch
with encephaloceles had normal development, whereas 83% Gynecol Obstet 289:513–521
of patients had severe psychomotor developmental [12]. Suarez L, Ramadhani T, Felkner M, Canfield M,
delays[14] Although the treatment is surgical correction, Hendricks K (2011) Maternal smoking, passive
encephalocele remains a disorder with very high morbidity tobacco smoke, and neural tube defects. Birth Defects
and mortality rates despite appropriate treatment. Res A Clin Mol Teratol 91:29–33
[13]. Kiymaz N, Yilmaz N, Demir I, Keskin S. Prognostic
III. CONCLUSION factors in patients with occipital encephalocele. Pediatr
Neurosurg 2010; 46:6–11
Encephalocele can appear isolated or as part of a [14]. French BN. Midline fusion defects and defects of
polymalformative pattern. The antenatal diagnosis is mainly formation. In: Youmans JR (ed). Neurological
based on ultrasound. Advice to parents must be tailored Surgery. Philadelphia, PA: WB Saunders Co;
individually and on a case-by-case basis; in a 1990:1164–1169.
multidisciplinary approach with neuropediatricians,
geneticists and neurosurgeons.

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