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Case Report

Amniotic Band Syndrome Associated with Exencephaly: A Case Report and

Literature Review
Aldo Jose F. da Silva
Division of Pediatric Amniotic band syndrome (ABS) is a rare congenital disease with variable

Abstract
Neurosurgery, Santa
manifestations ranging from simple constriction rings at the extremities to major
Mônica Maternity School
(SMMS), Maceió, Alagoas,
defects such as exencephaly. Here we report the case of a female baby born full
Brazil term (39 weeks) from a 35-year-old primiparous mother by cesarean section.
In addition to the constriction rings at the extremities (fingers), the newborn
presented facial malformations and a cranial anomaly suggestive of exencephaly.
Supportive treatment was chosen because of the poor prognosis, and the child
died 5  months later. Depending on the anomaly associated with ABS and its
complexity, as in our case, genetic studies should be performed whenever
possible, and the parents should be informed about the possibility of recurrences
and incompatibility with life.
Keywords: Abnormalities, amniotic band syndrome, anencephaly, encephalocele,
intrauterine ring constriction

Introduction marriage and no history of teratogenic medication,

diabetes, hypertension, recent infection, or drug
A   mniotic band syndrome (ABS) is a rare
  congenital disorder with several manifestations
from simple constriction rings to major defects that
exposure during pregnancy. Antenatal ultrasound (28
weeks) led to the diagnosis of frontal encephalocele.
may even lead to miscarriage. Its incidence ranges from On physical examination, the newborn weighed 3500 g
1:200 to 1:500 live births.[1] It affects both sexes equally, and had difficulty in breathing and showed partial
and its frequency is slightly higher in the people of the absence of the skull bones (left parietal, left temporal,
Afro-Caribbean descent.[2] The first report on this type and frontal bones).
of malformation was published in 1685 by Portal. The
Owing to this defect, protruded abnormal brain tissue
first description of its etiopathogenesis was proposed
was covered only by a membrane similar to the dura
by Montgomery in 1832.[3] Although studies by Orioli
mater. There were malformations along the facial
et  al.[4] showed that the extremities are more affected
midline, such as bilateral cleft lip and palate and nasal
by this disease, Guzmán-Huerta et  al.[5] reported
deformity. Bilateral proptosis was also noted. Changes
craniofacial abnormalities in 78% of the cases and
in the extremities included the following: her right hand
defects of the extremities in 70%. Cranial changes
had hypoplastic second and third fingers conjoined
range from encephalocele to acrania.[6] Exencephaly is
by a fibrous tissue (syndactyly) and left hand had
a type of acrania, with disorganized brain tissue arising
constriction rings around the third and fifth fingers,
from the base of the skull.[7] We report the case of a
newborn with ABS and exencephaly.

Case Report Address for correspondence: Dr. Aldo J. Ferreira da Silva,

Division of Pediatric Neurosurgery,
A female newborn was delivered by a 35-year-old Santa Mônica Maternity School (SMMS),
primigravida mother at term (39 weeks) by a cesarean Maceió, Alagoas, Brazil.
E-mail: neuroajfs@bol.com.br
section. The mother reported a consanguineous
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How to cite this article: da Silva AJ. Amniotic band syndrome associated
DOI: 10.4103/jpn.JPN_130_18
with exencephaly: A case report and literature review. J Pediatr Neurosci
2019;14:94-6.

94 © 2019 Journal of Pediatric Neurosciences | Published by Wolters Kluwer - Medknow

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da Silva: Amniotic band syndrome associated with exencephaly
with amputation of the distal phalanx of the fourth
finger. Congenital clubfoot was noted [Figure 1].
Cranial computed tomography (CT) evidenced a great
amount of protruding malformed brain tissue through
the skull bone defect caused by the partial absence
of the frontal, left temporal, and left parietal bones,
suggesting exencephaly [Figure 2].
No other malformations were found. ABS was
diagnosed on the basis of the clinical picture.
Only support treatment was provided because of the
severity of the condition and the poor prognosis,
including feeding via an orogastric tube and
tracheostomy for improved breathing. However, the
Figure 1: Coronal CT scan, protruding malformed brain tissue
through the skull bone defect caused by the partial absence of the
frontal, left temporal, and left parietal bones (arrows)
Figure 2: Right hand, hypoplastic second and third fingers
conjoined by a fibrous tissue (syndactyly). Left hand, constriction
rings around the third and fifth fingers, with amputation of the
distal phalanx of the fourth finger
Journal of Pediatric Neurosciences  ¦  Volume 14  ¦  Issue 2  ¦  April-June 2019
child died from acquired comorbidities 5 months after
birth.
Discussion
ABS comprises a group of anomalies that correspond
to 1%–2% of the congenital malformations in the
general population. This disorder is not hereditary, and
no risk of recurrence is observed.[8]
Its etiology is unknown. Several theories have been
suggested to explain its etiopathogenesis, and the most
accepted ones are as follows: (1) the intrinsic theory
proposed by Streeter in 1930, which establishes that
congenital constriction is a germplasm defect with
vascular disruption and change of morphogenesis
during gastrulation, forming the fibrous bands and
causing limb necrosis[1,3,9] and (2) the extrinsic theory
proposed by Torpin in 1965, which associated the
defects of the extremities or limb amputations with
amniotic rupture and compression of the bands.[3]
There are multifactorial and genetic factors that cause
amniotic rupture: direct abdominal trauma, induced
abortion, amniocentesis, maternal exposure to drugs,
bacterial infection of the amniotic membranes, and
oligohydramnios.[8]
According to Higginbottom, there are three mechanisms
that could explain the role of bands in the genesis of
the malformation: (1) interruption of morphogenesis,
(2) deformation due to compression of fetal parts by
the fetus itself or entrapment of fetal parts by the band,
and (3) injury of already formed and developed fetal
parts such as constrictions found in the extremities.[10]
Van Allen et  al., in 1987, also contributed with the
theory of vascular disruption, preceded by Kino who
conducted experiments in animal models in 1975.[3]
Hunter et  al. proposed another theory based on a
defect or primary deficiency in the ectoderm of the
embryonic disc. The area affected and the severity
of the results varied according to the location of the
defect. In particular, craniofacial abnormalities were
classified as follows: (1) exencephaly/encephalocele
with amniotic connections and without facial cleft;
(2) similar cranial lesions, with facial clefts and with
or without amniotic bands; (3) abdominoschisis and
thoracoabdominoschisis; and (4) limb abnormalities.[3]
Exencephaly is a malformation incompatible with
extrauterine life.[11] This condition is the partial or
complete absence of the calvaria (acrania) associated
with protrusion of an abnormal brain tissue through
the defect. Some studies have shown that it is an
embryological precursor of anencephaly, resulting
95
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da Silva: Amniotic band syndrome associated with exencephaly
from the degeneration of the unprotected brain tissue
affected by mechanical and chemical trauma when
exposed to the amniotic fluid.[7,12]
The diagnosis of ABS is difficult and occurs in only 29%–
50% of cases.[3] The craniofacial deformities are often
bizarre, and the internal organ abnormalities are rare.[2]
Exencephaly may be diagnosed using the measurement
of alpha-fetoprotein level in the amniotic fluid and
maternal blood. Ultrasound may be used at gestational
week 11, which may indicate the absence of bone
coverage in the cranial vault.[11,13]
The prognosis of ABS varies according to the
associated anomalies. In this case, despite the
complex anomaly (exencephaly) and poor prognosis,
supportive measures were chosen and the survival
period was 5  months. The complications from this
disease are severe; therefore, genetic studies should be
performed whenever possible, and the parents should
be informed about the potential risk of recurrences
and incompatibility with life.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
References
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Rendon B. Amniotic band syndrome: 3 case reports. Rev Chil
Pediatr 2008;79:172-8.
96 Journal of Pediatric Neurosciences  ¦  Volume 14  ¦  Issue 2  ¦  April-June 2019
3. González  ZIR, Padilla  FS. Complejo de deformidades
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