- Department of Pediatric Neurosurgery, Santa Monica Maternity School - Alagoas State University of Health Sciences, Maceio, Alagoas, Brazil.
- Department of Pediatrics, Neonatal Intensive Care Unit, Santa Monica Maternity School, Maceio, Alagoas, Brazil.
Aldo Jose Ferreira da Silva
Department of Pediatrics, Neonatal Intensive Care Unit, Santa Monica Maternity School, Maceio, Alagoas, Brazil.
DOI:10.25259/SNI_454_2020Copyright: © 2020 Surgical Neurology International This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
How to cite this article: Aldo Jose Ferreira da Silva1, Carolina S. Magalhães e Silva2, Sonaly C. R. Mariano2. Amniotic band syndrome with double encephalocele: A case report. 22-Dec-2020;11:448
How to cite this URL: Aldo Jose Ferreira da Silva1, Carolina S. Magalhães e Silva2, Sonaly C. R. Mariano2. Amniotic band syndrome with double encephalocele: A case report. 22-Dec-2020;11:448. Available from: https://surgicalneurologyint.com/surgicalint-articles/10472/
Background: Amniotic band syndrome (ABS) is a rare condition of controversial etiology that is associated with varying degrees of anomalies. This study reports a case of a newborn with ABS associated with double encephalocele in the frontal region.
Case Description: A 29-year-old primiparous woman with no history of prenatal infection or consanguineous marriage had a cesarean section at gestational week 38, giving birth to a newborn who was well but had limb anomalies (constriction rings, amputations, and syndactyly) and craniofacial anomalies, mainly double frontal encephalocele. The patient underwent surgical repair and subsequent placement of a ventriculoperitoneal shunt.
Conclusion: Studies clarifying this uncommon association with double encephalocele are limited. ABS associated with double encephalocele is rare and even more complex when associated with other anomalies. Thus, the conditions in such children are severe and require multidisciplinary monitoring.
Keywords: Amniotic band syndrome, Amputations, Encephalocele, Syndactyly
Amniotic band syndrome (ABS) is a rare congenital condition. Its incidence varies from 1:1200 to 1:15,000 live births, and it has an equal distribution between sexes. The occurrence of ABS is sporadic, and the prognosis of ABS depends on the severity of the anomalies and degree of involvement of the affected organs. The etiology of ABS is controversial, and several synonyms have been reported in the literature, including ADAM (Amniotic Deformity, Adhesions, and Mutilations) complex, amnion rupture sequence, amniotic band sequence, amniotic band disruption complex, congenital ring constriction, constriction ring syndrome, transverse limb defects, annular constriction bands, aberrant tissue bands, Streeter’s dysplasia or syndrome, and early amnion rupture spectrum.[
Portal was the first to report this malformation in 1685.[
The present study reports a case of a newborn with ABS associated with double frontal encephalocele, which is a rare malformation.
The mother was a 29-year-old primiparous woman with no history of infections during pregnancy, a consanguineous marriage, or exposure to teratogens. She was admitted to Santa Mônica Maternity School at gestation week 38; she underwent a cesarean section and delivered a female newborn who was well, with an APGAR scores were 8 and 9 at 1–5 min, respectively. Weight 3550 g, height 51 cm, non-measurable head circumference, and chest circumference 35 cm. The newborn had the following abnormalities: multiple craniofacial malformations such as bilateral cleft lip, hypertelorism, and bilateral frontal encephalocele [
(a) Double frontal encephalocele (black arrow), bilateral complete cleft lip (dotted black arrow) and hypertelorism; (b) Left leg: constriction ring above ankle joints (black arrow); (c) Left foot: partial amputation of the 1st and 2nd fingers (black arrowheads), constriction ring of the 3rd finger (black arrow) and fenestrated syndactyly of the 4th and 5th fingers (dotted black arrow); (d) Right foot: fenestrated syndactyly of the 2nd, 3rd, and 4th fingers (black arrow).
The patient underwent surgical repair of the double frontal encephaloceles (6 × 4 cm on the right and 6 × 5.5 cm on the left), with no complications [
(a) and (b) Frontal cranial defect with open sutures (black arrows), without craniosynostosis showing two separate sacs with malformed neural tissue (white arrows): dysmorphic ventricle, open lip schizencephaly, lissencephaly spectrum, agenesis of the corpus callosum; (c) ventriculoperitoneal shunt placement (black arrow). (d) After shunt placement.
In an attempt to explain the etiopathogenesis of ABS, two theories have been proposed. The first is the intrinsic theory, proposed by George Streeter in 1930; this theory states that a dysfunction in embryogenesis would lead to imperfect histogenesis of the fetal tissue, resulting in the fibrous bands. However, it fails to explain most of the anomalies observed.[
Some risk factors associated with amniotic rupture include maternal abdominal injuries, surgical interventions before or during pregnancy, use of intrauterine devices, uterine malformation, collagen diseases (osteogenesis imperfecta and Ehlers-Danlos syndrome), drugs (clomiphene and contraceptives), and amniocentesis (chorionic villus biopsy).[
Other theories also try to explain the anomalies caused by ABS, such as the vascular disruption theory, proposed in 1987, according to which vascular damage during embryogenesis would lead to destruction of existing structures, thereby causing internal and external defects.[
A genetic basis has also been considered to explain these anomalies of ABS, theorizing that the cause could be a mutant gene, such as a human homolog of the Ds gene (“disorganization gene”) of mutant mice, which would cause a wide variety of anomalies.[
Some genetic syndromes involving cleft lip and palate can also present oral or facial fibrous bands. These include Van der Woude syndrome and popliteal pterygium syndrome, which involve IRF6 mutations, and Hay-Wells syndrome, with p63 mutations.[
According to Guzmán-Huerta et al.,[
In the present study, the rare craniofacial defect associated with ABS was double encephalocele, which is characterized by multiple neural tube defects of rare occurrence.[
The diagnosis of ABS is most often made on the basis of the clinical findings of anatomical abnormalities. Chromosomal analysis is usually normal.[
ABS may be associated with several anomalies ranging from the less severe defects such as constriction rings of the fingers to the most complex craniofacial malformations, as that reported in the present study. Double encephalocele in the presence of ABS is a rare condition, and in our case, it was accompanied by other existing anomalies (cleft lip, limb constriction rings, and amputations). Such conditions are severe, with high morbidity and mortality rates. Patients who survive such conditions require multidisciplinary monitoring to improve their quality of life.
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