scholarly journals Diagnóstico prenatal de iniencefalia. Reporte de caso.

2021 ◽  
Vol 81 (03) ◽  
pp. 287-291
Author(s):  
Duly Torres-Cepeda ◽  
Eduardo Reyna-Villasmil ◽  
Martha Rondón-Tapia
Keyword(s):  
Nervous System ◽  
Prenatal Diagnosis ◽  
Neural Tube ◽  
Thoracic Spine ◽  
Neural Tube Defect ◽  
Foramen Magnum ◽  
Neural Tube Closure ◽  
Associated Anomalies ◽  
Ultrasound Evaluation ◽  
Tube Closure

Iniencephaly is an infrequent and fatal neural tube defect that affects the occiput and neck, this occurs together with the widening of the foramen magnum, rachischisis and marked retro-flexion of the head. This entity belongs to the group of defects of neural tube closure. About 200 reports have been published in the literature. A diagnosis can be made using an ultrasound morphology test that is easy to perform due to the characteristic findings of the condition. Associated anomalies of the nervous system and other systems are frequently present during the ultrasound evaluation. Prenatal diagnosis of a neural tube defect that involves occipital defects and spinal and thoracic spine rachischisis accompanied by retro-flexion of the head should raise the diagnostic suspicion of iniencephaly. The prognosis is particularly bad with only a few cases of survival. Keywords: Iniencefalia, Neural tube defect, Prenatal diagnosis.

Iniencephaly: a rare congenital anomaly reaching the term

2017 ◽  
Vol 6 (2) ◽  
Author(s):  
Hale Göksever Çelik ◽  
Seda Yilmaz Semerci ◽  
Gökhan Yildirim ◽  
Merih Çetinkaya
Keyword(s):  
Prenatal Diagnosis ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Spinal Dysraphism ◽  
Occipital Bone ◽  
Labor Pain ◽  
Associated Anomalies ◽  
Fetal Head ◽  
Ultrasonographic Examination ◽  
Ultrasound Evaluation

Abstract Introduction Iniencephaly is characterized by a defect in the occipital bone in the inion, occipital encephalocele, spinal dysraphism and fixed hyperextension of the fetal head. The associated anomalies are observed in many systems including the central nervous system and the gastrointestinal system. Prenatal diagnosis is rare because early and careful ultrasonographic evaluation is necessary. Fetuses with iniencephaly are almost always stillborn. We aimed to present a fetus with iniencephaly reaching term in utero. Case A 25-year-old healthy primigravida Syrian woman consulted with labor pain at 39 weeks of gestation. She had no laboratory tests or ultrasonographic examination during the pregnancy. Ultrasound evaluation demonstrated a single live intrauterine fetus with a retroflexed fetal head and excess amniotic fluid. A girl was delivered by cesarean section weighing 3350 g with a length of 48 cm. The fetal head was retroflexed with an occipital bone defect. Associated anomalies such as club foot were also observed (Figures 1 and 2). Discussion Iniencephaly is an extremely rare neural tube defect first described by Saint-Hilare in 1836. Its incidence varies from 0.1 to 10 : 10,000. The incidence is higher in families with a history of neural tube defect. Maternal drug use, smoking, alcohol use, low parity and low socioeconomic status are risk factors. Prenatal diagnosis is possible by careful and early ultrasonographic examination. Termination of pregnancy is the generally accepted approach in these pregnancies because of poor prognosis and severe mortality. The most important precaution is to prevent obstructed labor and maternal trauma due to corporal distortion of the fetus.

scholarly journals Multiple Neural Tube Defect

2018 ◽  
Vol 28 (1) ◽  
pp. 31-36
Author(s):  
Moysés Isaac Cohen ◽  
Wander Da Silva Ferreira ◽  
Renildo Sérgio Batista Dos Anjos ◽  
Marcos Robert Da Silva Souza ◽  
Cleóstenes Farias Do Vale
Keyword(s):  
South America ◽  
Neural Tube ◽  
Neural Tube Defect ◽  
Neural Tube Closure ◽  
Staged Surgery ◽  
Occipital Encephalocele ◽  
Term Baby ◽  
Tube Closure ◽  
Closure Theory

Double neural tube defect is a rare congenital problem. We report a case and discuss about current theories of neural tube closure. A 39 weeks term baby with occipital encephalocele and lumbosacral myelomeningocele is reported and her managementis described. A single-staged surgery was performed. The present case is the first described in South America and seems to support a multi-site closure theory. 

scholarly journals A case report of triple neural tube defect: revisiting the multisite closure theory

BMC Surgery ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Jayant Kumar Yadav ◽  
Ahtesham Khizar ◽  
Pradhumna Kumar Yadav ◽  
Ghulam Mustafa ◽  
Sajid Nazir Bhatti
Keyword(s):  
Case Report ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Neural Tube Defect ◽  
Neurological Outcome ◽  
Neural Tube Closure ◽  
Good Neurological Outcome ◽  
Case Presentation ◽  
Tube Closure ◽  
Closure Theory

Abstract Background Triple neural tube defects are rare. To the author’s knowledge, there are only four reported cases available in the literature up to date. Controversies exist with regards to the development of neural tube defects. We revisit the multisite closure theory and try to explain the mechanism of neural tube defects in our case. Case presentation We report a case of one-month-old baby boy who presented to us with three distinct neural tube defects. He had occipital and cervical encephaloceles along with thoracolumbar myelomeningocele accompanied by syrinx and mild hydrocephalus. All the three defects were surgically corrected with good neurological outcome. Conclusion In the multisite model of human neural tube closure, there are only two fusion sites and two neuropores unlike in mouse. This can explain the origin of open neural tube defects including anencephaly and myelomeningocele (as in our case) but cannot account for the development of encephalocele, which appears to be a post neurulation defect.

Vascular Basis for Neural Tube Defects: A Hypothesis

PEDIATRICS ◽  
1987 ◽  
Vol 80 (1) ◽  
pp. 102-106
Author(s):  
Roger E. Stevenson ◽  
JoAnn C. Kelly ◽  
Arthur S. Aylsworth ◽  
Mary C. Phelan
Keyword(s):  
Blood Flow ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Neural Tube Defect ◽  
Neural Tissue ◽  
Nutrient Supply ◽  
Neural Tube Closure ◽  
Arterial Supply ◽  
Vascular Abnormalities ◽  
Tube Closure

A hypothesis is set forth that neural tube defects are produced by inadequate nutrient supply to the rapidly growing neural folds. According to this hypothesis, a delay in establishing blood flow or an aberration of blood supply to neural tissue may interfere with nutrition and prevent neural tube closure. The hypothesis was tested by examining the vasculature of fetuses with spinal neural tube defects. In each case, the arterial supply to the region of the neural tube defect was disturbed. Because development of arterial supply to the neural folds predates neural tube closure, these vascular abnormalities are considered to be primary malformations that lead to neural tube defects rather than secondary morphologic disturbances resulting from neural tube defects.

Central Nervous System Anomalies Associated with Meningomyelocele, Hydrocephalus, and the Arnold-Chiari Malformation: Reappraisal of Theories Regarding the Pathogenesis of Posterior Neural Tube Closure Defects

Neurosurgery ◽  
1986 ◽  
Vol 18 (5) ◽  
pp. 559-564 ◽  
Author(s):  
James N. Gilbert ◽  
Kenneth L. Jones ◽  
Lucy B. Rorke ◽  
Gerald F. Chernoff ◽  
Hector E. James
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Tube ◽  
Cortical Neurons ◽  
Chiari Malformation ◽  
Neural Tube Closure ◽  
Arnold Chiari Malformation ◽  
Wide Range ◽  
Tube Closure ◽  
Neural Tube Closure Defects

Abstract Complete gross and microscopic neuropathological examinations of 25 children who died with meningomyelocele, the Arnold-Chiari malformation, and hydrocephalus revealed a wide range and frequency of associated central nervous system malformations. The most remarkable of these anomalies were hypoplasia or aplasia of cranial nerve nuclei (20%), demonstrable obstruction of cerebrospinal fluid flow within the ventricular system (92%), cerebellar dysplasia (72%), a disorder of migration of cortical neurons (92%), fusion of the thalami (16%), agenesis of the corpus callosum (12%), and complete or partial agenesis of the olfactory tract and bulb (8%). The anomalies associated with posterior neural tube closure defects can no longer be considered secondary, but rather must be considered part of a spectrum of malformations caused by an unidentified primary insult to the central nervous system. The frequency and pattern of brain malformations associated with neural tube defects of some children with meningomyelocele suggest that such malformations may seriously affect intellectual outcome.

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