scholarly journals Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Gabriella D’Angelo ◽  
Lucia Marseglia ◽  
Salvatore Aversa ◽  
Sara Manti ◽  
Caterina Cuppari ◽  
...  
Keyword(s):  
Nervous System ◽  
Clinical Features ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Goldenhar Syndrome ◽  
Caudal Regression Syndrome ◽  
Bilateral Involvement ◽  
Oculoauriculovertebral Spectrum ◽  
Caudal Regression ◽  
Vertebral Defects

Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term “expanded Goldenhar complex” has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caudal regression, may, rarely, occur in this condition. We report two rare cases of infants affected by Goldenhar Syndrome, associated with neural tube defects, specifically caudal regression syndrome and nasal encephaloceles, to underline the extremely complex and heterogeneous clinical features of this oculoauriculovertebral spectrum. These additional particular cases could increase the number of new variable spectrums to be included in the “expanded Goldenhar complex.”

Paediatric neuroscience care

2020 ◽  
pp. 467-492
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Spinal Disorders ◽  
Adult Services ◽  
Central Nervous System Tumours ◽  
Basic Understanding ◽  
Craniofacial Syndromes

Paediatric neurology services care for children aged 0–16 years. Many of these children suffer genetic and complex neurological problems and frequently require life-long support. Hydrocephalus and central nervous system tumours are commonly presenting disorders; however, craniofacial syndromes, spinal disorders, spinal neural tube defects, epilepsy, and trauma including non-accidental injuries are frequently managed. Paediatric nurses specialize in the care of these children and support of their families but as they grow up and transition into adult services, it is the responsibility of general nurses to have a basic understanding of some of their conditions so they can maintain and continue their care.

THE PRENATAL MANAGEMENT OF NEURAL TUBE DEFECTS: TIME FOR A RE-APPRAISAL

2012 ◽  
Vol 23 (3-4) ◽  
pp. 158-186 ◽  
Author(s):  
MASAYUKI ENDO ◽  
TIM VAN MIEGHEM ◽  
ELISENDA EIXARCH ◽  
PAOLO DE COPPI ◽  
GUNNAR NAULAERS ◽  
...  
Keyword(s):  
Nervous System ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Animal Experiments ◽  
Surgical Techniques ◽  
Fetal Surgery ◽  
High Volume ◽  
Research Programmes ◽  
Fetal Repair ◽  
Upper Level

The prevalence of neural tube defects (NTD) in Europe is around 9 per 10,000 births making it one of the most frequent congential anomalies affecting the central nervous system. NTD encompass all anomalies that are secondary to failure of closure of the neural tube. In this review, we will first summarize the embryology and some epidemiologic aspects related to NTDs. The review focuses on myelomeningocele (MMC), which is the most common distal closure defect. We will describe the secondary pathologic changes in the central and peripheral nervous system that appear later on in pregnancy and contribute to the condition's morbidity. The postnatal impact of MMC mainly depends on the upper level of the lesion. In Europe, the vast majority of parents with a fetus with prenatally diagnosed NTDs, including MMC, opt for termination of pregnancy, as they are apparently perceived as very debilitating conditions. Animal experiments have shown that prenatal surgery can reverse this sequence. This paved the way for clinical fetal surgery resulting in an apparent improvement in outcome. The results of a recent randomized trial confirmed better outcomes after fetal repair compared to postnatal repair; with follow up for 30 months. This should prompt fetal medicine specialists to reconsider their position towards this condition as well as its prenatal repair. The fetal surgery centre in Leuven did not have a clinical programme for fetal NTD repair until the publication of the MOMS trial. In order to offer this procedure safely and effectively, we allied to a high volume centre willing to share its expertise and assist us in the first procedures. Given the maternal side effects of current open fetal surgical techniques, we have intensified our research programmes to explore minimally invasive alternatives. Below we will describe how we are implementing this.

Anatomical Evaluation of the Caudal Regression Syndrome (Lumbosacral Agenesis) with Magnetic Resonance Imaging

Neurosurgery ◽  
1989 ◽  
Vol 25 (3) ◽  
pp. 462-465 ◽  
Author(s):  
C. T. E. Pappas ◽  
Linda Seaver ◽  
Carlos Carrion ◽  
Harold Rekate
Keyword(s):  
Magnetic Resonance Imaging ◽  
Computed Tomography ◽  
Magnetic Resonance ◽  
Soft Tissues ◽  
Resonance Imaging ◽  
Caudal Regression Syndrome ◽  
Caudal Regression ◽  
Male Neonate ◽  
Vertebral Defects ◽  
Rule Out

Abstract Caudal regression syndrome involves absence of the sacrococcygeal vertebrae with or without lumbar vertebral defects. Since the neurological condition of infants with this syndrome deteriorates, radiographic studies are important to rule out any surgically correctable lesion. A paraplegic male neonate with a vertebral canal ending at T11 is presented. This is the first report of using magnetic resonance imaging to evaluate the spinal cord and surrounding soft tissues involved in this syndrome. Magnetic resonance imaging provides more anatomical details than myelogram with computed tomography, which greatly aids in determining whether surgery is necessary.

scholarly journals Histone methylations in the developing central nervous system and in neural tube defects

Neuroforum ◽  
2018 ◽  
Vol 24 (2) ◽  
pp. A85-A94
Author(s):  
Alejandro Villarreal ◽  
Henriette Franz ◽  
Tanja Vogel
Keyword(s):  
Gene Expression ◽  
Central Nervous System ◽  
Nervous System ◽  
Cell Differentiation ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
System Development ◽  
Epigenetic Modification ◽  
Nervous System Development ◽  
Central Nervous System Development

Abstract Understanding central nervous system genesis is of crucial relevance to decode different human diseases such as microcephaly or neural tube defects, which arise from incorrect developmental processes. Epigenetic mechanisms regulate gene expression in a spatio-temporal manner and are implicated in diverse cellular actions one of which is cell differentiation. Therefore, the study of these mechanisms is of great relevance in the context of development and disease. In this article, we will review histone methylations as epigenetic modification and how they impact on gene expression and cell differentiation in central nervous system development and neural differentiation. Further, we will discuss an emerging link between histone methylation in the etiology of neural tube defects. We will specifically highlight the role of the disruptor of telomeric silencing like 1 (DOT1L) and histone H3 lysine 79 methylation (H3K79me), which is an unusual histone modification with implication for proper central nervous system development.

scholarly journals Evaluation of Fetal Central Nervous System Anomalies; Perinatology Council Data of a Reference Center

2020 ◽  
Author(s):  
Meltem Koyuncu Arslan ◽  
Melek Akar ◽  
Halil Gürsoy Pala ◽  
Cüneyt Eftal Taner ◽  
Mehmet Yekta Öncel
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
High Risk ◽  
Pregnant Women ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Gestational Week ◽  
The Mean ◽  
Cns Anomalies

INTRODUCTION: Central nervous system (CNS) anomalies are the second most common congenital malformations detected during antenatal period. Rates of prenatal diagnosis are aroung 96% in anencephaly, but drops down to approximately 14 % in migration anomalies.We aimed to determine the frequency and features of CNS anomalies evaluated in the perinatology council of our hospital where high-risk pregnancies were discussed and also to emphasize the importance of antenatal diagnosis. METHODS: Pregnant women, with a CNS anomaly detected in their fetus, who were evaluated between January 2019-December 2019 in the perinatology council of Tepecik Training and Research Hospital were included in the study. Retrospectively, the records of the cases were examined, prenatal, and maternal risk factors at the time of council session, the council decision and the results were recorded. Statistical analyzes were done using SPSS 20.0 program. RESULTS: Data of 1272 pregnant women were evaluated in the study, and 261 cases (20.5%) with CNS anomalies were detected. A total of 129 pregnant women were excluded from the study because follow-up of these patients were not realized in our center or they didn’t give birth yet.. Totally, 132 pregnant women were included in the study. The mean maternal age was 26.99±6.50 (14-42) years, the mean gestational age was 22.63±7.08 (10.4-38.6) weeks. Most common CNS anomalies detected were neural tube defects (n=54; 40%), hydrocephalus/ventriculomegaly (n=36; 27%), migration defects (n=21; 15%) and cerebellar malformations (n=9; 6%). Termination of pregnancy was decided for 29.8% (n=78) of pregnant women, but realized only for 62 pregnancies. Among pregnancies which were decided to be continued due to the fact that gestational week was 22 weeks or more (n=51), had fetuses with neural tube defects (n=25; 50%) and hydrocephalus/ventriculomegaly (n=36; 27%) with poor prognosis. DISCUSSION AND CONCLUSION: As the anomalies with high morbidity and mortality were referred to our hospital after the 22nd gestational week, termination option could not be offered to these pregnancies. High-risk pregnancies should be directed to perinatology centers in the early period so that this option can be presented to the family, appropriate follow-up and treatment of life-compatible ones.

The clinical features of paediatric neural tube defects changed in a tertiary care centre between 1997 and 2015

2017 ◽  
Vol 106 (5) ◽  
pp. 837-840
Author(s):  
Nina Haarup Gregersen ◽  
Kolja Kvist ◽  
Klaus Hindsø ◽  
Alfred Peter Born ◽  
Christina Engel Hoei-Hansen
Keyword(s):  
Clinical Features ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Tertiary Care ◽  
Care Centre ◽  
Tertiary Care Centre
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