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Current Pediatric Reviews 2020To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele. (Review)
Review
AIMS
To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele.
BACKGROUND
Encephalocele (E) is a defect of the neural tube that refers to congenital malformations featured by skull defect and dura with extracranial spread of intracranial structures. Occipital encephalocele (OE) are the most common form of this congenital disorder and are manifested as a swelling of different sizes over the occipital bone in the midline. Proper diagnosis and treatment is highly important in the management of this congenital malformation of brain.
OBJECTIVE
To review and present the current knowledge of incidence, signs and symptoms, diagnosis and treatment of the occipital encephalocele.
METHODS
We conducted a search of case reports or case-series of patients by the use of electronic databases: Pub Med, Medline, Index Medicus, Scorpus. The key words were: encephalocele, occipital encephalocele, neural tube defect, congenital malformation. The search was updated to December 31, 2018. Papers published in English were the only source of information.
RESULTS
Occipital encephalocelle are more frequent in females than in males. The incidence is between 1 in 3000 to 1 in 10,000 live births; approximately 90% of them involve the midline. Magnetic resonance imaging is the method of choice in diagnosis and surgery is the best option for the treatment of OE. Overall morbidity and mortality is still high in spite of advenced surgical management, but have been significantly improved in recent years thanks to sophisticated highresolution imaging, adequate and proper surgical treatment and decent post-operative care.
CONCLUSION
Occipital encephalocele is the most common form of encephalocele. The diagnosis is mostly based by the use of neuroimaging techniques. Operation is the best option for treatment. Overall morbidity and mortality is still high, but have been significantly improved in recent years thanks to sophisticated high-resolution imaging, adequate and proper surgical treatment and decent post-operative care.
Topics: Encephalocele; Humans; Incidence; Neuroimaging; Neurosurgical Procedures; Occipital Bone; Prognosis
PubMed: 31656152
DOI: 10.2174/1573396315666191018161535 -
Critical Care (London, England) Mar 2019Severe traumatic injury continues to present challenges to healthcare systems around the world, and post-traumatic bleeding remains a leading cause of potentially...
BACKGROUND
Severe traumatic injury continues to present challenges to healthcare systems around the world, and post-traumatic bleeding remains a leading cause of potentially preventable death among injured patients. Now in its fifth edition, this document aims to provide guidance on the management of major bleeding and coagulopathy following traumatic injury and encourages adaptation of the guiding principles described here to individual institutional circumstances and resources.
METHODS
The pan-European, multidisciplinary Task Force for Advanced Bleeding Care in Trauma was founded in 2004, and the current author group included representatives of six relevant European professional societies. The group applied a structured, evidence-based consensus approach to address scientific queries that served as the basis for each recommendation and supporting rationale. Expert opinion and current clinical practice were also considered, particularly in areas in which randomised clinical trials have not or cannot be performed. Existing recommendations were re-examined and revised based on scientific evidence that has emerged since the previous edition and observed shifts in clinical practice. New recommendations were formulated to reflect current clinical concerns and areas in which new research data have been generated.
RESULTS
Advances in our understanding of the pathophysiology of post-traumatic coagulopathy have supported improved management strategies, including evidence that early, individualised goal-directed treatment improves the outcome of severely injured patients. The overall organisation of the current guideline has been designed to reflect the clinical decision-making process along the patient pathway in an approximate temporal sequence. Recommendations are grouped behind the rationale for key decision points, which are patient- or problem-oriented rather than related to specific treatment modalities. While these recommendations provide guidance for the diagnosis and treatment of major bleeding and coagulopathy, emerging evidence supports the author group's belief that the greatest outcome improvement can be achieved through education and the establishment of and adherence to local clinical management algorithms.
CONCLUSIONS
A multidisciplinary approach and adherence to evidence-based guidance are key to improving patient outcomes. If incorporated into local practice, these clinical practice guidelines have the potential to ensure a uniform standard of care across Europe and beyond and better outcomes for the severely bleeding trauma patient.
Topics: Blood Coagulation; Encephalocele; Europe; Evidence-Based Medicine; Guidelines as Topic; Hemorrhage; Humans; Respiration, Artificial; Wounds and Injuries
PubMed: 30917843
DOI: 10.1186/s13054-019-2347-3 -
Ultrasound in Obstetrics & Gynecology :... Feb 2021Most brain abnormalities are present in the first trimester, but only a few are detected so early in gestation. According to current recommendations for first-trimester... (Review)
Review
Most brain abnormalities are present in the first trimester, but only a few are detected so early in gestation. According to current recommendations for first-trimester ultrasound, the fetal head structures that should be visualized are limited to the cranial bones, the midline falx and the choroid-plexus-filled ventricles. Using this basic approach, almost all cases of acrania, alobar holoprosencephaly and cephalocele are detected. However, the majority of other fetal brain abnormalities remain undiagnosed until the midtrimester. Such anomalies would be potentially detectable if the sonographic study were to be extended to include additional anatomic details not currently included in existing guidelines. The aim of this review article is to describe how best to assess the normal fetal brain by first-trimester expert multiplanar neurosonography and to demonstrate the early sonographic findings that characterize some major fetal brain abnormalities. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Encephalocele; Female; Fetus; Holoprosencephaly; Humans; Nervous System Malformations; Pregnancy; Pregnancy Trimester, First; Ultrasonography, Prenatal
PubMed: 33049801
DOI: 10.1002/uog.23149 -
European Review For Medical and... Aug 2022Encephalocele is a rare congenital neural tube defect (NTD) characterized by herniation of intracranial contents through a defect in the skull. In our study,...
OBJECTIVE
Encephalocele is a rare congenital neural tube defect (NTD) characterized by herniation of intracranial contents through a defect in the skull. In our study, encephalocele was diagnosed in our clinic and its association with hydrocephalus was evaluated. The effect of this association on the prognosis was discussed.
PATIENTS AND METHODS
Patients who underwent surgery and follow-up with the diagnosis of encephalocele in the neurosurgery clinic of our hospital in an 8-year period from 2013 to 2021 were retrospectively examined.
RESULTS
Patient records were obtained from the case notes of patients who underwent excision and repair for encephalocele. Of the 78 patients included in the study, 88.4% underwent surgery in the neonatal period. Moreover, 47% of the patients are male, and 31% are female. Encephalocele was present in 62.8% of patients and meningocele in 37.2%. Furthermore, 82.1% of encephalocele sacs were located in the occipital region. Chiari type 3 malformation was present in 57.6% of patients. Hydrocephalus developed in 56.4% of patients. There was an additional syndrome in 10.3% of the cases. The most common additional syndromes were corpus callosum dysgenesis with 39.7% and colpocephaly with 29.5%. The additional disease was present in 43.6% of patients. Preoperative and postoperative examination findings of more than half of patients were normal, but 33.3% were apathetic. Furthermore, 67.9% of patients, who underwent complete repair, survived, and 32.1% died. Hydrocephalus was present in 73.5% of patients with encephalocele (p<0.05). Hydrocephalus developed in 77.8% of patients with Chiari type 3 malformation (p<0.05). Hydrocephalus was found in 88.0% of patients with Ex (p<0.05).
CONCLUSIONS
Encephalocele, which is a subgroup of NTD, differs clinically by its location and accompanying additional anomalies. In encephaloceles, the risk of morbidity and mortality can only be reduced with the multidisciplinary approach. Hydrocephalus and Chiari type 3 malformation are common in patients with encephalocele. These associations adversely affect the prognosis of the disease. Further research should be conducted on the evaluation of risk factors of NTD and methods of prevention from NTD. In this regard, we recommend that the training be repeated at certain intervals and that people's awareness should be raised.
Topics: Encephalocele; Female; Humans; Hydrocephalus; Infant, Newborn; Male; Neural Tube Defects; Prognosis; Retrospective Studies
PubMed: 35993634
DOI: 10.26355/eurrev_202208_29407 -
Genome Biology Nov 2016Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically...
BACKGROUND
Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome, pleiotropy, and variable expressivity remains incomplete.
RESULTS
We applied genomic approaches on a large patient cohort of 371 affected individuals from 265 families, with phenotypes that span the entire ciliopathy spectrum. Likely causal mutations in previously described ciliopathy genes were identified in 85% (225/265) of the families, adding 32 novel alleles. Consistent with a fully penetrant model for these genes, we found no significant difference in their "mutation load" beyond the causal variants between our ciliopathy cohort and a control non-ciliopathy cohort. Genomic analysis of our cohort further identified mutations in a novel morbid gene TXNDC15, encoding a thiol isomerase, based on independent loss of function mutations in individuals with a consistent ciliopathy phenotype (Meckel-Gruber syndrome) and a functional effect of its deficiency on ciliary signaling. Our study also highlighted seven novel candidate genes (TRAPPC3, EXOC3L2, FAM98C, C17orf61, LRRCC1, NEK4, and CELSR2) some of which have established links to ciliogenesis. Finally, we show that the morbid genome of ciliopathies encompasses many founder mutations, the combined carrier frequency of which accounts for a high disease burden in the study population.
CONCLUSIONS
Our study increases our understanding of the morbid genome of ciliopathies. We also provide the strongest evidence, to date, in support of the classical Mendelian inheritance of Bardet-Biedl syndrome and other ciliopathies.
Topics: Alleles; Cilia; Ciliary Motility Disorders; Ciliopathies; DNA Mutational Analysis; Encephalocele; Genetic Association Studies; Genetic Heterogeneity; Genetic Predisposition to Disease; Humans; Mutation; Phenotype; Polycystic Kidney Diseases; Retina; Retinitis Pigmentosa
PubMed: 27894351
DOI: 10.1186/s13059-016-1099-5 -
Neurology India 2020
Topics: Child; Child, Preschool; Encephalocele; Failure to Thrive; Humans; Infant; Infant, Newborn; Intellectual Disability; Meningocele; Neurosurgical Procedures; Scalp; Skull
PubMed: 32129233
DOI: 10.4103/0028-3886.279713 -
Journal of Integrative Neuroscience May 2023Craniofacial encephaloceles are rare, yet highly debilitating neuroanatomical abnormalities that result from herniation of neural tissue through a bony defect and can... (Review)
Review
Craniofacial encephaloceles are rare, yet highly debilitating neuroanatomical abnormalities that result from herniation of neural tissue through a bony defect and can lead to death, cognitive delay, seizures, and issues integrating socially. The etiology of encephaloceles is still being investigated, with evidence pointing towards the Sonic Hedgehog pathway, Wnt signaling, glioma-associated oncogene (GLI) transcription factors, and G protein-coupled receptors within primary cilia as some of the major genetic regulators that can contribute to improper mesenchymal migration and neural tube closure. Consensus on the proper approach to treating craniofacial encephaloceles is confounded by the abundance of surgical techniques and parameters to consider when determining the optimal timing and course of intervention. Minimally invasive approaches to encephalocele and temporal seizure treatment have increasingly shown evidence of successful intervention. Recent evidence suggests that a single, two-stage operation utilizing neurosurgeons to remove the encephalocele and plastic surgeons to reconstruct the surrounding tissue can be successful in many patients. The HULA procedure (H = hard-tissue sealant, U = undermine and excise encephalocele, L = lower supraorbital bar, A = augment nasal dorsum) and endoscopic endonasal surgery using vascularized nasoseptal flaps have surfaced as less invasive and equally successful approaches to surgical correction, compared to traditional craniotomies. Temporal encephaloceles can be a causative factor in drug-resistant temporal seizures and there has been success in curing patients of these seizures by temporal lobectomy and amygdalohippocampectomy, but magnetic resonance-guided laser interstitial thermal therapy has been introduced as a minimally invasive method that has shown success as well. Some of the major concerns postoperatively include infection, cerebrospinal fluid (CSF) leakage, infringement of craniofacial development, elevated intracranial pressure, wound dehiscence, and developmental delay. Depending on the severity of encephalocele prior to surgery, the surgical approach taken, any postoperative complications, and the age of the patient, rehabilitation approaches may vary.
Topics: Humans; Encephalocele; Hedgehog Proteins; Seizures; Endoscopy; Magnetic Resonance Imaging
PubMed: 37258446
DOI: 10.31083/j.jin2203079 -
Acta Neuropathologica Communications Aug 2014We explored the prevalence of syringomyelia in a series of 113 cases of fetal dysraphism and hindbrain crowding, of gestational age ranging from 17.5 to 34 weeks with...
We explored the prevalence of syringomyelia in a series of 113 cases of fetal dysraphism and hindbrain crowding, of gestational age ranging from 17.5 to 34 weeks with the vast majority less than 26 weeks gestational age. We found syringomyelia in 13 cases of Chiari II malformations, 5 cases of Omphalocele/Exostrophy/Imperforate anus/Spinal abnormality (OEIS), 2 cases of Meckel Gruber syndrome and in a single pair of pyopagus conjoined twins. Secondary injury was not uncommon, with vernicomyelia in Chiari malformations, infarct like histology, or old hemorrhage in 8 cases of syringomyelia. Vernicomyelia did not occur in the absence of syrinx formation. The syringes extended from the sites of dysraphism, in ascending or descending patterns. The syringes were usually in a major proportion anatomically distinct from a dilated or denuded central canal and tended to be dorsal and paramedian or median. We suggest that fetal syringomyelia in Chiari II malformation and other dysraphic states is often established prior to midgestation, has contributions from the primary malformation as well as from secondary in utero injury and is anatomically and pathophysiologically distinct from post natal syringomyelia secondary to hindbrain crowding.
Topics: Anus, Imperforate; Arnold-Chiari Malformation; Ciliary Motility Disorders; Encephalocele; Fetus; Gestational Age; Hernia, Umbilical; Humans; Polycystic Kidney Diseases; Retinitis Pigmentosa; Scoliosis; Syringomyelia; Urogenital Abnormalities
PubMed: 25092126
DOI: 10.1186/s40478-014-0091-0 -
Tidsskrift For Den Norske Laegeforening... Nov 2019
Topics: Craniotomy; Encephalocele; Humans; Postoperative Complications
PubMed: 31686474
DOI: 10.4045/tidsskr.19.0144 -
Anesthesiology May 2014
Topics: Anesthesia, Epidural; Anesthesia, Obstetrical; Encephalocele; Humans; Intracranial Pressure; Risk Assessment; Spinal Puncture
PubMed: 24755789
DOI: 10.1097/ALN.0000000000000164