4,765 results match your criteria Encephalocele


[Post-traumatic orbital encephalocele].

Authors:
B Cohen A Lecler

J Fr Ophtalmol 2021 Jun 16. Epub 2021 Jun 16.

Service de radiologie, Fondation ophtalmologique Adolphe de Rothschild, 25-29, rue Manin, 75019 Paris, France.

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Clinico-epidemiological profile and outcomes of babies with neural tube defects in a tertiary care center in Northern India.

J Matern Fetal Neonatal Med 2021 Jun 13:1-6. Epub 2021 Jun 13.

Department of Neonatology, Dr Ram Manohar Lohia Hospital and Post Graduate Institute of Medical Education and Research, New Delhi, India, Atal Bihari Vajpayi Institute of Medical Sciences (ABVIMS) and Dr Ram Manohar Lohia Hospital, New Delhi, India.

Introduction: Neural tube defects constitute a major source of disability among children. Proper management requires accurate diagnosis, an assessment of the severity of the lesion, a decision whether intervention is warranted, the nature of the intervention, and educating the family of the need for lifelong medical care. But to do so, reliable data regarding presentation and outcome is very crucial. Read More

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The extracranial versus intracranial approach In frontoethmoidal encephalocele corrective surgery: a meta-analysis.

Neurosurg Rev 2021 Jun 13. Epub 2021 Jun 13.

Department of Neurosurgery, Universitas Airlangga Faculty of Medicine, Dr. Soetomo General Academic Hospital, Gedung Pusat Diagnostik Terpadu (GDC) Lantai 5, RSUD Dr. Soetomo Jl. Mayjen Prof Moestopo 6-8, Surabaya, Indonesia.

The debate between the extracranial and the intracranial approach for frontoethmoidal (FEE) encephalocele corrective surgery was not summarized yet. The extracranial approach is traditionally believed being inferior to the intracranial approach, but convincing evidence was missing. To provide robust evidence, we conducted a meta-analysis on the incidence of cerebrospinal fluid (CSF) leakage, its progression to infection, the reoperation to treat the leakage, and the recurrence rate between the two techniques. Read More

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Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.

Genet Test Mol Biomarkers 2021 Jun 4;25(6):445-451. Epub 2021 Jun 4.

Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.

Meckel-Gruber syndrome (MKS; OMIM No. 249000) is a rare, lethal disease characterized by occipital encephalocele, polycystic kidneys, and polydactyly. In this study, two fetuses diagnosed as having MKS in the prenatal period were evaluated on the basis of ultrasonographic findings, postmortem autopsy findings, and molecular genetic analyses. Read More

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Modified Transpterygoid Approach to Sphenoid Meningoencephaloceles: A Shorter Run for a Longer Slide.

Laryngoscope 2021 Jun 7. Epub 2021 Jun 7.

Head and Neck Institute, Cleveland Clinic, Cleveland, Ohio, U.S.A.

Objectives: Cerebrospinal fluid (CSF) leaks and meningoencephaloceles originating in the lateral recess of the sphenoid sinus can be challenging. The traditional transpterygoid approach through the pterygopalatine fossa (PPF) is time consuming and places important structures at risk, which can lead to significant morbidity. We report a multi-institutional experience using a simplified, endoscopic modified transpterygoid approach (MTPA), which spares the PPF contents in the management of lateral sphenoid sinus meningoencephaloceles and CSF leaks. Read More

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Clinical Utility and the Yield of Single Nucleotide Polymorphism Array in Prenatal Diagnosis of Fetal Central Nervous System Abnormalities.

Front Mol Biosci 2021 18;8:666115. Epub 2021 May 18.

Department of the Prenatal Diagnosis Center, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.

Applying single nucleotide polymorphism (SNP) array to identify the etiology of fetal central nervous system (CNS) abnormality, and exploring its association with chromosomal abnormalities, copy number variations, and obstetrical outcome. 535 fetuses with CNS abnormalities were analyzed using karyotype analysis and SNP array. Among the 535 fetuses with CNS abnormalities, chromosomal abnormalities were detected in 36 (6. Read More

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Combined transnasal and transoral surgery for congenital skull base defects in infants.

Authors:
S Y Chung D A Gudis

Eur Ann Otorhinolaryngol Head Neck Dis 2021 May 31. Epub 2021 May 31.

Department of Otolaryngology - Head and Neck Surgery, New York-Presbyterian Hospital Columbia University Medical Center, New York, NY, USA. Electronic address:

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Frontoethmoidal Encephalomeningocele Correction by Medial Orbital Composite-Unit Translocation Technique: 13 Years of Siriraj Hospital Experience.

J Craniofac Surg 2021 May 25. Epub 2021 May 25.

Division of Plastic Surgery, Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Abstract: Frontoethmoidal encephalomeningocele (FEEM) is a congenital anomaly involving herniation of the glial tissues and the meninges. Our unit implemented single-stage repair in 1996, and this was followed by the introduction of the medial orbital composite-unit translocation (MOCUT) technique for encephalocele repair in 2001. This report describes the long-term outcomes of patients who underwent the MOCUT technique. Read More

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Gene Environment Interactions in the Etiology of Neural Tube Defects.

Front Genet 2021 10;12:659612. Epub 2021 May 10.

Department of Molecular and Cellular Biology, Center for Precision Environmental Health, Baylor College of Medicine, Houston, TX, United States.

Human structural congenital malformations are the leading cause of infant mortality in the United States. Estimates from the United States Center for Disease Control and Prevention (CDC) determine that close to 3% of all United States newborns present with birth defects; the worldwide estimate approaches 6% of infants presenting with congenital anomalies. The scientific community has recognized for decades that the majority of birth defects have undetermined etiologies, although we propose that environmental agents interacting with inherited susceptibility genes are the major contributing factors. Read More

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Orbital varix: A rare case of unilateral exophthalmos, case report.

Ann Med Surg (Lond) 2021 Jun 29;66:102346. Epub 2021 Apr 29.

Faculty of Medicine and Pharmacy, Hassan II University of Casablanca, B.P 5696, Casablanca, Morocco.

The etiologies of unilateral exophthalmos are multiple, rarely represented by an intra- or extra-conical vascular mass. Orbito-palpebral varixes are rare (2% of orbital masses) and represent a main cause of unilateral intermittent exophthalmos, often of an inflammatory nature. We report a Case of right orbito-palpebral varix in a 65-year-old adult, with no particular history, evolving for 2 years. Read More

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MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico.

Congenit Anom (Kyoto) 2021 May 20. Epub 2021 May 20.

Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, "Dr. Juan I. Menchaca", Civil Hospital of Guadalajara, Guadalajara, Mexico.

Our study investigated the role of MTHFR C677T and A1298C variants in infants with neural tube defects (NTDs) from western Mexico. Using TaqMan allelic discrimination assay, we genotyped 101 live-born patients with NTDs (cases) and 247 controls. Our findings do not support that homozygosity or heterozygosity for the variants C677T and A1298C in the MTHFR gene are associated with NTDs in infants. Read More

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A Rare Case of Intracerebral Pneumocephalus Caused by Preexisting Multiple Bone Defects and Encephalocele after Resection of Meningioma.

NMC Case Rep J 2021 Apr 2;8(1):39-44. Epub 2021 Apr 2.

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

Pneumocephalus is generally secondary to direct damage to the skull base. Spontaneous intracerebral pneumatocele without head injury was extremely rare, but previously reported as a serious complication of shunt procedures. We describe a 40-year-old man with intracerebral pneumocephalus who previously underwent craniotomy for large frontal convexity meningioma and lumbo-peritoneal shunting. Read More

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Encephalocele-Associated Drug-Resistant Epilepsy of Adult Onset: Diagnosis, Management, and Outcomes.

World Neurosurg 2021 May 5;151:91-101. Epub 2021 May 5.

Department of Neurologic Surgery, Mayo Clinic, Jacksonville, Florida, USA. Electronic address:

Epileptogenic encephaloceles, most frequently located in the temporal lobe, are a known lesional cause of focal epilepsy. Data are limited regarding diagnosis, management, and outcomes of patients with epilepsy in the setting of an encephalocele, because the literature mostly comprises case reports, case series, and retrospective studies. We conducted a broad literature review for articles related to encephaloceles and epilepsy regardless of level of evidence. Read More

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Preoperative Planning Modalities for Meningoencephalocele: New Proof of Concept.

World Neurosurg 2021 May 5;151:124-131. Epub 2021 May 5.

Division of Neurosurgery, Santa Marcelina Hospital, São Paulo, São Paulo, Brazil; Division of Craniofacial Surgery, Sabará Children's Hospital, São Paulo, São Paulo, Brazil; Faculty of Medicine, Federal University of ABC, Santo André, São Paulo, São Paulo, Brazil; Division of Plastic Surgery, Santa Marcelina Hospital, São Paulo, São Paulo, Brazil.

Objective: Late surgical correction of meningoencephalocele is a rare scenario that remains challenging for surgeons. Three-dimensional models can mimic the correct anatomical relationships, and technological systems have brought advances to medicine. This study aims to present a novel preoperative planning modality that combines augmented reality with a hybrid model for complex malformation associated with late correction. Read More

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Seromucinous hamartoma of ethmoid sinus in pediatric patient (case report).

Int J Surg Case Rep 2021 May 27;82:105915. Epub 2021 Apr 27.

Dar AlUloom University, Riyadh, Saudi Arabia.

Introduction And Importance: Seromucinous hamartoma is a rare benign glandular proliferation arising from the respiratory epithelium, which was originally described by Baillie and Batsakis in 1974. Since this time, case reports started to be published on SH, as a middle aged and elderly disease, here we report a case of a pediatric patient who found to have SH.

Presentation Of The Case: 2-year-old girl, brought by her parent with a complain of a mass at the right medial canthal area for one year. Read More

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Outcomes of Chiari Malformation III: A Review of Literature.

J Pediatr Neurosci 2020 Oct-Dec;15(4):358-364. Epub 2021 Jan 19.

Department of Neurosurgery, Cairo University, Giza, Egypt.

Purpose: Chiari malformation type III (CM III) is the rarest type compared to other types of CMs. CM III usually reported as sporadic case reports which reflect the rarity of this anomaly. We report two cases of operated CM III at our institute with a reasonable outcome and reviewed the literature to illustrate the variability of prognosis and related hydrocephalus. Read More

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January 2021

Posterior occipital gunshot wound causing orbital roof blow-in fracture with encephalocele.

Authors:
N Callahan L Moles

Int J Oral Maxillofac Surg 2021 Apr 28. Epub 2021 Apr 28.

Department of Oral and Maxillofacial Surgery, University of Illinois at Chicago, Chicago, Illinois, USA.

Isolated orbital roof fractures are rare fractures that usually occur in conjunction with other facial bone fractures during high velocity trauma. This report concerns a patient with an isolated orbital roof fracture with encephalocele, including its diagnosis, surgical management, and clinical follow-up. This case required a multidisciplinary approach to safely repair the fracture, reduce the encephalocele, restore the orbital volume, and restore the patient's form and function. Read More

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Chiari Malformation Type III: A Case Report and Review of Literature.

Cureus 2021 Mar 26;13(3):e14131. Epub 2021 Mar 26.

Neurology, Universidad San Francisco de Quito, Quito, ECU.

Chiari malformations (CMs) are a group of disorders involving deformities of the posterior fossa and hindbrain. There are seven types of CMs: 0, I, 1.5, II, III, IV, and V. Read More

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Surgical repair of a meningoencephalocoele in a kākāpō ().

N Z Vet J 2021 Jul 28;69(4):247-254. Epub 2021 Apr 28.

The Nest Te Kōhanga, Wellington Zoo, Wellington, New Zealand.

Case History: A kākāpō () chick hatched on an off-shore island of New Zealand with a small white mass protruding through the cranial skin of the head. The chick's growth followed a normal pattern for kākāpō but at 3 weeks of age the cranium mass was non-reducible and fixed in place and the chick was removed from the island for diagnostic imaging and hand-rearing.

Clinical Findings And Treatment: A computed tomography (CT) examination revealed a full-thickness circular defect in the central cranium with suspected herniation of brain and dura. Read More

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Temporal encephaloceles can be missed in patients with refractory temporal lobe epilepsy.

Epilepsy Res 2021 Jul 20;173:106640. Epub 2021 Apr 20.

Hacettepe University Faculty of Medicine, Department of Neurology, Ankara, Turkey.

Temporal encephaloceles (TEs) are one of the cause of refractory temporal lobe epilepsy (TLE). We reviewed the neuroimaging and video-electroencephalography (EEG) records of epilepsy patients who underwent temporal lobectomy in our center to investigate frequency of TEs. We retrospectively reevaluated 294 patients who underwent epilepsy surgery in our tertiary epilepsy centre between January 2010 and March 2019 and included 159 patients (78 females, 49 %; 81 males) who had temporal lobectomy. Read More

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Brain Herniation and Intracranial Hypertension.

Neurol Clin 2021 05 31;39(2):293-318. Epub 2021 Mar 31.

Department of Neurology, Tufts University School of Medicine, Tufts Medical Center, 800 Washington Street, Box#314, Boston, MA 02111, USA.

This article introduces the basic concepts of intracranial physiology and pressure dynamics. It also includes discussion of signs and symptoms and examination and radiographic findings of patients with acute cerebral herniation as a result of increased as well as decreased intracranial pressure. Current best practices regarding medical and surgical treatments and approaches to management of intracranial hypertension as well as future directions are reviewed. Read More

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Unexpected pain with electrocortical stimulation in a teenager with temporal encephalocele.

Epilepsy Behav Rep 2021 31;16:100444. Epub 2021 Mar 31.

Department of Neurology, University of Wisconsin-Madison School of Medicine and Public Health, 1685 Highland Ave, Madison, WI 53705, United States.

Temporal lobe encephalocele has emerged as a potentially unrecognized cause of drug-resistant temporal lobe epilepsy (TLE) that can be effectively treated with epilepsy surgery. Here we present a case in which a 17-year-old male with drug-resistant epilepsy and left temporal encephalocele underwent workup for epilepsy surgery, and experienced unexpected pain with electrocortical stimulation. Stimulation of stereo-EEG electrodes in the left temporal pole resulted in severe, unilateral left-sided facial pain due to inadvertent stimulation of the trigeminal nerve. Read More

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Nasal glial heterotopia: A rare interdisciplinary surgical challenge in newborns.

Pediatr Med Chir 2021 Apr 20;43(1). Epub 2021 Apr 20.

Department of Pediatric and Adolescent Surgery.

Nasal Glioma (NG) represents a rare congenital abnormality of the neonate, which can be associated with skull defects or even a direct communication to the central nervous system. MRI serves valuable information for differentiation from encephalocele, dermoid cyst and congenital hemangioma. Complete resection remains the treatment of choice. Read More

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Repair of Giant Anterior Skull Base Encephalocele Containing Intralesional Eloquent Brain: Technical Note.

Oper Neurosurg (Hagerstown) 2021 Apr 16. Epub 2021 Apr 16.

Department of Neurosurgery, The Johns Hopkins University School of Medicine, Baltimore, Maryland.

Background: Encephaloceles are herniations of intracranial neural tissue and meninges through defects in the skull. Basal encephaloceles are rare anterior skull base defects incident in 1 in 35,000 live births. Sphenoethmoidal encephaloceles are even more uncommon, with an incidence of 1 in 700,000 live births. Read More

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Rare case of bilateral petrous apex cephalocele.

BMJ Case Rep 2021 Apr 14;14(4). Epub 2021 Apr 14.

Department of Urology, AIIMS Bhopal, Bhopal, Madhya Pradesh, India

The petrous apex is a pyramidal-shaped structure which is difficult to examine due to difficult anatomical location. Lesions in the petrous apex can be managed surgically or they can be incidental lesions, which are managed conservatively. Petrous apex cephaloceles (PAC) are the cystic lesion due to herniation in the Meckel's cave of temporal bone. Read More

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Unusual Presentation of a Sphenoidal Sinus Neuroendocrine Tumor: A Case Report and Review of Literature.

Cureus 2021 Mar 4;13(3):e13689. Epub 2021 Mar 4.

Hematology and Medical Oncology, Saint Joseph Mercy Oakland Hospital, Pontiac, USA.

Neuroendocrine tumors (NETs) have a heterogeneous pathology and indolent behavior, with the most common location being the gastrointestinal tract and then the lungs. The head and neck are rare sites of NET presentation with varied clinical signs and symptoms, which occasionally delay the diagnosis, thereby leading to an advanced stage at presentation. We present a rare case of paranasal sinus small cell neuroendocrine tumor and perform a review of the literature. Read More

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A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management.

Neurol Sci 2021 Apr 6. Epub 2021 Apr 6.

Department of Neurosurgery, IRCCS Istituto Giannina Gaslini Children's Hospital, Genoa, Italy.

Morning glory disc anomaly is a congenital abnormality of the optic disc and peripapillary retina reported as an isolated condition or associated with various anomalies, including basal encephaloceles and moyamoya vasculopathy. However, the co-occurrence of these three entities is extremely rare and the pathogenesis is still poorly understood. Moreover, data on the surgical management and long-term follow-up of the intracranial anomalies are scarce. Read More

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CT of Skull Base Fractures: Classification Systems, Complications, and Management.

Radiographics 2021 May-Jun;41(3):762-782. Epub 2021 Apr 2.

From the Department of Diagnostic Radiology and Nuclear Medicine (D.D., K.C., D.G., R.E.M.), R. Adams Cowley Shock Trauma Center (D.D., B.A., A.J.N.), Department of Neurosurgery (B.A.), Division of Plastic Surgery (A.J.N.), and Department of Otorhinolaryngology-Head and Neck Surgery (D.J.E.), University of Maryland Medical Center, 22 S Greene St, Baltimore, MD 21201; Department of Radiology, Boston Medical Center, Boston University School of Medicine, Boston, Mass (O.S.); and Department of Diagnostic Radiology and Nuclear Medicine, University of Maryland School of Medicine, Baltimore, MD (K.C.).

As advances in prehospital and early hospital care improve survival of the head-injured patient, radiologists are increasingly charged with understanding the myriad skull base fracture management implications conferred by CT. Successfully parlaying knowledge of skull base anatomy and fracture patterns into precise actionable clinical recommendations is a challenging task. The authors aim to provide a pragmatic overview of CT for skull base fractures within the broader context of diagnostic and treatment planning algorithms. Read More

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Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.

Eur J Med Genet 2021 Jun 30;64(6):104212. Epub 2021 Mar 30.

Departments of Gynecology and Obstetrics, The Sixth Medical Center of PLA General Hospital, Beijing, 100048, China.

Backgroud: Joubert syndrome is a rare neurodevelopmental disorder characterized by clinical and genetic heterogeneity. The characteristic molar tooth sign, which resulted from cerebellar vermis hypoplasia and midbrain anomalies, is expected to be the key diagnostic feature for this disease. However, it is not easy to make a definite diagnosis in prenatal only based on the imageology due to its clinical heterogeneity. Read More

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