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Encephalocele

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https://www.readbyqxmd.com/read/29737743/-clinical-experience-of-resection-for-nasal-skull-base-tumors-by-microsurgical-assisted-technique
#1
Xin Jie Zhu, Zhi Bin Chen
OBJECTIVES: To investigate the application of the microsurgical treatment in nasal skull-base tumors resection. METHODS: In a retrospective study, totally 15 cases with tumors in the nasal skull-base received microsurgical-assisted treatment in our department from February 2012 to June 2017 were analysed. Lateral rhinotomy approach was carried out in 11 patients and posterior wall of the maxillary sinus approach in 4 patients. RESULTS: Tumors of all cases were completely resected under the microscope...
March 2018: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29732314/modified-two-flap-palatoplasty-in-asymptomatic-transsphenoidal-encephalocele-a-case-report
#2
Sunil Richardson, Rakshit Vijay Khandeparker, Ajit Kumar Raghuvaram, Ram Mohan
About one-third of patients with transsphenoidal basal encephaloceles have associated congenital anomalies, including cleft palate. Moreover, they are often plagued by symptomatic exacerbations in the form of upper respiratory obstructions, cerebrospinal fluid leaks, meningitis, etc., with few patients being asymptomatic. We herein present a rare asymptomatic case of transsphenoidal basal encephalocele in an 18-month-old child with cleft palate and highlight a modified version of two-flap palatoplasty.
April 2018: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/29713643/magnitude-of-neural-tube-defects-and-associated-risk-factors-at-three-teaching-hospitals-in-addis-ababa-ethiopia
#3
Abel Gedefaw, Sisay Teklu, Birkneh Tilahun Tadesse
There is scarcity of data on prevalence of neural tube defects (NTDs) in lower-income countries. Local data are important to understand the real burden of the problem and explore risk factors to design and implement preventive approaches. This study aimed to determine prevalence and risk factors of NTDs. A hospital-based cross-sectional and unmatched case-control study was conducted at three teaching hospitals of Addis Ababa University. NTDs were defined as cases of anencephaly, spina bifida, and encephalocele based on ICD-10 criteria...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29682014/neurosurgical-interventions-for-occipital-encephalocele
#4
Lal Rehman, Ghulam Farooq, Irum Bukhari
Aims and Objectives: The aim of this study is to find the outcome of repair and resection of the occipital encephalocele. Study Design: Case series. Materials and Methods: The clinical data of fifty consecutive occipital encephalocele patients were retrieved from medical records including operative notes, postoperative follow-up visits, and postsurgical complications were noted for analysis from November 2009 to November 2013 at the Department of Neurosurgery, Jinnah Postgraduate Medical Centre, Karachi, Pakistan...
April 2018: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29668049/surgical-management-of-spontaneous-cerebrospinal-fistulas-and-encephaloceles-of-the-temporal-bone
#5
Joe Walter Kutz, Andrew K Johnson, Cameron C Wick
OBJECTIVES/HYPOTHESIS: To describe the presentation, surgical findings, and outcomes in patients with spontaneous temporal bone cerebrospinal fluid (CSF) fistulas and encephaloceles. STUDY DESIGN: Retrospective chart review. METHODS: A retrospective chart review of patients treated for a spontaneous temporal bone CSF fistula and/or encephalocele over a 10-year period was performed. Data recorded included demographic information, presenting signs and symptoms, radiographic and laboratory studies, surgical approach, materials used for repair, surgical complications, and successful closure of the CSF fistula...
April 18, 2018: Laryngoscope
https://www.readbyqxmd.com/read/29620651/treatment-of-giant-cavernous-aneurysm-in-an-elderly-patient-via-extracranial-intracranial-saphenous-vein-bypass-graft-in-a-hybrid-operating-room-a-case-report
#6
Can Xin, Jianjian Zhang, Zhengwei Li, Zhongwei Xiong, Bangkun Yang, Xiaolin Wu, Hao Wang, Yichun Zou, Rongqing Wu, Wenyuan Zhao, Jincao Chen
RATIONALE: Extracranial-intracranial saphenous vein bypass (EC-IC SVB) remains indispensable for treating giant cavernous aneurysms. We report an unusual case of a giant cavernous aneurysm in an elderly patient treated with EC-IC SVB in a hybrid operating room. Immediately following proximal ligation of the internal carotid artery (ICA), she suffered an acute intraoperative encephalocele. PATIENT CONCERNS: A 71-year-old woman had suffered from severe headache and double vision for 4 months...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29610064/frontoethmoidal-encephalocele-report-of-a-case
#7
Angel Horcajadas, Antonio Palma, Babar M Khalon
Encephaloceles are uncommon in western countries and most cases are located in the occipital bone. Frontal encephaloceles may involve the ethmoid bone, nasal bones and/or the orbits. Surgical repair is complex and usually requires a multidisciplinary approach. The goal of the surgery is to reconstruct the normal anatomy, to achieve a good cosmetic repair and to avoid a cerebrospinal fluid leak. We present a case of a patient with a large congenital frontoethmoidal encephalocele. Autologous calvarian bone grafts were used to repair of encephalocele defect and for the reconstruction of the frontonasal area...
March 30, 2018: Neurocirugía
https://www.readbyqxmd.com/read/29534521/epilepsy-surgery-for-skull-base-temporal-lobe-encephaloceles-should-we-spare-the-hippocampus-from-resection
#8
Firas Bannout, Sheri Harder, Michael Lee, Alexander Zouros, Ravi Raghavan, Travis Fogel, Kenneth De Los Reyes, Travis Losey
The neurosurgical treatment of skull base temporal encephalocele for patients with epilepsy is variable. We describe two adult cases of temporal lobe epilepsy (TLE) with spheno-temporal encephalocele, currently seizure-free for more than two years after anterior temporal lobectomy (ATL) and lesionectomy sparing the hippocampus without long-term intracranial electroencephalogram (EEG) monitoring. Encephaloceles were detected by magnetic resonance imaging (MRI) and confirmed by maxillofacial head computed tomography (CT) scans...
March 12, 2018: Brain Sciences
https://www.readbyqxmd.com/read/29505469/nasal-glioma-a-rare-cause-of-congenital-inner-canthal-swelling
#9
Norman C Charles, Richard D Lisman, Payal Patel, Alison B Callahan
Nasal glioma, encephalocele, and ectopic brain are rare congenital anomalies. The terminology applied to these entities has been historically confusing. In many cases, the terms overlap and may be employed synonymously although some authors emphasize their differences. The authors describe herein a child with an inner canthal mass of brain-like tissue that they interpret as nasal glioma, a variety of encephalocele that has lost its connection to the intracranial contents. This research was conducted in conformity with the Helsinki Declaration and Health Insurance Portability and Accountability Act regulations...
May 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29480266/encephalocele-presenting-as-lower-lid-swelling-a-rare-case-report
#10
Vaibhav Kumar Jain, Vikas Kanaujia, Priyadarshini Mishra, Kumudini Sharma
Encephalocele is a rare congenital abnormality characterized by abnormal protrusion of brain and meninges through an opening in the skull. We report an 8-year-old girl who presented with a swelling in the right lower lid for the last 6 years. In her infancy, she had undergone surgery for a very small swelling located in the right nasolacrimal area. On further clinicoradiological evaluation, anterior encephalocele was diagnosed. This case highlights the uncommon site of anterior encephalocele; misdiagnosis and mismanagement of which could result in dreaded complications such as meningitis and cerebrospinal fluid leaking fistula formation...
March 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29479449/meckel-gruber-syndrome-associated-with-anencephaly-an-unusual-reported-case
#11
Houda Nasser Al Yaqoubi, Nishat Fatema
Meckel-Gruber syndrome (MGS) is a rare and lethal ciliopathic disorder, with the incidence ranging between 1 in 13 000-400 000 live births. MGS is characterized by multisystem developmental malformations with the classical features of renal cystic dysplasia, occipital encephalocele and post-axial polydactyly. Except for occipital encephalocele, the CNS abnormalities associated with MGS that are less frequently reported include hydrocephaly, anencephaly or malformation of cerebellum. Our presented case of MGS is associated with anencephaly and other facial abnormalities...
February 2018: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29404236/endoscopic-management-of-developmental-anomalies-of-the-skull-base
#12
REVIEW
Meghan Wilson, Carl Snyderman
Developmental anomalies of the skull base may present in childhood or as an adult. The most common pathologies include dermoid, encephalocele, and glioma. Encephaloceles may present as part of a syndrome. Other entities include infantile hemangiomas and teratoma. Endoscopic techniques provide a less invasive and morbid option for treatment. Proper evaluation and treatment is necessary to prevent complications such as meningitis.
February 2018: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/29379240/imaging-review-of-cerebrospinal-fluid-leaks
#13
Naga V Vemuri, Lakshmi S P Karanam, Venkatesh Manchikanti, Srinivas Dandamudi, Sampath K Puvvada, Vineet K Vemuri
Cerebrospinal fluid (CSF) leak occurs due to a defect in the dura and skull base. Trauma remains the most common cause of CSF leak; however, a significant number of cases are iatrogenic, and result from a complication of functional endoscopic sinus surgery (FESS). Early diagnosis of CSF leak is of paramount importance to prevent life-threatening complications such as brain abscess and meningitis. Imaging plays a crucial role in the detection and characterization of CSF leaks. Three-dimensional, isotropic, high resolution computed tomography (HRCT) accurately detects the site and size of the bony defect...
October 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29377645/iniencephaly
#14
Lewis B Holmes, M Hassan Toufaily, Marie-Noel Westgate
BACKGROUND: Iniencephaly is a severe developmental abnormality of the craniovertebral junction in which the head is retroflexed dramatically. Anatomic studies have identified striking changes in the vertebrae and skull: marked lordosis of the cervical vertebrae, duplicated cervical vertebrae, irregularly fused cervical vertebrae, a widened foramen magnum and a small posterior fossa. The affected infant appears to have no neck, as the skin of the face is continuous with the chest and the skin of the posterior scalp is continuous with the skin of the back...
January 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29360170/a-mendelian-form-of-neural-tube-defect-caused-by-a-de-novo-null-variant-in-smarcc1-in-an-identical-twin
#15
Fuad Al Mutairi, Fatema Alzahrani, Farouq Ababneh, Amna A Kashgari, Fowzan S Alkuraya
Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian forms of NTDs in which single variants are sufficient to cause the disease are extremely rare. We report a monozygotic twin with severe NTDs (occipital encephalocele and myelomeningocele) and a shared de novo, likely truncating, variant in SMARCC1...
February 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29354594/surgical-correction-of-grade-iii-hypertelorism
#16
Ehtesham Ul Haq, Muhammad Umar Qayyum, Muhammad Iran Ilahı, Saadat Ali Janjua, Ayesha Aslam, Rubbab Zahra
Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital...
December 2017: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/29344999/the-newer-classifications-of-the-chiari-malformations-with-clarifications-an-anatomical-review
#17
Fatima Azahraa Haddad, Ibraheem Qaisi, Nagham Joudeh, Hamada Dajani, Fareed Jumah, Amjad Elmashala, Nimer Adeeb, Joshua J Chern, R Shane Tubbs
In 1891, Hans Chiari described a group of congenital hindbrain anomalies, which were eventually named after him. He classified these malformations into three types (Chiari malformations I, II, and III), and four years later added the Chiari IV malformation. However, numerous reports across the literature do not seem to fit Chiari's original descriptions of these malformations, so researchers have been encouraged to propose new classifications to encompass these variants (e.g., Chiari 0, Chiari1.5, and Chiari 3...
April 2018: Clinical Anatomy
https://www.readbyqxmd.com/read/29337005/walker-warburg-syndrome-and-tectocerebellar-dysraphia-a-novel-association-caused-by-a-homozygous-dag1-mutation
#18
Zvi Leibovitz, Hanna Mandel, Tzipora C Falik-Zaccai, Shani Ben Harouch, David Savitzki, Karina Krajden-Haratz, Liat Gindes, Mordechai Tamarkin, Dorit Lev, William B Dobyns, Tally Lerman-Sagie
OBJECTIVES: To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family. METHODS: We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation. RESULTS: The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia)...
May 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29327352/ultrasound-findings-provide-clues-to-investigate-founder-mutations-expressed-as-runs-of-homozygosity-in-chromosomal-microarray-studies
#19
Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner
OBJECTIVES: Chromosomal microarray analysis is effectively applied prenatally to detect copy number changes. Single nucleotide polymorphism (SNP) probes included in the microarray platform can detect regions of excessive homozygosity and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within distinct ethnic groups. Combining these data with prenatal sonography provides accurate focused molecular diagnoses quickly...
January 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29314773/55-year-old-patient-with-intranasal-mass
#20
David W Kennedy, Robert Brody
The patient is a 55 year old female who presented with a right sided intranasal mass in 2014. Surgery was recommended, but the patient cancelled the surgery. She returned three years later with a significant progression of the lesion. What is this lesion and how would you manage it? Five months after resection of the lesion, the patient returns with pulsatile clear mucus visible on nasal endoscopy in the region of the prior mass excision. What does this represent and how should we proceed at this point? Is the patient developing a meningo-encephalocele?...
January 2018: International Forum of Allergy & Rhinology
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