4,601 results match your criteria Encephalocele


Central nervous system pathology in the amniotic rupture sequence.

Authors:
Patrick Shannon

Clin Neuropathol 2020 Jun 26. Epub 2020 Jun 26.

Aims: We delineate and review the central nervous system (CNS) pathology of amniotic rupture sequence (ARS) and its extraneural associations.

Materials And Methods: We review a consecutive 15-year fetal/neonatal autopsy series for cases of ARS to document its morphology and correlates.

Results: We retrieved 15 cases of ARS with complete dissection of the CNS. Read More

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http://dx.doi.org/10.5414/NP301266DOI Listing

Expanding the phenotype of COL4A1-related disorders-Four novel variants.

Brain Dev 2020 Jun 18. Epub 2020 Jun 18.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address:

Objective: COL4A1 variant causes severe central nervous system (CNS) anomalies, including hydranencephaly. However, the pathogenic mechanism underlying the COL4A1 phenotype remains unclear. Here, we report de novo COL4A1 variants in four Japanese patients with typical or rare CNS involvement and exhibiting diverse phenotypes. Read More

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http://dx.doi.org/10.1016/j.braindev.2020.05.009DOI Listing

Association of Fetal MTHFR C677T Polymorphism with Susceptibility to Neural Tube Defects: A Systematic Review and Update Meta-Analysis.

Fetal Pediatr Pathol 2020 Jun 14:1-17. Epub 2020 Jun 14.

Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

MTHFR gene may be a key epigenetic regulation-related factor crucial during embryogenesis. We performed a meta-analysis to determine the association of fetal MTHFR C677T polymorphism with neural tube defects (NTDs). A comprehensive literature search of the PubMed, Embase, and CNKI database was performed up to April 10, 2020. Read More

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http://dx.doi.org/10.1080/15513815.2020.1775734DOI Listing
June 2020
0.398 Impact Factor

Transethmoidal encephalocele endoscopically treated in a newborn: a case report.

Childs Nerv Syst 2020 Jun 9. Epub 2020 Jun 9.

Department of Neurosurgery, Ospedale San Bortolo, Vicenza, Italy.

Congenital encephalocele is a very rare entity, with herniation of normal brain or gliotic tissue through a defect in the skull. The objective is to present a newborn child diagnosed with transethmoidal encephaloceles at birth. She developed respiratory problems, feeding difficulties, and failure to thrive since the first days of life and so required early surgery at her 33th day of life, through an endoscopic nasal approach. Read More

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http://dx.doi.org/10.1007/s00381-020-04669-5DOI Listing

Commentary on: "Cranial nerve V2 and Vidian nerve trauma secondary to lateral pterygoid recess encephalocele repair".

Authors:
William E Bolger

Int Forum Allergy Rhinol 2020 Jun 7. Epub 2020 Jun 7.

North Florida Sinus Center, Jacksonville, FL.

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http://dx.doi.org/10.1002/alr.22572DOI Listing

Middle Cranial Fossa Encephalocele and Cerebrospinal Fluid Leakage: Etiology, Approach, Outcomes.

J Neurol Surg B Skull Base 2020 Jun 28;81(3):268-274. Epub 2019 May 28.

Otology & Neurotology, Michigan Ear Institute, Farmington Hills, Michigan, United States.

 To compare outcome data for surgical approaches in the management of a middle cranial fossa encephalocele or cerebrospinal fluid (CSF) leak and, secondarily, to evaluate the role of obesity and the etiology of the defect.  Retrospective  Quaternary referral center  The study included 73 patients who underwent surgical repair of middle cranial fossa tegmen defects, two of which underwent bilateral repair.  Demographic characteristics, clinical presentation, etiology, imaging, audiometry, surgical findings, method and material for repair, and postoperative course. Read More

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http://dx.doi.org/10.1055/s-0039-1688793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253310PMC

Relative Prevalence and Outcome of Fetal Neural Tube Defect in a Developing Country.

J Obstet Gynaecol India 2020 Jun 18;70(3):195-201. Epub 2020 Apr 18.

Pediatric Surgery, KSCH, New Delhi, India.

Objectives: To find out the relative prevalence of fetal neural tube defect (NTD) and its outcome in terms of survival at birth and beyond 2 years of age.

Methods: A 10-year prospective (2008-2018) observational study was performed, which included all prenatally detected fetal NTD. Two-year follow-up was done in cases of pregnancies resulting in live birth, in terms of their survival, physical morbidity and developmental delay. Read More

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http://dx.doi.org/10.1007/s13224-020-01311-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239972PMC

Trans-pterygomaxillary fossa sphenoidotomy can result in insufficient exposure for lateral pterygoid recess encephalocele repair.

Int Forum Allergy Rhinol 2020 May 29. Epub 2020 May 29.

Sinus & Nasal Institute of Florida, St. Petersburg, FL.

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http://dx.doi.org/10.1002/alr.22570DOI Listing

A Rare Case Report of Encephalocele with Numerous Ependymal Components: A Potential Diagnostic Pitfall.

Int J Surg Pathol 2020 May 28:1066896920925146. Epub 2020 May 28.

Chongqing Hospital of Traditional Chinese Medicine, Jiangbei District, Chongqing, China.

Different cellular constituents of the central nervous system occurring in encephaloceles or neuroglial heterotopias (NGHs) have been reported, but the ependymal morphology has rarely been described in the previous literature, let alone the related histological images. To determine the ependymal morphology in encephaloceles or NGHs, we report a rare case of encephalocele with numerous ependymal components. Radiological examination showed that a 6. Read More

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http://dx.doi.org/10.1177/1066896920925146DOI Listing

Orbital Cyst with Ependymal Differentiation Associated with Microphthalmia.

Fetal Pediatr Pathol 2020 May 25:1-3. Epub 2020 May 25.

Department of Ophthalmology, Mayo Clinic, Rochester, NY, USA.

Orbital cysts associated with microphthalmia are colobomatous lesions that typically present unilaterally and posterior to the globe. A male infant had an orbital cyst associated with microphthalmia located anterior to the globe composed of a neuroglial wall, ependymal-like epithelial lining, with synaptophysin-positive cells resembling the retinal neuronal layer. This orbital cyst may represent a malformation of the eye rather than an encephalocele. Read More

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http://dx.doi.org/10.1080/15513815.2020.1770387DOI Listing

A Rare Case of Sphenoid Encephalocoele Presenting with Fifth Cranial Nerve Involvement.

J Pediatr Neurosci 2020 Jan-Mar;15(1):25-28. Epub 2020 Mar 18.

Department of Neurosurgery, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.

A 14-year-old girl presented with chronic headache, recurrent episodes of vomiting, fever, and two episodes of generalized tonic clonic seizure in the past 2 months. Neuroimaging revealed herniation of the brain along with the dura through a defect in the left greater wing of the sphenoid. Left pterional craniotomy was carried out. Read More

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http://dx.doi.org/10.4103/JPN.JPN_8_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227746PMC

Middle Cranial Fossa Repair of Temporal Bone Spontaneous CSF Leaks With Hydroxyapatite Bone Cement.

Laryngoscope 2020 May 19. Epub 2020 May 19.

Department of Otolaryngology, Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, Indiana, U.S.A.

Objectives: To determine the safety and effectiveness of the middle cranial fossa (MCF) approach in repairing spontaneous cerebrospinal fluid (sCSF) leaks.

Study Design: Retrospective cohort study.

Methods: Patient with sCSF leaks repaired by MCF approach between January 1, 2014 and August 31, 2019 were included. Read More

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http://dx.doi.org/10.1002/lary.28761DOI Listing

Spontaneous transethmoidal meningoencephalocele presenting in the form of recurrent unilateral nasal discharge: discussion of the diagnosis and endoscopic surgical management.

BMJ Case Rep 2020 May 13;13(5). Epub 2020 May 13.

Otorhinolaryngology, Hospital of Sion, Sion, Switzerland.

Meningoencephaloceles of the skull base most commonly occur as a sequela of head trauma or they can more rarely be congenital malformations. Several types of encephalocele exist depending on anatomic features and localisation. Clinical presentation and symptoms can vary. Read More

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http://dx.doi.org/10.1136/bcr-2020-234703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7228147PMC

Endoscopic management of congenital nasal meningoencephaloceles: a short series of 15 paediatric cases.

Childs Nerv Syst 2020 May 8. Epub 2020 May 8.

Department of Neurosurgery, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Purpose: To retrospectively analyse surgical management of clinico-radiologically proven nasal meningoencephalocele amongst children and results of repair with single-layer septo-mucosal flap at a tertiary skull base surgery centre in north India.

Methods: Fifteen children with clinic-radiological nasal meningoencephaloceles with or without CSF rhinorrhoea were included. Radiological scans included CT scans and MRI scans for all cases to delineate soft tissue and bony architecture. Read More

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http://dx.doi.org/10.1007/s00381-020-04649-9DOI Listing

Low incidence of true Sternberg's canal defects among lateral sphenoid sinus encephaloceles.

Acta Neurochir (Wien) 2020 May 6. Epub 2020 May 6.

Departments of Neurosurgery, Weill Cornell Medicine, New York Presbyterian Hospital, 525 East 68th St., Box #99, New York, NY, 10065, USA.

Background: Spontaneous sphenoid sinus cerebrospinal fluid (CSF) encephaloceles have been postulated to arise from a persistent Sternberg's canal. However, recent evidence has questioned this embryological etiology. We examined the anatomic location of a series of lateral sphenoid sinus encephaloceles to determine if they corresponded with the location of Sternberg's canal. Read More

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http://dx.doi.org/10.1007/s00701-020-04329-2DOI Listing
May 2020
1.788 Impact Factor

Glial heterotopia of the middle ear.

Eur Ann Otorhinolaryngol Head Neck Dis 2020 May 28;137(3):207-209. Epub 2020 Apr 28.

Clinique universitaire d'oto-rhino-laryngologie et de chirurgie cervico-faciale, pôle PALCROS, CHU de Grenoble, hôpital Nord, CS 10217, Grenoble cedex 9, France; Pôle médecine, Université Grenoble Alpes, domaine de la Merci, 38700 La Tronche, France; Université Grenoble-Alpes, Brain Tech Lab, Inserm UMR 1205, 38000 Grenoble, France.

Introduction: Glial heterotopia is defined as the presence of normal glial tissue in an abnormal site.

Case Report: We report the case of a 63-year-old man who presented with right hearing loss and tinnitus. ENT examination, computed tomography and magnetic resonance imaging showed signs of chronic otitis media. Read More

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http://dx.doi.org/10.1016/j.anorl.2020.01.017DOI Listing

Multiple Neural Tube Defects: A Case Report.

Am J Case Rep 2020 Apr 30;21:e922312. Epub 2020 Apr 30.

Faculty of Medicine, Jordan University of Science and Technology, Irbid, Jordan.

BACKGROUND Incomplete closure of the neural tube results in congenital anomalies called neural tube defects (NTD). These defects are rarely multiple, and are characterized by loss of central nervous system soft tissue and bony coverings, along with herniation of the involved part of the CNS through the defect. CASE REPORT A newborn female infant was delivered through planned cesarean section due to large occipital encephalocele diagnosed antenatally. Read More

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http://dx.doi.org/10.12659/AJCR.922312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209907PMC

Temporal Bone Encephaloceles: Utility of Preoperative Imaging.

Otolaryngol Head Neck Surg 2020 Apr 28:194599820918566. Epub 2020 Apr 28.

Department of Otolaryngology and Head and Neck Surgery, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, USA.

Objective: To determine the diagnostic efficacy and clinical value of preoperative computed tomography (CT) and magnetic resonance imaging (MRI) among patients with suspected temporal bone encephaloceles (TBE).

Study Design: Retrospective chart review from 2006 to 2018.

Setting: Tertiary referral center. Read More

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http://dx.doi.org/10.1177/0194599820918566DOI Listing

Quadrigeminal arachnoid cyst with perinatal encephalocele.

Childs Nerv Syst 2020 Jul 23;36(7):1393-1397. Epub 2020 Apr 23.

Division of Pediatric Neurosurgery, Ibaraki Children's Hospital, Mito, Ibaraki, Japan.

Introduction: Quadrigeminal arachnoid cyst (QAC) associated with encephalocele is rare; and while some treatments have been developed in recent years, no definite therapeutic approach for QAC has been established. Endoscopic treatment for arachnoid cyst is gaining popularity because it is relatively less invasive to the normal brain tissues.

Case Presentation: The patient, a 4-year-old girl, presented with QAC associated with congenital occipital encephalocele. Read More

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http://dx.doi.org/10.1007/s00381-020-04626-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7300100PMC

Neural tube defects in four Shetland sheepdog puppies: clinical characterisation and computed tomography investigation.

Aust Vet J 2020 Apr 22. Epub 2020 Apr 22.

Faculty of Science, Sydney School of Veterinary Science, The University of Sydney, Sydney, New South Wales, Australia.

Background: Here, we report on the occurrence of neural tube defects (NTDs) in four related Shetland sheepdog puppies. NTDs present as a range of congenital malformations affecting the spine, skull and associated structures. Despite the severity of these malformations and their relatively high prevalence in humans, the aetiology is not well understood. Read More

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http://dx.doi.org/10.1111/avj.12949DOI Listing

Correction of a vertex encephalocele related to amniotic band syndrome.

BMJ Case Rep 2020 03 31;13(3). Epub 2020 Mar 31.

Department of Anesthesiology, Division of Pediatric Anesthesiology, Monroe Carell Junior Children's Hospital at Vanderbilt, Nashville, Tennessee, USA

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http://dx.doi.org/10.1136/bcr-2020-234735DOI Listing

Lower rates of neural tube defects in Israel following folic acid supplementation policy.

Prev Med 2020 Mar 24:106064. Epub 2020 Mar 24.

Tel Aviv Medical Center, Tel Aviv, Israel; Tel Aviv University, Tel Aviv, Israel.

Neural tube defects (NTDs) are common and disabling congenital malformations that remain a public health challenge despite prevention efforts. In 2000, The Israeli Ministry of Health published recommendations on daily folic acid (FA) supplementation for women of reproductive age and established a national NTD registry. This study aims to evaluate the long-term impact of the FA supplementation policy on NTD rates in Israel and the need for further intervention. Read More

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http://dx.doi.org/10.1016/j.ypmed.2020.106064DOI Listing

Ventrolateral Tonsillar Position Defines Novel Chiari 0.5 Classification.

World Neurosurg 2020 Apr;136:444-453

Department of Neurological Surgery, New York-Presbyterian Hospital/Weill Cornell Medical Center, New York, New York, USA. Electronic address:

Background: Cervicomedullary compression in young children has been described in the context of Chiari type 1 malformation, with symptoms associated with the extent of tonsillar herniation below McRae line. Historically, Chiari type 1 malformation has been defined by tonsillar herniation of at least 5 mm. However, in certain populations, including very young children, Chiari symptoms may be present without this finding. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.01.147DOI Listing

Giant Encephalocele in Sokoto, Nigeria: A 5-Year Review of Operated Cases.

World Neurosurg 2020 Mar 19;139:51-56. Epub 2020 Mar 19.

Department of Neurosurgery, Regional Centre for Neurosurgery, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria.

Objective: Encephalocele is a common congenital malformation of the central nervous system; however, giant encephaloceles are rare. The use of folic acid supplementation and termination of pregnancies, which are prenatally diagnosed with encephaloceles and other congenital malformation of the central nervous system, has significantly reduced the occurrence of this type of congenital malformation, especially in developed countries.

Methods: This was a retrospective review over a 5-year period from January 2006 to December 2010 at the Department of Neurosurgery, Regional Centre for Neurosurgery, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.03.061DOI Listing

Three cases of molecularly confirmed Knobloch syndrome.

Ophthalmic Genet 2020 02 17;41(1):83-87. Epub 2020 Mar 17.

Department of Ophthalmology, University Hospital Erasme, Brussels, Belgium.

Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has been described as pathognomonic for this condition. Patients with Knobloch syndrome have also extraocular problems as brain and kidney malformations. Read More

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http://dx.doi.org/10.1080/13816810.2020.1737948DOI Listing
February 2020

Repair of a Temporal Bone Encephalocele With the Surgical Exoscope.

Otol Neurotol 2020 Apr;41(4):561

Department of Otolaryngology Head and Neck Surgery, New York Eye and Ear Infirmary of Mount Sinai.

Objective: We describe our experience using the extracorporeal video microscope, the "exoscope" for repair of a temporal bone encephalocele.

Method: The patient is a 69-year-old male with a right temporal lobe encephalocele herniating through a tegmen defect. He underwent definitive tegmen defect repair and bipolar cauterization of the encephalocele. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002433DOI Listing

Expansion of the phenotype of lateral meningocele syndrome.

Am J Med Genet A 2020 05 6;182(5):1259-1262. Epub 2020 Mar 6.

Department of Translational Medicine, Federico II University, Naples, Italy.

Lateral meningocele syndrome (LMS) is due to specific pathogenic variants in the last exon of NOTCH3 gene. Besides the lateral meningoceles, this condition presents with dysmorphic features, short stature, congenital heart defects, and feeding difficulties. Here, we report a girl with neurosensorial hearing loss, severe gastroesophageal reflux disease, congenital heart defects, multiple renal cysts, kyphosis and left-convex scoliosis, dysmorphic features, and mild developmental delay. Read More

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http://dx.doi.org/10.1002/ajmg.a.61536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217177PMC

Acculturation and selected birth defects among non-Hispanic Blacks in a population-based case-control study.

Birth Defects Res 2020 Apr 5;112(7):535-554. Epub 2020 Mar 5.

Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Background: There are noted birth defects prevalence differences between race/ethnicity groups. For instance, non-Hispanic (NH) Black mothers are more likely to have an infant with encephalocele, although less likely to have an infant with anotia/microtia compared to NH Whites. When stratifying by nativity and years lived within the United States, additional variations become apparent. Read More

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http://dx.doi.org/10.1002/bdr2.1665DOI Listing

Meningo-Encephalocoele.

Authors:
P N Tandon

Neurol India 2020 Jan-Feb;68(1):5-8

Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi-16, India.

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http://dx.doi.org/10.4103/0028-3886.279713DOI Listing

Macular Hole-Related Retinal Detachment in Children with Knobloch Syndrome.

Ophthalmol Retina 2020 May 12;4(5):498-503. Epub 2019 Dec 12.

Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia. Electronic address:

Purpose: To describe the findings and the management of macular hole (MH)-related retinal detachment (RD) in children with Knobloch syndrome.

Design: Retrospective interventional case series.

Participants: Patients with Knobloch syndrome who presented with MH-related RD. Read More

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http://dx.doi.org/10.1016/j.oret.2019.12.004DOI Listing

Surgical outcomes of the endonasal endoscopic approach within a standardized management protocol for repair of spontaneous cerebrospinal fluid rhinorrhea.

J Neurosurg 2020 Feb 28:1-7. Epub 2020 Feb 28.

Departments of1Neurological Surgery and.

Objective: Spontaneous CSF leaks are rare, their diagnosis is often delayed, and they can precipitate meningitis. Craniotomy is the historical "gold standard" repair for these leaks. An endonasal endoscopic approach (EEA) offers potentially less invasiveness and lower surgical morbidity than a traditional craniotomy but must yield the same surgical success. Read More

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http://dx.doi.org/10.3171/2019.12.JNS192891DOI Listing
February 2020

Association between maternal periconceptional alcohol consumption and neural tube defects: Findings from the National Birth Defects Prevention Study, 1997-2011.

Birth Defects Res 2020 Mar 27;112(5):427-439. Epub 2020 Feb 27.

Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa.

Background: Neural tube defects (NTD)s are common birth defects with a multifactorial etiology. Findings from human studies examining environmental (non-inherited) exposures tend to be inconclusive. In particular, although animal studies of alcohol exposure and NTDs support its teratogenic potential, human studies are equivocal. Read More

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http://dx.doi.org/10.1002/bdr2.1656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099604PMC

Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding.

Pediatr Radiol 2020 May 26;50(6):863-868. Epub 2020 Feb 26.

Department of Medical Imaging, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia.

Background: Septopreoptic holoprosencephaly is a mild form of holoprosencephaly in which the midline non-separation is restricted to the septal or preoptic regions. This entity has only been described in a small case series in which associated intracranial abnormalities were limited to the midline structures.

Objective: To describe the radiologic findings of septopreoptic holoprosencephaly and highlight that it can be associated with a variety of intracranial abnormalities, not merely with abnormalities restricted to midline structures as previously reported. Read More

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http://dx.doi.org/10.1007/s00247-020-04634-zDOI Listing

Low risk of clinically important central nervous system dysraphism in a cohort study of 69 patients with isolated aplasia cutis congenita of the head.

Pediatr Dermatol 2020 May 13;37(3):455-460. Epub 2020 Feb 13.

Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin.

Background: Aplasia cutis congenita of the head may be associated with underlying fusion defects in the skin, soft tissues, muscle, or bone. The risk of central nervous system dysraphism in patients with aplasia cutis congenita is not known; however, knowledge of underlying structural defects can inform management considerations.

Methods: This retrospective review investigated the risk of cranial central nervous system dysraphism in children presenting with aplasia cutis congenita of the head, who presented between 1/1/2000 and 6/15/2016. Read More

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http://dx.doi.org/10.1111/pde.14117DOI Listing

Anatomical implications of posterior cephaloceles in the dural venous sinuses.

Childs Nerv Syst 2020 Jan 30. Epub 2020 Jan 30.

Department of Neurosurgery, Federal University of Ceará - UFC, Fortaleza, CE, Brazil.

Objective: To analyze the venous anatomy of the dural sinuses of patients with posterior encephaloceles, in order to formulate anatomical patterns which can ensure safer surgery.

Methods: This is a retrospective study, analyzing eight patients diagnosed with posterior encephalocele throughout 1 year.

Results: Eight patients with cephaloceles were evaluated in our study from January 2017 to January 2018. Read More

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http://dx.doi.org/10.1007/s00381-020-04525-6DOI Listing
January 2020

Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Epilepsy: Systematic Review of Technique, Indications, and Outcomes.

Neurosurgery 2020 04;86(4):E366-E382

Department of Neurological Surgery, Columbia University Medical Center, New York, New York.

Background: For patients with focal drug-resistant epilepsy (DRE), surgical resection of the epileptogenic zone (EZ) may offer seizure freedom and benefits for quality of life. Yet, concerns remain regarding invasiveness, morbidity, and neurocognitive side effects. Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) has emerged as a less invasive option for stereotactic ablation rather than resection of the EZ. Read More

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http://dx.doi.org/10.1093/neuros/nyz556DOI Listing

Prenatal Repair of Myelomeningocele and School-age Functional Outcomes.

Pediatrics 2020 02;145(2)

Seattle Children's Hospital, Seattle, Washington.

Background And Objectives: The Management of Myelomeningocele Study (MOMS), a randomized trial of prenatal versus postnatal repair for myelomeningocele, found that prenatal surgery resulted in reduced hindbrain herniation and need for shunt diversion at 12 months of age and better motor function at 30 months. In this study, we compared adaptive behavior and other outcomes at school age (5.9-10. Read More

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http://dx.doi.org/10.1542/peds.2019-1544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993457PMC
February 2020

Occipital encephalocele in a neonate: a case successfully managed by excision and formation of a reverse visor scalp flap.

BMJ Case Rep 2020 Jan 21;13(1):1-4. Epub 2020 Jan 21.

Department of Plastics and Reconstructive Surgery, King's College Hospital NHS Foundation Trust, London, UK.

Encephaloceles are one form of neural tube defect and are associated with partial absence of skull bone fusion, with an incidence of 1-4 cases for every 10 000 live births. We report the case of a neonate born at term, with an antenatal diagnosis of occipital encephalocele, which was successfully managed with excision and formation of a reverse visor scalp flap on day 2 of life.Surgery was performed in a single stage, involving a multidisciplinary approach between neurosurgery and plastic surgery teams, with wider management involving neonatal intensive care, paediatric, obstetric and anaesthetic teams. Read More

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http://dx.doi.org/10.1136/bcr-2019-232127DOI Listing
January 2020

Prenatal diagnosis of birth defects and termination of pregnancy in Hunan Province, China.

Prenat Diagn 2020 Jan 18. Epub 2020 Jan 18.

NHC Key Laboratory of Birth Defect for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.

Objective: The aim of this study was to analyse the characteristics of the prenatal diagnosis (PD) of birth defects (BDs) and termination of pregnancy (TOP) for fetal anomalies and to suggest perinatal management.

Methods: BD surveillance data were collected from 52 registered hospitals in Hunan between 2015 and 2018. The PD and TOP rates of BDs were calculated to examine the associations between infant sex, maternal age, and region. Read More

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http://dx.doi.org/10.1002/pd.5648DOI Listing
January 2020
2.514 Impact Factor

Prenatal diagnosis of congenital harlequin ichthyosis with fetal MRI.

Indian J Radiol Imaging 2019 Oct-Dec;29(4):448-451. Epub 2019 Dec 31.

Department of Fetal Medicine, Indraprasth Apollo Hospital, Sarita Vihar, New Delhi, India.

Most of the fetal deformities are caused due to genetic abnormalities. Although magnetic resonance imaging (MRI) may be used to accurately diagnose these deformities, it has been reported that gene analysis is a more accurate diagnostic method. Harlequin ichthyosis (HI) or Ichthyosis fetalis (IF) is a rare and extremely severe hereditary skin disorder with autosomal recessive inheritance. Read More

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http://dx.doi.org/10.4103/ijri.IJRI_105_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958889PMC
December 2019

Early Diagnosis and Differences in Progression of Fetal Encephalocele.

J Ultrasound Med 2020 Jul 16;39(7):1435-1440. Epub 2020 Jan 16.

Monash Ultrasound for Women, Melbourne, Victoria, Australia.

In this case series, we present 3 cases of very early prenatal diagnosis of encephalocele that, despite similar appearances at diagnosis, had different disease progressions. Two of the cases were carried to term, whereas 1 resulted in a termination of pregnancy. The diagnoses were made via ultrasound examinations before cell-free DNA testing for chromosomal abnormality screening at 10 weeks' gestation, thereby highlighting the importance of performing a routine ultrasound examination before cell-free DNA testing antenatally. Read More

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http://dx.doi.org/10.1002/jum.15217DOI Listing

Current management of congenital anterior cranial base encephaloceles.

Int J Pediatr Otorhinolaryngol 2020 Apr 8;131:109868. Epub 2020 Jan 8.

Departments of Otolaryngology - Head and Neck Surgery, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address:

Objectives: Congenital encephaloceles provide unique diagnostic and reconstructive challenges for the pediatric rhinologist. The objectives of the current study were to evaluate contemporary treatment strategies for congenital encephaloceles focusing on presentation, surgical technique, and outcomes.

Methods: Multi-institutional retrospective chart review of congenital encephaloceles (2003-2019). Read More

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http://dx.doi.org/10.1016/j.ijporl.2020.109868DOI Listing

Giant Occipital Encephalocele in an Infant: A Surgical Challenge.

J Pediatr Neurosci 2019 Oct-Dec;14(4):218-221. Epub 2019 Dec 3.

Surgery Resident, Department of General Surgery, Kempegowda Institute of Medical Sciences, Bengaluru, Karnataka, India.

Giant occipital encephalocele is an uncommon condition. The sheer size of the lesion poses a challenge to the surgeon and the anesthetist. Here, we present a 4-month-old girl child presenting with a progressively increasing swelling in the occipital region since birth. Read More

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http://dx.doi.org/10.4103/jpn.JPN_115_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935981PMC
December 2019

Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level.

J Community Genet 2020 Jul 3;11(3):303-311. Epub 2020 Jan 3.

National Network of Congenital Anomalies of Argentina (RENAC), National Center of Medical Genetics, National Administration of Health Laboratories and Institutes, National Ministry of Health, Buenos Aires, Argentina.

The goal of our study is to describe the prevalence of congenital anomalies (CA) in hospitals of the City of Buenos Aires, Argentina, according to two proxy variables of the socioeconomic level: health subsector, public (PUB) versus private/social security (PRI), and geographical location, northern (N) versus southern (S). The source of data was the National Network of Congenital Anomalies of Argentina (RENAC) (period 2010-2016). From a total of 228,208 births, 4872 newborns with CA were detected (2. Read More

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http://dx.doi.org/10.1007/s12687-019-00449-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7295923PMC

A Unilateral Nasal Mass With Generalized Seizures: Potential Diagnostic Pitfalls in Giant Pituitary Adenoma.

Allergy Rhinol (Providence) 2019 Jan-Dec;10:2152656719896580. Epub 2019 Dec 17.

Department of Otorhinolaryngology, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia.

Giant pituitary adenomas are clinically nonfunctioning adenomas, and the clinical presentation is usually secondary to compression of the neighboring structures. Visual impairment and visual field defect are the most common preoperative symptoms, followed by headache. Generalized seizures may occur in giant pituitary adenomas when there is involvement of frontal lobes or medial temporal lobes. Read More

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http://dx.doi.org/10.1177/2152656719896580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6920587PMC
December 2019

A Report of Intracranial Meningioma Recurring as Ectopic Orbital Meningioma Associated With Basal Encephalocele.

Ophthalmic Plast Reconstr Surg 2020 Jan/Feb;36(1):e19-e21

Department of Ophthalmology and Visual Neurosciences, University of Minnesota.

The authors describe a rare case of recurrent ectopic meningioma associated with sphenoid encephalocele in the medial anterior orbit of a 52-year-old man with a history of a resected intracranial meningioma. Typical features of ectopic meningioma are reviewed as well as potential etiologies of this very rare recurrence of intracranial meningioma in the orbit. Treatment is typically surgical excision. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001508DOI Listing
January 2020

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Am J Hum Genet 2020 01 26;106(1):121-128. Epub 2019 Dec 26.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, M5G 1X5, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, M5G 1X8, Canada.

In two independent ongoing next-generation sequencing projects for individuals with holoprosencephaly and individuals with disorders of sex development, and through international research collaboration, we identified twelve individuals with de novo loss-of-function (LoF) variants in protein phosphatase 1, regulatory subunit 12a (PPP1R12A), an important developmental gene involved in cell migration, adhesion, and morphogenesis. This gene has not been previously reported in association with human disease, and it has intolerance to LoF as illustrated by a very low observed-to-expected ratio of LoF variants in gnomAD. Of the twelve individuals, midline brain malformations were found in five, urogenital anomalies in nine, and a combination of both phenotypes in two. Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042489PMC
January 2020

Rhythmic Wave Patterns on Ambient Pressure Tympanometry in Patients With Objective Tinnitus-associated Pathologies.

Otol Neurotol 2020 Mar;41(3):e404-e411

Department of Otolaryngology-Head and Neck Surgery, Stanford University School of Medicine, Stanford, California.

Objective: To introduce the concept of ambient pressure tympanometry (APT) and its association with pathologies that may present with objective tinnitus.

Study Design: Retrospective case series.

Setting: Tertiary referral center. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002526DOI Listing

Reduced H3K27me3 leads to abnormal Hox gene expression in neural tube defects.

Epigenetics Chromatin 2019 12 19;12(1):76. Epub 2019 Dec 19.

Department of Biochemistry and Molecular Biology, Shanxi Medical University, Taiyuan, 030001, Shanxi, China.

Background: Neural tube defects (NTDs) are severe, common birth defects that result from failure of normal neural tube closure during early embryogenesis. Accumulating strong evidence indicates that genetic factors contribute to NTDs etiology, among them, HOX genes play a key role in neural tube closure. Although abnormal HOX gene expression can lead to NTDs, the underlying pathological mechanisms have not fully been understood. Read More

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http://dx.doi.org/10.1186/s13072-019-0318-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921514PMC
December 2019