4,406 results match your criteria Encephalocele


An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation.

Childs Nerv Syst 2019 Feb 6. Epub 2019 Feb 6.

Department of Surgery, Division of Neurosurgery, College of Health Sciences, University of Zimbabwe, P.O Box A178, Avondale, Harare, Zimbabwe.

Bobble-head doll syndrome is a rare movement disorder that is usually associated with lesions involving the third ventricle. It is characterised by stereotypical rhythmic up-and-down or side-to-side head movements. The pathophysiology and anatomical basis for this unusual manifestation is still a subject of intense scrutiny. Read More

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http://dx.doi.org/10.1007/s00381-019-04054-xDOI Listing
February 2019

Medicinal signalling cells: they work, so use them.

Authors:
Arnold I Caplan

Nature 2019 02;566(7742):39

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http://dx.doi.org/10.1038/d41586-019-00490-6DOI Listing
February 2019
2 Reads

Short-term results of patients with neural tube defects followed-up in the Konya region, Turkey.

Birth Defects Res 2019 Feb 1. Epub 2019 Feb 1.

Department of Pediatrics, Selçuk University, Selçuklu Medical Faculty, Konya, Turkey.

Background: Additional congenital anomalies have often been found in patients with neural tube defect (NTD). We aimed to find out the clinical features, short term prognosis, treatment approaches, and systemic anomalies of NTD patients in the Konya region.

Method: A total of 186 newborn babies with NTD were retrospectively included in the study and all were assessed in detail for congenital anomalies and clinical features. Read More

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http://dx.doi.org/10.1002/bdr2.1462DOI Listing
February 2019
2 Reads

A Case of Mesial Temporal Lobe Sclerosis Following Temporal Bone Encephalocele Repair for Medically Refractory Seizures.

Cureus 2018 Nov 22;10(11):e3623. Epub 2018 Nov 22.

Otolaryngology, University of Kansas Medical Center, Kansas City, USA.

The aim of this report is to present a case of mesial temporal lobe sclerosis (MTS) causing medically refractory seizures, which was initially disguised as temporal lobe encephalocele secondary to prior otologic surgery. Temporal lobe encephaloceles are characterized by a defect within the middle cranial fossa that results in the abnormal communication of the meninges into the pneumatized skull base. After the temporal lobe encephalocele repair, the patient continued to have seizures and was subsequently diagnosed with mesial temporal lobe sclerosis. Read More

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https://www.cureus.com/articles/15214-a-case-of-mesial-tempo
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http://dx.doi.org/10.7759/cureus.3623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344067PMC
November 2018
4 Reads

Management of median and paramedian craniofacial clefts.

J Plast Reconstr Aesthet Surg 2019 Jan 9. Epub 2019 Jan 9.

Division of Plastic, Reconstructive and Esthetic Surgery, Department of Surgery, Geneva University Hospitals and Faculty of Medicine, 4 Rue Gabrielle Perret-Gentil, 1211 Geneva 14, Switzerland.

Background: Median and paramedian craniofacial clefts are associated with hypertelorism, anterior encephalocele, positional abnormalities of the maxilla, and nasal deformity. Cleft lip and palate, eyelid coloboma, and widow's peak are frequently present.

Methods: The authors collected data from 30 patients (mean age, 5. Read More

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http://dx.doi.org/10.1016/j.bjps.2019.01.001DOI Listing
January 2019
1 Read

Transcranial cerebellar herniation following craniotomy: Case report and literature review.

Neurocirugia (Astur) 2019 Jan 21. Epub 2019 Jan 21.

Department of Neurosurgery, 12 de Octubre University Hospital, Av. De Córdoba s/n, 28041 Madrid, Spain.

To report a case of post-surgical encephalocele through craniotomy burr holes following the resection of a meningioma of the posterior fossa. A 49-year-old female presented in the emergency room with cephalea. The MRI showed a meningioma of the convexity of the posterior fossa. Read More

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http://dx.doi.org/10.1016/j.neucir.2018.12.001DOI Listing
January 2019

The Use of the Exoscope in Lateral Skull Base Surgery: Advantages and Limitations.

Otol Neurotol 2019 Feb;40(2):236-240

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 various applications within the field of lateral skull base surgery.

Study Design: A retrospective case series was performed investigating patient demographics, indications for surgery, procedure type, operative time, approach to the skull base, complications, adequacy of visualization, and surgeon comfortability.

Patients: Six cases were performed with a three dimensional surgical exoscope, obviating the use of a traditional binocular microscope. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002095DOI Listing
February 2019
2 Reads

Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome.

Childs Nerv Syst 2019 Jan 7. Epub 2019 Jan 7.

Division of Neurosurgery, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Al Zahrawi Street, Riyadh, 11211, Saudi Arabia.

There are few reported cases of tectocerebellar dysraphia with occipital encephalocele (TCD-OE) in the literature. This malformation was first described by Padget and Lindburg in 1972 and consists of an occipital encephalocele, a cerebellar midline defect, inverted cerebellum, and deformity of the tectum. Occurrence is believed to be sporadic with a male predominance and a usually poor prognosis. Read More

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http://link.springer.com/10.1007/s00381-019-04048-9
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http://dx.doi.org/10.1007/s00381-019-04048-9DOI Listing
January 2019
4 Reads

Sublabial transsphenoidal microsurgical technique to treat congenital transsphenoidal encephalocele: a technical note.

Neurosurg Rev 2019 Jan 4. Epub 2019 Jan 4.

Department of Neurosurgery and Gamma Knife Radiosurgery, San Raffaele Health Institute, Vita-Salute University, Via Olgettina 60, 20132, Milan, Italy.

Encephalocele is a rare malformation consisting in herniation of cranial contents through a cranial defect. A transsphenoidal location is uncommon, representing 5% of all basal encephaloceles. The surgical treatment of transsphenoidal encephaloceles is challenging. Read More

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http://dx.doi.org/10.1007/s10143-018-01075-zDOI Listing
January 2019

Frontoethmoidal encephalocele presenting in concert with schizencephaly.

Surg Neurol Int 2018 4;9:246. Epub 2018 Dec 4.

Department of Neurosurgery, Aga Khan University Hospital, Karachi, Pakistan.

Background: Schizencephaly is a rare defect which is identified as clefts that are lined with grey matter extending from the ependyma of the cerebral ventricles to the pia mater. An encephalocele occurs due to failure of neural tube closure resulting in a gap through which cerebrospinal fluid and meninges can bulge into a pouch. There have been rare instances when these two defects have presented simultaneously. Read More

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http://surgicalneurologyint.com/surgicalint-articles/frontoe
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http://dx.doi.org/10.4103/sni.sni_242_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293601PMC
December 2018
7 Reads

The effect of folic acid deficiency on FGF pathway via Brachyury regulation in neural tube defects.

FASEB J 2018 Dec 28:fj201801536R. Epub 2018 Dec 28.

Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.

Folate deficiency in early development leads to disturbance in multiple processes, including neurogenesis during which fibroblast growth factor (FGF) pathway is one of the crucial pathways. Whether folic acid (FA) directly affects FGF pathways to influence neurodevelopment and the possible mechanism remains unclear. In this study, we presented evidence that in human FA-insufficient encephalocele, the FGF pathway was interfered. Read More

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https://www.fasebj.org/doi/10.1096/fj.201801536R
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http://dx.doi.org/10.1096/fj.201801536RDOI Listing
December 2018
13 Reads
5.043 Impact Factor

Cerebrospinal Fluid Rhinorrhea due to Transethmoidal Encephalocele Following Occipital Meningioma Resection in an Adult: A Case Report.

J Neurol Surg A Cent Eur Neurosurg 2018 Dec 24. Epub 2018 Dec 24.

Department of Neurosurgery, J. E. Purkyne University, Masaryk Hospital, Usti nad Labem, Czech Republic.

Transethmoidal encephalocele is a rare condition in adult patients. It is usually diagnosed during childhood by cerebrospinal fluid (CSF) rhinorrhea, meningitis, a nasal mass, or seizures. We present a case of an adult woman with CSF rhinorrhea following resection of an occipital meningioma. Read More

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http://dx.doi.org/10.1055/s-0038-1676621DOI Listing
December 2018
1 Read

Beals syndrome with middle and inner ear dysplasia and encephalocele: A case report and review of imaging findings.

Int J Pediatr Otorhinolaryngol 2019 Feb 10;117:26-29. Epub 2018 Nov 10.

Department of Radiology, New York Presbyterian Hospital, Weill Cornell Medicine, 525 East 68th Street, New York, NY, 10065, USA.

A 10-year-old male with history of Beals syndrome presented with hearing loss and was found to have middle and inner ear dysplasia and left temporal encephalocele on imaging. Beals syndrome is a rare autosomal dominant connective tissue disorder caused by a mutation in the fibrillin-2 gene. Skeletal manifestations of Beals have been reported, including anomalies of the long bones, calvarium, and spine. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01655876183057
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http://dx.doi.org/10.1016/j.ijporl.2018.11.009DOI Listing
February 2019
7 Reads

Bilateral orbital glial heterotopia: A rare case report.

Oman J Ophthalmol 2018 Sep-Dec;11(3):288-290

Department of Histopathology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan.

Glial heterotopia is a rare congenital mass that often presents as a unilateral mass lesion in or around the nose. Complete surgical excision is the treatment of choice. However, before any surgical intervention for suspected glial heterotopia, distinction should be made both clinically and radiologically from the pathologically related encephalocele to prevent the risk of cerebrospinal fluid leak and meningitis. Read More

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http://dx.doi.org/10.4103/ojo.OJO_214_2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219331PMC
December 2018
1 Read

Maternal periconceptional consumption of sprouted potato and risks of neural tube defects and orofacial clefts.

Nutr J 2018 11 28;17(1):112. Epub 2018 Nov 28.

Peking University Institute of Reproductive and Child Health, National Health Commission Key Laboratory of Reproductive Health, Beijing, 100191, China.

Background: The association between maternal consumption of sprouted potato during periconceptional period on the development of neural tube defects (NTDs) or orofacial clefts (OFCs) remains unclear. We aimed to examine the association between maternal consumption of sprouted potatoes during periconceptional period and risks of NTDs or OFCs.

Methods: Subjects included 622 NTD cases, 135 OFC cases and 858 nonmalformed controls, were recruited from a case-control study in Shanxi Province of northern China between 2002 and 2007. Read More

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http://dx.doi.org/10.1186/s12937-018-0420-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262956PMC
November 2018
2 Reads

Sequential Neuroimaging of the Fetus and Newborn With In Utero Zika Virus Exposure.

JAMA Pediatr 2018 Nov 26. Epub 2018 Nov 26.

Division of Fetal and Transitional Medicine, Children's National Health System, Washington, DC.

Importance: The evolution of fetal brain injury by Zika virus (ZIKV) infection is not well described.

Objectives: To perform longitudinal neuroimaging of fetuses and infants exposed to in utero maternal ZIKV infection using concomitant magnetic resonance imaging (MRI) and ultrasonography (US), as well as to determine the duration of viremia in pregnant women with ZIKV infection and whether the duration of viremia correlated with fetal and/or infant brain abnormalities.

Design, Setting, And Participants: A cohort of 82 pregnant women with clinical criteria for probable ZIKV infection in Barranquilla, Colombia, and Washington, DC, were enrolled from June 15, 2016, through June 27, 2017, with Colombian women identified by community recruitment and physician referral and travel-related cases of American women recruited from a Congenital Zika Program. Read More

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http://archpedi.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamapediatrics.2018.4138DOI Listing
November 2018
8 Reads

Persisting Embryonal Infundibular Recess Masquerading as a Nasal Mass.

Asian J Neurosurg 2018 Oct-Dec;13(4):1219-1221

Department of Neurosurgery, Aster Medcity, Kochi, Kerala, India.

Persisting embryonal infundibular recess (PEIR) is a rare anomaly of the development of the posterior pituitary wherein there is a defect in the third ventricular floor. Earlier reports have found PEIR descending only up to the sella. However, this is the first case of PEIR presenting as a pulsatile nasal mass. Read More

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http://dx.doi.org/10.4103/ajns.AJNS_92_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208221PMC
November 2018
15 Reads

Moulded Osteomyofascial Pedicled Split (MOPS) Craniotomy Flap in Reconstruction of Anterior Cranial Fossa Defects: Pilot Study of a Novel Technique.

Asian J Neurosurg 2018 Oct-Dec;13(4):1011-1017

Department of Neurosurgery, Government Medical College, Kottayam, Kerala, India.

Introduction: Anterior cranial fossa (ACF) defects still remains a reconstructive challenge to neurosurgeons due to the difficult location, inaccessibility, and unfavorable vascular anatomy. Usual reconstructive methods reported complications such as recurrent cerebrospinal fluid leak due to bone resorption and tissue breakdown. This is mainly due to the avascularity of the bone graft and inability to provide bony structural support for the skull base. Read More

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http://dx.doi.org/10.4103/ajns.AJNS_23_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208263PMC
November 2018
11 Reads

Sex differences in the prevalence of neural tube defects and preventive effects of folic acid (FA) supplementation among five counties in northern China: results from a population-based birth defect surveillance programme.

BMJ Open 2018 Nov 8;8(11):e022565. Epub 2018 Nov 8.

Institute of Reproductive and Child Health, Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China, Peking University, Beijing, China.

Objectives: Sex differences in prevalence of neural tube defects (NTDs) have previously been recognised; however, the different susceptibility of men and women have not been examined in relation to the effects of folic acid (FA) supplementation. We hypothesised that FA may have a disproportionate effect that alters the sex-specific prevalence of NTDs.

Setting: Data from two time points, before (2003-2004) and after (2011-2016) the start of the supplementation programme, were obtained from a population-based birth defect surveillance programme among five counties in northern China. Read More

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http://dx.doi.org/10.1136/bmjopen-2018-022565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231556PMC
November 2018
7 Reads
2.063 Impact Factor

Maternal genitourinary infections and risk of birth defects in the National Birth Defects Prevention Study.

Birth Defects Res 2018 Nov 6;110(19):1443-1454. Epub 2018 Nov 6.

Congenital Malformations Registry, New York State Department of Health, Albany, New York.

Background: Genitourinary infections (GUIs) are common among sexually active women. Yet, little is known about the risk of birth defects associated with GUIs.

Methods: Using data from the National Birth Defects Prevention Study, a multisite, population-based, case-control study, we assessed self-reported maternal GUIs in the month before through the third month of pregnancy (periconception) from 29,316 birth defect cases and 11,545 unaffected controls. Read More

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http://doi.wiley.com/10.1002/bdr2.1409
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http://dx.doi.org/10.1002/bdr2.1409DOI Listing
November 2018
8 Reads

Identification and Management of Cranial Anomalies in Perinatology.

Clin Perinatol 2018 12 18;45(4):699-715. Epub 2018 Sep 18.

Department of Plastic Surgery, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA; Department of Otolaryngology-Head and Neck Surgery, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA. Electronic address:

Neonatal skull and head shape anomalies are rare. The most common cranial malformations encountered include craniosynostosis, deformational plagiocephaly, cutis aplasia, and encephalocele. Improved prenatal imaging can diagnose morphologic changes as early as the second trimester. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00955108183139
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http://dx.doi.org/10.1016/j.clp.2018.07.008DOI Listing
December 2018
13 Reads

An Audit of Neural Tube Defects in the Republic Of Ireland for 2012-2015.

Ir Med J 2018 03 14;111(3):712. Epub 2018 Mar 14.

UCD Centre for Human Reproduction, Coombe Women and Infants University Hospital, Cork Street, Dublin 8.

Neural tube defects (NTD) are potentially preventable in two-thirds of cases by periconceptional maternal Folic Acid (FA) supplementation. A national audit for the years 2009-11 showed no decline in NTD rates over twenty years. The aim of this national audit was to determine trends/rates and inform revision of national FA supplementation and food fortification strategies. Read More

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March 2018
2 Reads

A dural arteriovenous fistula associated with an encephalocele presenting as otitis media with effusion.

J Laryngol Otol 2018 Nov 16;132(11):1032-1035. Epub 2018 Oct 16.

Department of Otolaryngology,London,UK.

Objective: This case report illustrates an unusual case of a dural arteriovenous fistula and an associated encephalocele presenting as otitis media with effusion.Case reportA 53-year-old man presented with right-sided hearing loss and aural fullness of 2 years' duration. Examination revealed ipsilateral post-auricular pulsatile tenderness. Read More

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http://dx.doi.org/10.1017/S0022215118001822DOI Listing
November 2018

Isolated Orbital Roof Fracture: Can It Be Catastrophic?

Asian J Neurosurg 2018 Jul-Sep;13(3):935-937

Department of Neurosurgery, Kerala Institute of Medical Science, Trivandrum, Kerala, India.

Orbital encephalocele is a rare catastrophic complication of orbital roof fractures. Early diagnosis of this posttraumatic orbital encephalocele is very crucial because this condition if untreated leads to rapid loss of vision. Whenever displaced orbital roof fracture is identified in a head injury patient, an orbital encephalocele should be suspected. Read More

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http://dx.doi.org/10.4103/ajns.AJNS_101_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159092PMC
October 2018
10 Reads

Trans-Sellar Trans-Sphenoidal Herniation of Third Ventricle with Cleft Palate and Microophthalmia: Report of a Case and Review of Literature.

Asian J Neurosurg 2018 Jul-Sep;13(3):782-785

Department of Neurosurgery, SGPGIMS, Lucknow, Uttar Pradesh, India.

Trans -sellar trans-sphenoidal encephalocele is an extremely rare entity. We present the case of an 18-month old boy who presented with a trans-sellar, trans-sphenoidal encephalocele associated with cleft lip, cleft palate and microphthalmia. This patient was treated successfully by a trans-cranial extra-dural route. Read More

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http://dx.doi.org/10.4103/1793-5482.238003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159010PMC
October 2018
1 Read

Chiari malformation clusters describe differing presence of concurrent anomalies based on Chiari type.

J Clin Neurosci 2018 Dec 29;58:165-171. Epub 2018 Sep 29.

Department of Orthopaedic and Neurologic Surgery, NYU Langone Orthopedic Hospital, NYU Langone Medical Center, New York, NY, USA. Electronic address:

Chiari malformations are structural defects in the posterior fossa where the cerebellum displaces caudally into the foramen magnum and upper spinal canal. These malformations are classified by severity as Types 1-4, each presenting with different associated and/or concurrent conditions and anomalies. The aim of this study was to utilize a nationwide database to study patients with Chiari malformations including their concurrent diagnoses and associated anomalies. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09675868183054
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http://dx.doi.org/10.1016/j.jocn.2018.06.045DOI Listing
December 2018
3 Reads

Neuroradiological findings in patients with "non-lesional" focal epilepsy revealed by research protocol.

Clin Radiol 2019 Jan 28;74(1):78.e1-78.e11. Epub 2018 Sep 28.

Department of Molecular and Clinical Pharmacology, Institute of Translational Medicine, University of Liverpool, UK; The Walton Centre NHS Foundation Trust, Liverpool, UK.

Aim: To evaluate whether a dedicated epilepsy research protocol with expert image re-evaluation can increase identification of patients with lesions and to attempt to ascertain the potential reasons why lesions were not identified previously on earlier clinical magnetic resonance imaging (MRI).

Materials And Methods: Forty-three patients (26 female) with focal refractory epilepsy who had failed at least two trials of anti-epileptic drug treatments were studied. Patients were recruited prospectively into the study if previous clinical MRI was deemed to be "non-lesional" by the clinicians involved in the initial assessment. Read More

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http://dx.doi.org/10.1016/j.crad.2018.08.013DOI Listing
January 2019

Giant Occipital Encephalocele with Chiari Malformation Type 3.

J Neurosci Rural Pract 2018 Oct-Dec;9(4):619-621

Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, Kelantan, Malaysia.

Encephaloceles are rare embryological mesenchymal developmental anomalies resulting from inappropriate ossification in the skull through which herniate the intracranial contents of the sac. Occipital encephaloceles are described as giant when they are larger than the head from which they arise, and they pose a great surgical challenge. Herein, we present a case of a giant occipital encephalocele in a neonate with Chiari malformation Type 3 to highlight the problems encountered in its management and the outcome of the surgery. Read More

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http://www.ruralneuropractice.com/text.asp?2018/9/4/619/2398
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http://dx.doi.org/10.4103/jnrp.jnrp_103_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126286PMC
October 2018
5 Reads

A Brief Review of Giant Occipital Encephalocele.

J Neurosci Rural Pract 2018 Oct-Dec;9(4):455-456

Department of Pediatric Surgery, Gandhi Medical College and Associated Kamla Nehru and Hamidia Hospitals, Bhopal, Madhya Pradesh, India.

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http://dx.doi.org/10.4103/jnrp.jnrp_189_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126288PMC
October 2018

Brain Herniation Through the Cribriform Plate: Review and Comparison to Encephaloceles in the Same Region.

Cureus 2018 Jul 10;10(7):e2961. Epub 2018 Jul 10.

Neurosurgery, Seattle Science Foundation, Seattle, USA.

Herniations of the brain and/or meninges through an opening of the skull often occur through the foramen magnum, e.g., Chiari malformations and encephaloceles. Read More

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http://dx.doi.org/10.7759/cureus.2961DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132595PMC
July 2018
1 Read

Transmastoid Repair of Spontaneous Cerebrospinal Fluid Leaks.

J Neurol Surg B Skull Base 2018 Oct 11;79(5):451-457. Epub 2018 Jan 11.

Department of Otolaryngology Head and Neck Surgery, Mount Sinai Hospital, New York, New York, United States.

 Determine the efficacy of using a purely transmastoid approach for the repair of spontaneous cerebrospinal fluid (CSF) leaks and further elucidate the relationship of elevated body mass index (BMI) and skull base thickness in our patient population.  We conducted a retrospective chart review of patients treated for spontaneous temporal bone CSF leaks at our tertiary care institution from the years 2006 to 2015. Cases were categorized as primary or secondary. Read More

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http://dx.doi.org/10.1055/s-0037-1617439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133665PMC
October 2018
2 Reads

Emergent Single Burr Hole Evacuation for Traumatic Acute Subdural Hematoma with Cerebral Herniation: A Retrospective Cohort Comparison Analysis.

World Neurosurg 2018 Dec 7;120:e1024-e1030. Epub 2018 Sep 7.

Department of Neurosurgery, FeiXian People Hospital, FeiXian, China. Electronic address:

Objective: To investigate the clinical benefits of emergent single burr hole evacuation technology in traumatic acute subdural hematoma (ASDH) with cerebral herniation cases.

Methods: We conducted a review comparing patients with ASDH with cerebral herniation who underwent single burr hole evacuation followed by decompressive craniectomy and intracranial hematoma removal surgery (n = 45, group A) and those who underwent decompressive craniectomy and intracranial hematoma removal surgery after rapid infusion of mannitol 250 mL (n = 53, group B) in our institution. Pre- and postoperative assessments included Glasgow Coma Scale (GCS), Glasgow Outcome Scale (GOS), activities of daily living (ADLs), and common complication incidences. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.08.219DOI Listing
December 2018
23 Reads

An Unusual Presentation of Langerhans Cell Histiocytosis.

J Coll Physicians Surg Pak 2018 Sep;28(9):S172-S173

Department of Histopathology, Shifa International Hospital, Islamabad.

Langerhans cell histiocytosis (LCH) is a rare entity formerly known as eosinophilic granuloma. It is characterised by clonal multiplication of langerhans cells (LCs) that can occur anywhere in the body, especially in connective tissue of skin, lymph nodes and bone. Although rare, the disorder frequently affects children. Read More

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https://www.jcpsp.pk/data/view.php?id=356&type=pdf&j
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http://dx.doi.org/10.29271/jcpsp.2018.09.S172DOI Listing
September 2018
14 Reads

Frontoethmoidal encephalocele in a cat.

JFMS Open Rep 2018 Jan-Jun;4(1):2055116918783147. Epub 2018 Jun 28.

Animal Referral Hospital, Homebush, NSW, Australia.

Case Summary: An 11-month-old female neutered domestic shorthair cat presented for further investigation of a 1 month history of generalised tonic-clonic seizures. Physical examination revealed microphthalmia of the left eye and right-sided hemiparesis. MRI of the brain and cranial neck was performed using a 1. Read More

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http://dx.doi.org/10.1177/2055116918783147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109858PMC
June 2018
33 Reads

Unusual, Acute, and Delayed Traumatic Torcular Herophili Epidural Hematoma Causing Malignant Encephalocele During Surgery: A Case Report.

Am J Case Rep 2018 Aug 29;19:1030-1034. Epub 2018 Aug 29.

Department of Neurosurgery, Huishan People's Hospital of Wuxi, Wuxi, Jiangsu, China (mainland).

BACKGROUND Traumatic torcular herophili epidural hematoma is a rare and specific type of traumatic brain injury that is technically difficult to treat and, more critically, can lead to malignant encephalocele during the operation. CASE REPORT A 40-year-old man presented to our hospital 2 h after a motor vehicle crash. Emergency cranial CT showed a frontotemporal subdural hematoma; 3 h after the patient was admitted, the GCS score decreased to 8 and cranial CT re-examination showed that the frontotemporal subdural hematoma was significantly larger than before. Read More

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https://www.amjcaserep.com/abstract/index/idArt/910030
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http://dx.doi.org/10.12659/AJCR.910030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6124356PMC
August 2018
12 Reads

A case of "familial atretic encephalocele".

Ultrasound Obstet Gynecol 2018 Aug 27. Epub 2018 Aug 27.

The University of Hong Kong - Obstetrics and Gynaecology, Hong Kong.

This is the first pregnancy of a 22 years old healthy women from non-consanguineous marriage. A small 6 to 7mm occipital cystic mass was noted on anomaly scan at 17wk (figure 1). Amniocentesis was performed at 20 weeks gestation for conventional cytogenetics revealed normal karyotype 46,XX. Read More

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http://doi.wiley.com/10.1002/uog.20109
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http://dx.doi.org/10.1002/uog.20109DOI Listing
August 2018
23 Reads

A large posterior encephalocele associated with severe ventriculomegaly, cerebellar atrophy and transposition of the great arteries.

J Clin Ultrasound 2018 Nov 14;46(9):588-590. Epub 2018 Aug 14.

Department of Obstetrics and Gynecology, Trakya University Faculty of Medicine, Edirne, Turkey.

Posterior encephalocele is a neural tube defect, which is a sac-like protrusion of the neural tissue and cerebrospinal fluid through a defect in the occipital bone. This embryonic anomaly may coexist with cortical dysplasia, agenesis of the corpus callosum, hydrocephalus, microcephaly, craniofacial abnormalities, ventricular and atrial septal defect. We report a case of a large posterior encephalocele in a fetus accompanied by unexpected major abnormalities including transposition of the great arteries, severe ventriculomegaly and cerebellar atrophy. Read More

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http://doi.wiley.com/10.1002/jcu.22625
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http://dx.doi.org/10.1002/jcu.22625DOI Listing
November 2018
13 Reads

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.

Eur J Hum Genet 2018 Dec 10;26(12):1797-1809. Epub 2018 Aug 10.

Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.

Whole exome sequencing (WES) is utilized in diagnostic odyssey cases to identify the underlying genetic cause associated with complex phenotypes. Recent publications suggest that WES reveals the genetic cause in ~25% of these cases and is most successful when applied to children with neurological disease. The residual 75% of cases remain genetically elusive until more information becomes available in the literature or functional studies are pursued. Read More

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http://dx.doi.org/10.1038/s41431-018-0222-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244354PMC
December 2018
2 Reads

Endoscopic trans-nasal repair of basal encephalocele associated with morning glory syndrome.

Br J Neurosurg 2018 Aug 10:1-3. Epub 2018 Aug 10.

c Division of Neurosurgery, Department of Surgery, College of Medicine , King Saud University , Riyadh , Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1080/02688697.2018.1494264DOI Listing
August 2018
16 Reads

Double Encephalocele: An Unusual Presentation.

J Pediatr Neurosci 2018 Apr-Jun;13(2):264-266

Department of Pediatric Surgery, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

The occurrence of multiple neural tube defects in a single patient is rare; the cases reported in the past are mostly of thoracic and lumbosacral region. Double occipital encephaloceles are rare; only four cases have been reported till date. Here we report a case of double encephalocele-one in the vertex and the other in the occiput, and a literature study on similar reports. Read More

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http://www.pediatricneurosciences.com/text.asp?2018/13/2/264
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http://dx.doi.org/10.4103/jpn.JPN_22_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057211PMC
August 2018
13 Reads

Ear and Temporal Bone Pathology: Neural, Sclerosing and Myofibroblastic Lesions.

Head Neck Pathol 2018 Sep 1;12(3):392-406. Epub 2018 Aug 1.

Division of Anatomical Pathology, Department of Pathology and Laboratory Medicine, The Ottawa Hospital/University of Ottawa, 501 Smyth Road, Ottawa, ON, K1H 8L6, Canada.

Neural, sclerosing, and myofibroblastic lesions of the ear and temporal bone present diagnostic challenges for both clinicians and pathologists due to significant overlap in their clinical presentations, histologic appearances, and immunohistochemical profiles. While some of these lesions, such as schwannomas, are relatively common, others are rendered even more difficult because they are encountered very rarely in routine surgical pathology practice. This review is intended to provide an update on the pathology of some of the most commonly encountered primary diagnostic entities for the ear and temporal bone, and includes the following neural lesions: schwannoma, meningioma, and encephalocele/meningocele. Read More

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http://dx.doi.org/10.1007/s12105-018-0891-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081283PMC
September 2018
3 Reads

Giant Occipitocervical Encephalocele.

J Neurosci Rural Pract 2018 Jul-Sep;9(3):414-416

Department of Anaesthesiology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Encephaloceles are cranial defects in which sac contains herniating brain, which is often gliotic. Congenitally, this defect may extend into posterior elements of cervical vertebrae and leads to occipitocervical encephalocele. When the size of this sac is larger than head size, they are termed as giant. Read More

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http://www.ruralneuropractice.com/text.asp?2018/9/3/414/2360
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http://dx.doi.org/10.4103/jnrp.jnrp_24_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050767PMC
August 2018
18 Reads

Synchronous Chiari III Malformation and Polydactyly.

World Neurosurg 2018 Oct 27;118:301-303. Epub 2018 Jul 27.

National Neuroscience Institute, Department of Neurosurgery, National Neuroscience Institute, Singapore. Electronic address:

Background: Chiari III malformation is an extremely rare congenital anomaly. At present, its primary and associated pathognomonic factors remain poorly understood. The authors report a case of a male neonate born with an occipital encephalocoele with herniation of posterior fossa contents associated with bilateral postaxial polydactyly. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.07.155DOI Listing
October 2018
15 Reads

Morning glory syndrome with Moyamoya disease: A rare association with role of imaging.

Indian J Radiol Imaging 2018 Apr-Jun;28(2):165-168

Department of Radio-Diagnosis, Kempegowda Institute of Medical Sciences, Bengaluru, Karnataka, India.

Morning glory disc anomaly (MGDA) is a congenital optic nerve anomaly characterized by a funnel-shaped excavation of the posterior globe that incorporates the optic disc. Most cases are isolated and not associated with systemic anomalies. Systemic anomalies include midline cranial facial defects, hypertelorism, agenesis of the corpus callosum, cleft lip and palate, basal encephalocele, congenital forebrain abnormalities, and renal anomalies. Read More

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http://dx.doi.org/10.4103/ijri.IJRI_219_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6038211PMC
July 2018
1 Read

Early Detection of Structural Anomalies in a Primary Care Setting in the Netherlands.

Fetal Diagn Ther 2018 Jul 25:1-8. Epub 2018 Jul 25.

Fetal Medicine Unit, Department of Obstetrics and Gynecology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

Objective: This study assessed the percentage and type of congenital anomalies diagnosed at first-trimester ultrasound (US) scan in a primary care setting without following a standardized protocol for fetal anatomical assessment.

Materials And Methods: US scans performed between 11+0 and 13+6 weeks of gestation in pregnancies with estimated date of delivery between January 1, 2012 and January 1, 2016 were searched. Data were supplemented with results of 20-week scans and pregnancy outcome. Read More

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http://dx.doi.org/10.1159/000490723DOI Listing
July 2018
4 Reads

Craniopharyngeal canal, morning glory disc anomaly and hypopituitarism: what do they have in common?

Oxf Med Case Reports 2018 Jun 11;2018(6):omy018. Epub 2018 Jun 11.

Le Bonheur Children's Hospital, Memphis, TN, USA.

A 14-year-old girl with a history of mid-line defects, basal encephalocele and morning glory disc anomaly presented with untreated growth hormone deficiency, pubertal delay and hypothyroidism. She was found to have a large craniopharyngeal canal based on MRI scan. Craniopharyngeal canal is an uncommon condition that has not been well described in the pediatric population. Read More

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http://dx.doi.org/10.1093/omcr/omy018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007484PMC
June 2018
1 Read

Management of the Frontoethmoidal Encephalomeningocele.

Authors:
Priya Jeyaraj

Ann Maxillofac Surg 2018 Jan-Jun;8(1):56-60

Command Military Dental Centre (Northern Command), Udhampur, Jammu and Kashmir, India.

Introduction: The Frontoethmoidal encephalomeningocele (FEEM) is a congenital neural tube anomaly, with herniation of intracranial material such as the brain and leptomeninges through a defect of the dura and anterior skull base at the junction of the frontal and ethmoidal bones. It may result not only in neural defects, sensorimotor deficits, neurological morbidities, visual impairment, impaired nasal function, and a potential risk of intracranial infection, but also in significant craniofacial disfigurement with complex deformities in the frontal, orbital, and nasal regions.

Materials And Method: The standard two-staged surgical protocol comprises of the first stage performed by a neurosurgeon, which aims at correcting the neural defect by a formal craniotomy; then the second stage performed by a craniomaxillofacial or plastic and reconstructive surgeon, to correct craniofacial hard and soft tissue deformities. Read More

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http://dx.doi.org/10.4103/ams.ams_11_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018266PMC
July 2018
7 Reads

Alopecia secondary to repaired occipital encephalocele - role of tissue expander in hair restoration.

Med J Malaysia 2018 Jun;73(3):172-174

Universiti Sains Malaysia, School of Medical Sciences, Reconstructive Sciences Unit, Health Campus, Kubang Kerian, Malaysia.

Partial scalp alopecia is a common problem that can lead to severe social and psychological problems. Tissue expansion, although an old concept, provides a surgical alternative to manage areas of alopecia. We describe a case of alopecia secondary to repaired occipital encephalocele that was successfully treated using tissue expansion technique. Read More

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June 2018
9 Reads

A Case of An Unusual Bell's Palsy Mimic.

Semin Pediatr Neurol 2018 07 13;26:77-79. Epub 2017 Apr 13.

Department of Child Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. Electronic address:

We discuss the case of a 5-year-old boy who presented with an isolated left-sided cranial nerve 7 palsy that was initially magnetic resonance imaging negative. Owing to continued symptoms, repeat magnetic resonance imaging was performed and showed a temporal bone encephalocele. A review of the differential diagnosis of cranial nerve 7 palsy, warning signs signaling the need for additional workup, and a discussion of temporal lobe encephaloceles is provided in this case report. Read More

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http://dx.doi.org/10.1016/j.spen.2017.03.011DOI Listing
July 2018
4 Reads

Dural arteriovenous fistula presenting with acute subdural haematoma showing impending cerebral herniation.

BMJ Case Rep 2018 Jun 27;2018. Epub 2018 Jun 27.

Department of Comprehensive Strokology, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.

A dural arteriovenous fistula (DAVF) presenting with acute subdural haematoma (ASDH), which were not related to head injury, is rare. A 61-year-old woman was transported by ambulance because of deterioration of consciousness. On admission, she was comatose with anisocoria. Read More

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http://dx.doi.org/10.1136/bcr-2017-223177DOI Listing
June 2018
3 Reads