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https://www.readbyqxmd.com/read/29053833/clinical-pathological-and-functional-characterization-of-riboflavin-responsive-neuropathy
#1
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
September 26, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29049147/virtual-reality-model-of-the-three-dimensional-anatomy-of-the-cavernous-sinus-based-on-a-cadaveric-image-and-dissection
#2
Zeng-Hui Qian, Xu Feng, Yang Li, Ke Tang
OBJECTIVE: Studying the three-dimensional (3D) anatomy of the cavernous sinus is essential for treating lesions in this region with skull base surgeries. Cadaver dissection is a conventional method that has insurmountable flaws with regard to understanding spatial anatomy. The authors' research aimed to build an image model of the cavernous sinus region in a virtual reality system to precisely, individually and objectively elucidate the complete and local stereo-anatomy. METHODS: Computed tomography and magnetic resonance imaging scans were performed on 5 adult cadaver heads...
October 18, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29048514/characteristics-and-clinical-outcome-of-lyme-neuroborreliosis-in-a-high-endemic-area-1995-2014-a-retrospective-cohort-study-in-denmark
#3
Fredrikke Christie Knudtzen, Nanna Skaarup Andersen, Thøger Gorm Jensen, Sigurdur Skarphédinsson
Background: Despite a well-described symptomatology, treatment delay and sequelae are common in patients with Lyme neuroborreliosis (LNB). The aim of this study was to contribute to the knowledge about the symptomatology and epidemiology of LNB. Methods: We conducted a retrospective study of all LNB cases verified by a positive Borrelia intrathecal antibody index test performed at the Department of Microbiology, Odense University Hospital, Denmark, from 1995 through 2014...
October 16, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29046977/carotid-angioplasty-and-stenting-and-embolic-protection
#4
REVIEW
Enrico Giordan, Giuseppe Lanzino
PURPOSE OF REVIEW: We review the evidence on the safety and efficacy of carotid angioplasty and stenting (CAS) compared to carotid endarterectomy (CEA) and also summarizes emerging technical issues. RECENT FINDINGS: Randomized trials have demonstrated a progressive decrease of periprocedural strokes after CAS. Overall, in symptomatic patients, CAS is associated with a slightly higher risk of periprocedural strokes when compared to CEA. This is especially true after the age of 70 and immediately after a presenting symptomatic event...
October 18, 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/29044022/-villaret-syndrome-and-lung-adenocarcinoma-an-unusual-association
#5
Juan José Canciani, Juliana A Ospina, Paula Acosta, Javier López, Agustín Dal Verme, Christian Peralta
Villaret syndrome is defined by the affection of the glossopharyngeal (IX), vagal (X), accessory (XI) and hypoglossal (XII) cranial nerves associated with ipsilateral Horner syndrome. It is caused by the compression of these nerves and the neighboring sympathetic plexus fibers at the base of the skull, particularly in the retroparotid space. Even though the invasion of the central nervous system in patients with advanced lung cancer is a frequent and well known occurrence, this particular symptomatic association is extremely rare...
2017: Medicina
https://www.readbyqxmd.com/read/29042067/malignant-external-otitis-the-shifting-treatment-paradigm
#6
Daniel A Carlton, Enrique E Perez, Eric E Smouha
IMPORTANCE: Malignant external otitis (MEO) is an aggressive infection occurring in immunocompromised hosts. Increasing antimicrobial resistance is making the disease more difficult to treat. OBJECTIVE: Determine if there has been a shift in the microbiology and outcomes of MEO. DESIGN: A retrospective case series at a tertiary care institution. SETTING: Inpatient and outpatient tertiary care hospital. PARTICIPANTS: 12 cases of recent MEO were reviewed...
May 25, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/29039156/-vertebrobasilar-artery-dolichoectesia-and-pain-coincidence-or-etiology
#7
Murat Alemdar
Dolichoectesia is described as elongation, widening, and tortuosity of an artery. Most commonly involved vessels are the intracranial vertebral and basilar arteries. Vertebrobasilar artery dolichoectesia is usually asymptomatic. Cerebral ischemia, hemorrhage, or compression findings due to mass effect can be seen in symptomatic patients. Although there are case reports of trigeminal neuralgia due to fifth cranial nerve compression in the literature, to the best of our knowledge, neither hemicranial nor continuous facial pain secondary to vertebrobasilar artery dolichoectesia has been reported previously...
July 2017: Aǧrı: Ağrı (Algoloji) Derneği'nin Yayın Organıdır, the Journal of the Turkish Society of Algology
https://www.readbyqxmd.com/read/29034153/efficacy-of-frontalis-suspension-with-silicone-rods-in-ptosis-patients-with-poor-bell-s-phenomenon
#8
Khyati P Shah, Bipasha Mukherjee
PURPOSE: The purpose of the study was to evaluate the efficacy of silicone rods as frontalis sling for correction of ptosis associated with poor Bell's phenomenon in specific situations. MATERIALS AND METHODS: A retrospective interventional case series of 25 eyes of 19 patients who underwent frontalis suspension surgery with silicone rods for ptosis correction from May 2006 to April 2011, was performed. Inclusion criteria included severe ptosis with poor Bell's phenomenon...
July 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/29032218/the-hypoglossal-nerve-anatomical-study-of-its-entire-course
#9
Giorgio Iaconetta, Domenico Solari, Alessandro Villa, Clotilde Castaldo, Rosa Maria Gerardi, Gianluigi Califano, Stefania Montagnani, Paolo Cappabianca
OBJECT: Only a few anatomic studies concerning the entire course of the hypoglossal nerve (cranial nerve XII) have been reported. The purpose of the present study is to analyze all the relationships of the XII nerve with the surrounding structures from the brainstem to the tongue through a microscopic perspective. A comprehensive anatomically and clinically oriented classification of its different segments is proposed. METHODS: Ten formalin-fixed adult human cadaveric heads (20 sides) were dissected with the aim to explore the entire course of the XII cranial nerve via the lateral suboccipital, the far lateral partial or total transcondilar routes...
October 11, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29026668/fourth-ventricle-neurocysticercosis-rigid-endoscopic-management-description-of-direct-transcerebellar-approach
#10
A Ceja-Espinosa, J A Franco-Jiménez, A Sosa-Nájera, G A Gutiérrez-Aceves, M I Ruiz-Flores
BACKGROUND: Endoscopy has gained a crucial role in high specialty neurosurgery during the last decades. At present, there are well-defined flexible neuroendoscopic procedures to treat ventricular and subarachnoid space pathologies. Neurocysticercosis is recognized as a common cause of neurologic disease in developing countries and the United States. Surgical intervention, especially cerebrospinal fluid diversion, is the key for management of hydrocephalus. In 2002, a consensus suggested that ventricular forms should be treated with endoscopy as the first option...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29026664/supratentorial-extraparenchymal-schwannoma-mimicking-parasagittal-meningioma-a-rare-case-report
#11
Uday S Raswan, Irfan Bhat, Nuzhat Samoon, Sajad H Arif, Masood Laharwal, Sarbjit S Chhiber, Altaf Umar Ramzan
BACKGROUND: Intracranial schwannomas not related to cranial nerves are very rare. Young age, no known history of neurofibromatosis, and seizure as initial symptom have been reported to be associated with intraparenchymal schwannoma. CASE DESCRIPTION: We report a case of supratentorial parasagittal schwannoma in the right frontal region presenting with seizure episode in a 70-year-old man. Computed tomography and magnetic resonance imaging showed a right frontal solid, enhancing extra-axial lesion based on anterior and middle third junction of superior sagittal sinus...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29026617/cerebral-vasculitis-and-intracranial-multiple-aneurysms-in-a-child-with-lyme-neuroborreliosis
#12
Elisa Kortela, Jukka Hytönen, Jussi Numminen, Margit Overmyer, Harri Saxen, Jarmo Oksi
Introduction. Lyme borreliosis is a multisystem tick-borne disease caused by Borrelia burgdorferi. Neurological manifestations are reported in up to 15 % of adult patients with Lyme disease, while the frequency among children is higher. The most common manifestations are painful radiculopathy, facial nerve paresis and lymphocytic meningitis. Epileptic seizures and cerebral vasculitis with stroke or aneurysms are very rare complications. Case presentation. We describe a paediatric patient with sensorineural auditory dysfunction, headache, fatigue and epileptic seizures as sequelae of meningoencephalitis/Lyme neuroborreliosis (LNB) caused by B...
April 2017: JMM Case Reports
https://www.readbyqxmd.com/read/29022157/radiosurgery-in-trochlear-and-abducens-nerve-schwannomas-case-series-and-systematic-review
#13
Iulia Peciu-Florianu, Constantin Tuleasca, Jean-Nicolas Comps, Luis Schiappacasse, Michele Zeverino, Roy Thomas Daniel, Marc Levivier
INTRODUCTION: Schwannomas involving the occulomotor cranial nerves  (CNs; III, IV and VI), can be disabling, due to the associated diplopia and decreased quality of life and are extremely rare. We evaluated the role of Gamma Knife surgery (GKS) in these cases. METHODS: Five patients with CN IV and VI schwannomas (three and two, respectively) were treated in Lausanne University Hospital between 2010 and 2015. Four benefitted from upfront GKS and one from a combined approach (planned subtotal resection followed by GKS), due to a large preoperative tumour volume (size, 3 × 2 × 2...
October 11, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29022088/enhancement-of-multiple-cranial-and-spinal-nerves-in-vanishing-white-matter-expanding-the-differential-diagnosis
#14
Thomas Jose Eluvathingal Muttikkal, Denia Ramirez Montealegre, Julie Ann Matsumoto
Abnormal cranial or spinal nerve contrast enhancement on MRI in cases of suspected pediatric leukodystrophy is recognized as an important clue to the diagnosis of either metachromatic leukodystrophy or globoid cell leukodystrophy (Krabbe disease). We report a case of genetically confirmed childhood vanishing white matter with enhancement of multiple cranial and spinal nerves in addition to the more typical intracranial findings. This case expands the limited differential diagnosis of cranial nerve or spinal nerve enhancement in cases of suspected leukodystrophy and may aid in more efficient work-up and earlier diagnosis of vanishing white matter...
October 12, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29019587/end-to-side-versus-end-to-end-neurorrhaphy-at-the-peroneal-nerve-in-rats
#15
Fausto Viterbo, Ryane Schmidt Brock, Fábio Maciel, Benoit Ayestaray, José Antonio Garbino, Cecília Pessoa Rodrigues
PURPOSE: To evaluate three different kinds of neurorrhaphy of the peroneal nerve. METHODS: Eigthy rats were divided into 5 groups. Control: nerve had no intervention. End-to-end (EE): nerve was cut and elongated with a nerve graft with two end-to-end neurorrhaphies. End-to-side (ES): nerve was cut and sutured to the graft with at the lateral side of the nerve. Side-to-end (SE): the nerve was cut and sutured to the graft with end-to-end neurorrhaphy. Denervated: nerve was cut and both endings were buried into the muscle...
September 2017: Acta Cirúrgica Brasileira
https://www.readbyqxmd.com/read/29018652/anastomotic-aneurysm-formation-after-high-flow-bypass-surgery-a-case-report-with-histopathological-study
#16
Tatsuya Uchida, Masanori Yoshino, Shinji Ito, Takayuki Hara
Bypass surgery is often used in the treatment of large and giant aneurysms. Major complications that often arise during the perioperative period include cranial nerve palsy, ischemic complications, and hyperperfusion. However, there have been a few reports about late onset complications such as anastomotic aneurysms. In particular, anastomotic aneurysm after high flow bypasses has never been reported. A 57-year-old woman who had been suffering from left eye pain was diagnosed with a large aneurysm of the left internal carotid artery (ICA) in the cavernous portion...
October 2017: NMC Case Rep J
https://www.readbyqxmd.com/read/29017981/prolonged-intracisternal-papaverine-toxicity-index-case-description-and-proposed-mechanism-of-action
#17
REVIEW
Xiaofei Zhou, Vilakshan Alambyan, Thomas Ostergard, Jonathan Pace, Maryo Kohen, Sunil Manjila, Ciro Ramos-Estebanez
Intracisternal papaverine (iPPV) is a vasodilator used for prophylaxis of intra-operative vasospasm during aneurysmal clipping. Its post-operative side effects include transient cranial nerve palsies, most commonly mydriasis due to oculomotor nerve involvement with rapid resolution. We critically review the current literature on the adverse effects of iPPV in aneurysmal surgery, with a focus on oculomotor nerve involvement. In addition, this manuscript portrays the index case of prolonged bilateral mydriasis secondary to iPPV irrigation toxicity and its putative underlying mechanism...
October 7, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29016863/a-tubb6-mutation-is-associated-with-autosomal-dominant-non-progressive-congenital-facial-palsy-bilateral-ptosis-and-velopharyngeal-dysfunction
#18
Walid Fazeli, Peter Herkenrath, Barbara Stiller, Antje Neugebauer, Julia Fricke, Ruth Lang-Roth, Gudrun Nürnberg, Michaela Thoenes, Jutta Becker, Janine Altmüller, Alexander E Volk, Christian Kubisch, Raoul Heller
Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. KIF21A and TUBB3 that each plays a pivotal role for microtubule function...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28993357/runx1-runx1t1-positive-acute-myeloid-leukaemia-presenting-as-bilateral-proptosis-and-multiple-cranial-nerve-palsy
#19
Sidharth Totadri, Prateek Bhatia, Sreejesh Sreedharanunni
We describe a unique presentation of acute myeloid leukaemia (AML) with myeloid sarcoma (MS), manifested as proptosis with multiple cranial nerve palsies in a 9-year-old boy. MRI of the brain revealed multiple enhancing lesions and bilateral mastoiditis, in addition to sagittal sinus thrombosis. Peripheral blood smear demonstrated blasts showing Auer rods. Bone marrow examination confirmed the diagnosis of AML. PCR was positive for RUNX1-RUNX1T1. Neurological deficits improved with induction chemotherapy for AML...
October 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28988846/facial-nerve-neuroma-in-the-geniculate-ganglion-extending-into-the-internal-auditory-canal-a-case-report
#20
Mohamed Aboshanif, Eigo Omi, Shinsuke Suzuki, Teruyuki Sato, Koh Koizumi, Kazuo Ishikawa, Masataka Takahashi
Facial nerve schwannoma is a very rare benign tumor representing less than 1% of intrapetrous lesions. Our patient is a forty-one year old female who has suffered from recurrent right facial palsy for the last six years. She was first misdiagnosed as having Bell's palsy and received corticosteroids which resulted in little improvement. She then had facial nerve decompression surgery which resulted in a partial improvement. Since then, she has suffered from recurrent attacks of facial palsy. Two years ago, she came to our hospital seeking further treatment options...
October 5, 2017: Auris, Nasus, Larynx
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