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Mikako Enokizono, Noriko Aida, Tetsu Niwa, Hitoshi Osaka, Takuya Naruto, Kenji Kurosawa, Chihiro Ohba, Toshifumi Suzuki, Hirotomo Saitsu, Tomohide Goto, Naomichi Matsumoto
PURPOSE: Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTS patients with C5orf42 mutations. MATERIALS AND METHODS: Neuroimaging findings in five JBTS patients with C5orf42 mutations were retrospectively assessed with regard to the infratentorial and supratentorial structures on T1-magnetization prepared rapid gradient echo (MPRAGE), T2-weighted images, and color-coded fractional anisotropy (FA) maps; the findings were compared to those in four JBTS patients with mutations in other genes (including three with AHI1 and one with TMEM67 mutations)...
May 15, 2017: Journal of the Neurological Sciences
Anja Wüest, Daniel Surbek, Roland Wiest, Christian Weisstanner, Harald Bonel, Maja Steinlin, Luigi Raio, Boris Tutschek
INTRODUCTION: The primary aim of this study was to ascertain the prevalence of the individual conditions and of associated anomalies in fetuses with the prenatal diagnosis of enlarged posterior fossa (PF) and to explore the diagnostic accuracy of ultrasound in these anomalies. The secondary aim was to evaluate the postnatal outcome of children affected by PF anomalies. MATERIAL AND METHODS: All fetuses with enlarged PF detected by prenatal sonography at a referral center from 2001 to 2015 were analyzed retrospectively...
March 14, 2017: Acta Obstetricia et Gynecologica Scandinavica
Waleed Brinjikji, Kelly D Flemming, Giuseppe Lanzino
The authors report a case of a developmentally normal child with a congenital complex torcular dural arteriovenous fistula (DAVF) who later, in his teenage years, developed several vermian cavernomas within a large cerebellar developmental venous anomaly (DVA). The patient had initially presented with an abnormally large head circumference but no neurological deficits. He underwent several partial embolization procedures in an attempt to decrease the blood supply of the fistula over the course of 8 years. Nine years following initial presentation, he presented with a fourth ventricular hemorrhage, due to development of a new vermian cavernoma adjacent to a previously known vermian DVA and suffered subsequent mild left-sided hemiataxia from which he later recovered...
February 17, 2017: Journal of Neurosurgery. Pediatrics
Tamara Illescas, Pilar Martínez-Ten, Carmina Bermejo, María Estévez, Begoña Adiego
OBJECTIVE: The brainstem-vermis angle (BVA) and the brainstem-tentorium angle (BTA) have been proposed to quantify vermian and tentorial alterations associated to fetal posterior fossa malformations. Our objective is to evaluate the intra- and inter-observer agreement for the measurement of these angles during the prenatal ultrasound scan. METHODS: Fifteen 3D sets from fetuses with posterior fossa pathology were processed by multiplanar navigation. Four experts in prenatal ultrasound measured the BVA and the BTA on a mid-sagittal view of the fetal brain, following the criteria described by Volpe(1)...
March 13, 2017: Journal of Maternal-fetal & Neonatal Medicine
Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, Jean Samuel, Ludger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan Zuchner, Albena Jordanova, Peter Vangheluwe, Ivailo Tournev, Rebecca Schüle
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performed whole exome sequencing and homozygosity mapping and identified a homozygous p.Thr512Ile (c.1535C > T) mutation in ATP13A2. Molecular defects in this gene have been causally associated with Kufor-Rakeb syndrome (#606693), an autosomal recessive form of juvenile-onset parkinsonism, and neuronal ceroid lipofuscinosis (#606693), a neurodegenerative disorder characterized by the intracellular accumulation of autofluorescent lipopigments...
February 2017: Brain: a Journal of Neurology
Catalina Vasilescu, Pirjo Isohanni, Maarit Palomäki, Helena Pihko, Anu Suomalainen, Christopher J Carroll
Genetic leukoencephalopathies are a heterogeneous group of central nervous system disorders with white matter involvement. In a Finnish patient, we identified a novel homozygous disease-causing variant in HIKESHI, c.11G>C, p.(Cys4Ser), leading to hypomyelinating leukoencephalopathy with periventricular cysts and vermian atrophy. A founder Ashkenazi-Jewish disease-causing variant recently linked Hikeshi and its heat-shock protective function to leukoencephalopathy. In our patient, clinical features of lower limb spasticity, optic atrophy, nystagmus, and severe developmental delay were similar to reported patients...
February 2017: European Journal of Human Genetics: EJHG
Larissa Gabor, Huseyin Canaz, Gokhan Canaz, Nursu Kara, Elif Yilmaz Gulec, Ibrahim Alatas
PURPOSE: Foramina parietalia permagna is a variable intramembranous ossification defect of the parietal bones. Foramina parietalia permagna have an autosomal dominant inheritance, and it is showed that mutations in chromosome 5 and 11 are causing this anomaly. Enlarged parietal foramina occurs extremely rare. They are usually asymptomatic, but occasional headache, vomiting, pain over unprotected cerebral cortex, and seizures may be experienced by the patients. In the literature, some associated congenital bony defects, soft tissue pathologies, underlying neuronal deficits, and vascular variations have been described...
December 14, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Satoshi Matsuo, Serhat Baydin, Abuzer Güngör, Koichi Miki, Noritaka Komune, Ryota Kurogi, Koji Iihara, Albert L Rhoton
OBJECTIVE A common approach to lesions of the pineal region is along the midline below the torcula. However, reports of how shifting the approach off midline affects the surgical exposure and relationships between the tributaries of the vein of Galen are limited. The purpose of this study is to examine the microsurgical and endoscopic anatomy of the pineal region as seen through the supracerebellar infratentorial approaches, including midline, paramedian, lateral, and far-lateral routes. METHODS The quadrigeminal cisterns of 8 formalin-fixed adult cadaveric heads were dissected and examined with the aid of a surgical microscope and straight endoscope...
October 7, 2016: Journal of Neurosurgery
Cenk Gezer, Atalay Ekin, Naciye Sinem Gezer, Ulas Solmaz, Mehmet Ozeren
BACKGROUND: Evaluation of the cerebellum and vermis is one of the integral parts of the fetal cranial anomaly screening. OBJECTIVES: The aim of this study was to create a nomogram for fetal vermis measurements between 17 and 30 gestational weeks. PATIENTS AND METHODS: This prospective study was conducted on 171 volunteer pregnant women between March 2013 and December 2014. Measurements of the fetal cerebellar vermis diameters in the sagittal plane were performed by two-dimensional transabdominal ultrasonography...
April 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
K Kamimura, M Nakajo, Y Fukukura, T Iwanaga, T Saito, M Sasaki, T Fujisaki, A Takemura, T Okuaki, T Yoshiura
BACKGROUND AND PURPOSE: DWI with conventional single-shot EPI of the pituitary gland is hampered by strong susceptibility artifacts. Our purpose was to evaluate the feasibility of intravoxel incoherent motion assessment by using DWI based on TSE of the normal anterior pituitary lobe. MATERIALS AND METHODS: The intravoxel incoherent motion parameters, including the true diffusion coefficient (D), the perfusion fraction (f), and the pseudo-diffusion coefficient (D*), were obtained with TSE-DWI in 5 brain regions (the pons, the WM and GM of the vermis, and the genu and splenium of the corpus callosum) in 8 healthy volunteers, and their agreement with those obtained with EPI-DWI was evaluated by using the intraclass correlation coefficient...
December 2016: AJNR. American Journal of Neuroradiology
Sarah Wente, Simone Schröder, Johannes Buckard, Hans-Martin Büttel, Florian von Deimling, Wilfried Diener, Martin Häussler, Susanne Hübschle, Silvia Kinder, Gerhard Kurlemann, Christoph Kretzschmar, Michael Lingen, Wiebke Maroske, Dirk Mundt, Iciar Sánchez-Albisua, Jürgen Seeger, Sandra P Toelle, Eugen Boltshauser, Knut Brockmann
BACKGROUND: The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man catalog of genetic disorders, others consider COMA merely a clinical symptom. METHODS: We performed a retrospective multicenter data collection study with re-evaluation of clinical and neuroimaging data of 21 previously unreported patients (8 female, 13 male, ages ranging from 2 to 24 years) diagnosed as having COMA...
2016: Orphanet Journal of Rare Diseases
Harshal Sathe, Sagar Karia, Avinash De Sousa, Nilesh Shah
Obsessive compulsive symptoms have been reported in frontal lobe tumours and basal ganglia lesions. We report herewith a case of an adolescent who had a vermian cystic mass for which he underwent excision surgery. Three months postsurgery family members noticed that he started with repeated hand washing and abnormal walking pattern. Also, he developed bedwetting in sleep at night. He was given clinical diagnosis of Obsessive-Compulsive Disorder (OCD) and Nocturnal enuresis following a cerebellar mass removal which improved with fluoxetine and impiramine respectively...
May 2016: Journal of Clinical and Diagnostic Research: JCDR
Angela Di Giannatale, Andrea Carai, Antonella Cacchione, Antonio Marrazzo, Vito Andrea Dell'Anna, Giovanna Stefania Colafati, Francesca Diomedi-Camassei, Evelina Miele, Agnese Po, Elisabetta Ferretti, Franco Locatelli, Angela Mastronuzzi
BACKGROUND: Medulloblastoma is the most common malignant brain tumor in children. To date only few cases of medulloblastoma with hemorrhages have been reported in the literature. Although some studies speculate on the pathogenesis of this anomalous increased vascularization in medulloblastoma, the specific mechanism is still far from clearly understood. A correlation between molecular medulloblastoma subgroups and hemorrhagic features has not been reported, although recent preliminary studies described that WNT-subtype tumors display increased vascularization and hemorrhaging...
July 15, 2016: BMC Neurology
Makoto Ideguchi, Takafumi Nishizaki, Norio Ikeda, Shigeki Nakano, Tomomi Okamura, Natsumi Fujii, Tokuhiro Kimura, Eiji Ikeda
INTRODUCTION: Well-differentiated papillary thyroid carcinoma generally (PTC) have a favorable prognosis. This metastasis is rare in the central nervous system. Brain metastasis has a relatively poor prognosis. We present a rare case of cerebellar metastasis, one that mimics a solid type cerebellar hemangioblastoma and because of which it was very hard to reach accurate preoperative diagnosis. Accurate diagnosis was challenging because of the similar imaging and histopathological findings for these two tumors...
2016: SpringerPlus
Konstantinos Natsis, Christos Lyrtzis, Trifon Totlis, Nikolaos Anastasopoulos, Maria Piagkou
PURPOSE: Our study highlights the morphometry of the partial and complete atlas occipitalization (AOZ), its coexistence with fusions of the 2nd and 3rd cervical vertebrae and morphological and morphometric abnormalities of the posterior cranial fossa that are of paramount neurological importance. METHODS: One hundred and eighty adult dry skulls, the atlas and axis vertebrae were examined. RESULTS: Four skulls (2.2 %) showed AOZ. Two of them (1...
May 18, 2016: Surgical and Radiologic Anatomy: SRA
Hiroaki Nagashima, Tatsuya Nagashima, Atsufumi Kawamura, Kazuki Yamamoto, Makiko Yoshida, Daiichiro Hasegawa, Yoshiyuki Kosaka, Eiji Kohmura
It is extremely rare for metastasised medulloblastoma to form a large tumour in the suprasellar region. We present a case of medulloblastoma with large suprasellar metastasis at initial presentation. A 3-year and 5-month-old boy presented with a 1-month history of vomiting and loss of appetite, and body weight. Computed tomography and magnetic resonance imaging revealed a 20 mm × 20 mm mass in the suprasellar region and a 30 mm × 30 mm mass in the fourth cerebral ventricle. We performed endoscopic biopsy of the suprasellar tumour, and subsequently totally removed the vermian tumour through a suboccipital craniotomy...
2016: Neurologia i Neurochirurgia Polska
Nishanth Sadashiva, Shilpa Rao, Dwarakanath Srinivas, Dhaval Shukla
Meningioma's occurring intraventricular region are rare and these occurring in the fourth ventricle is even rare. Because of the rarity, it is not usually considered as a differential diagnosis in any age group. Clinical features and Imaging is not characteristic, and most of them are thought to be some different tumor. Here, we discuss two cases harboring a primary fourth ventricular meningioma Grade II, which was surgically excised successfully. Total excision was achieved in both cases and as the tumor was firm to soft and vermian splitting was not required...
April 2016: Journal of Neurosciences in Rural Practice
Yin Xi, Emily Brown, April Bailey, Diane M Twickler
PURPOSE: To provide normal biometry of the cerebellar vermis using fetal MR and determine threshold values associated with abnormal neurologic outcome. MATERIALS AND METHODS: Cerebellar vermis biometry was applied in prospective, cross-sectional evaluation of fetal brains. Vermis length and inferior vermian distance were obtained in mid-sagittal planes using T2-weighted, single-shot sequences with 1.5 Tesla MR. Measurements were compared with reference nomograms from a retrospective review of fetal brains with normal intracranial anatomy...
April 18, 2016: Journal of Magnetic Resonance Imaging: JMRI
A Khalil, S Bennet, B Thilaganathan, D Paladini, P Griffiths, J S Carvalho
OBJECTIVES: Studies have shown an association between congenital heart defects (CHDs) and postnatal brain abnormalities and neurodevelopmental delay. Recent evidence suggests that some of these brain abnormalities are present before birth. The primary aim of this study was to perform a systematic review to quantify the prevalence of prenatal brain abnormalities in fetuses with CHDs. METHODS: MEDLINE, EMBASE and The Cochrane Library were searched electronically. Reference lists within each article were hand-searched for additional reports...
September 2016: Ultrasound in Obstetrics & Gynecology
E Katorza, E Bertucci, S Perlman, S Taschini, R Ber, Y Gilboa, V Mazza, R Achiron
BACKGROUND AND PURPOSE: Normal biometry of the fetal posterior fossa rules out most major anomalies of the cerebellum and vermis. Our aim was to provide new reference data of the fetal vermis in 4 biometric parameters by using 3 imaging modalities, 2D ultrasound, 3D ultrasound, and MR imaging, and to assess the relation among these modalities. MATERIALS AND METHODS: A retrospective study was conducted between June 2011 and June 2013. Three different imaging modalities were used to measure vermis biometry: 2D ultrasound, 3D ultrasound, and MR imaging...
July 2016: AJNR. American Journal of Neuroradiology
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