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Tonsillar ectopia

Braden J Lawrence, Aintzane Urbizu, Philip A Allen, Francis Loth, R Shane Tubbs, Alexander C Bunck, Jan-Robert Kröger, Brandon G Rocque, Casey Madura, Jason A Chen, Mark G Luciano, Richard G Ellenbogen, John N Oshinski, Bermans J Iskandar, Bryn A Martin
BACKGROUND: Type 1 Chiari malformation (CM-I) has been historically defined by cerebellar tonsillar position (TP) greater than 3-5 mm below the foramen magnum (FM). Often, the radiographic findings are highly variable, which may influence the clinical course and patient outcome. In this study, we evaluate the inter-operator reliability (reproducibility) of MRI-based measurement of TP in CM-I patients and healthy controls. METHODS: Thirty-three T2-weighted MRI sets were obtained for 23 CM-I patients (11 symptomatic and 12 asymptomatic) and 10 healthy controls...
December 17, 2018: Fluids and Barriers of the CNS
Neena I Marupudi, Carolyn Harris, Tanya Pavri, Brenna Mell, Rasanjeet Singh, Steven D Ham, Sandeep Sood
OBJECTIVE: Lumboperitoneal (LP) shunts have a role not only in pseudotumor cerebri, but also in patients with slit-like ventricles who are treated with CSF shunting on a chronic basis. Hesitation to utilize LP shunts is based on previous conventional beliefs including the tendency for overdrainage, difficulties accessing the shunt to tap or revise, and risk of progressive cerebellar tonsillar herniation. The authors hypothesized that the use of horizontal-vertical (HV) valves may reduce the risk of these complications, particularly overdrainage and development of Chiari malformation...
September 21, 2018: Journal of Neurosurgery. Pediatrics
Alice Maguolo, Franco Antoniazzi, Alice Spano, Elena Fiorini, Rossella Gaudino, Margherita Mauro, Gaetano Cantalupo, Paolo Biban, Silvia Maitz, Paolo Cavarzere
BACKGROUND: Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which present a wide range of phenotypic variability, are often caused by mosaic somatic mutations in the genes associated with the PI3K/AKT/mTOR cellular pathway, a signaling cascade that plays a key role in cellular growth. Overgrowth syndromes are frequently misdiagnosed...
September 19, 2018: Italian Journal of Pediatrics
Yasuhiko Hayashi, Issei Fukui, Yasuo Sasagawa, Kouichi Misaki, Masahiro Oishi, Mitsutoshi Nakada
Background: Foramen magnum decompression (FMD) has been acknowledged as a standard surgical procedure for symptomatic patients with Chiari malformation type I (CM-I). However, even if dural incision is necessary during FMD, the procedure of cutting off the occipital sinus has not been regarded as a safe option. Case Description: A 27-year-old woman with intractable occipital headache was diagnosed with CM-I without syringomyelia. Preoperative examination revealed a large oblique occipital sinus on her right side...
2018: Surgical Neurology International
Radhika Dhamija, Steven M Weindling, Alyx B Porter, Leland S Hu, Christopher P Wood, Joseph M Hoxworth
Background: We retrospectively reviewed the neuroimaging findings of patients with Cowden syndrome and determined their frequency in a single cohort. Methods: Electronic medical records were queried from January 1999 to January 2017 to identify patients who fit the clinical criteria for diagnosis of Cowden syndrome with or without a documented PTEN mutation. Patients with brain MRI examinations were then identified. Results: We retrospectively identified 44 patients with Cowden syndrome, 22 of whom had neuroimaging for review...
June 2018: Neurology. Clinical Practice
Enver I Bogdanov, Aisylu T Faizutdinova, Elena G Mendelevich, Alexey S Sozinov, John D Heiss
BACKGROUND: Epidemiology can assess the effect of Chiari I malformation (CM1) on the neurological health of a population and evaluate factors influencing CM1 development. OBJECTIVE: To analyze the regional and ethnic differences in the prevalence of CM1. METHODS: The population of the Republic of Tatarstan (RT) in the Russian Federation was evaluated for patients with CM1 symptoms over an 11-yr period. Typical symptoms of CM1 were found in 868 patients...
May 21, 2018: Neurosurgery
Ahmet Öğrenci, Orkun Koban, Murat Ekşi, Onur Yaman, Sedat Dalbayrak
Downward displacement of cerebellar tonsils more than 5 mm below the foramen magnum is named as Chiari type I malformation and named benign tonsillar ectopia if herniation is less than 3 mm. It does not just depend on congenital causes. There are also some reasons for acquired Chiari Type 1 and benign tonsillar ectopia/herniation. Trauma is one of them. Trauma may increase tonsillar ectopia or may be the cause of new-onset Chiari type 1. The relationship between the tonsil contusion and its position is unclear...
October 15, 2017: Open Access Macedonian Journal of Medical Sciences
Hiroaki Nagashima, Katsu Mizukawa, Masaaki Taniguchi, Yusuke Yamamoto, Eiji Kohmura
BACKGROUND: Gorham's syndrome is a rare bone disorder characterized by massive osteolysis of unknown etiology. There are no reports of comorbidity involving cerebrospinal fluid (CSF) leakage and Chiari I malformation with Gorham's syndrome. Here, we report an unusual case of an acute presyrinx state complicated by bacterial meningitis due to CSF leakage and Chiari I malformation associated with Gorham's disease of the skull base. CASE PRESENTATION: A 25-year-old woman with Chiari I malformation associated with Gorham's syndrome presented with aggressive paresthesia following bacterial meningitis...
September 2017: Neurologia i Neurochirurgia Polska
Serpil Kurtcan, Alpay Alkan, Huseyin Yetis, Umit Tuzun, Ayse Aralasmak, Huseyin Toprak, Huseyin Ozdemir
We aimed to evaluate the differences between apparent diffusion coefficient (ADC), fractional anisotropy (FA), axial diffusivity (AD), and radial diffusivity (RD) values obtained from different cranial sites in subjects with Chiari I Malformation (CM-I) and borderline tonsillar ectopia (BTE), and to determine correlations between diffusion tensor imaging (DTI) metrics and the severity of tonsillar ectopia. A total of 73 subjects with CM-I and BTE and 35 control underwent MRI and DTI. In our study, ADC values measured from the level of medulla oblongata and the RD values measured in middle cerebellar peduncles, thalamus, and globus pallidus were higher in CM-I patients than in controls...
March 2018: Acta Neurologica Belgica
Fabian N Fries, Philipp Hendrix, Titus J Brinker, Marios Loukas, R Shane Tubbs
INTRODUCTION: Although Hans Chiari made significant and meaningful contributions to our understanding and classification of hindbrain herniations, others have also contributed to this knowledge. One figure who has been lost to history is Otto Mennicke. Herein, we discuss his role in our understanding of tonsillar ectopia and his life and connection to Hans Chiari. CONCLUSIONS: Our knowledge of what is now known as the Chiari malformations has been shaped by several clinicians including Otto Mennicke...
May 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Yiping Wu, Chuzhong Li, Xuyi Zong, Xinsheng Wang, Songbai Gui, Caiping Gu, Yazhuo Zhang
The correlation between hydrocephalus and Chiari type I malformation (CIM) has been debated since Chiari's first descriptions of CIM but some studies have shown that CIM and hydrocephalus (HCP) could cause symptoms/disease of each other or vice versa. Recent research has found that treatment focused on hydrocephalus with ventricle enlargement also provides alleviation of CIM and even of syringomyelia. However, the lack of consensus among previous studies left unanswered the question of how endoscopic third ventriculostomy (ETV) addresses CIM and why it fails...
January 2018: Neurosurgical Review
Radek Frič, Erika Kristina Lindstrøm, Geir Andre Ringstad, Kent-André Mardal, Per Kristian Eide
BACKGROUND: In symptomatic Chiari malformation type 1 (CMI), impaired intracranial compliance (ICC) is associated with an increased cranio-spinal pulsatile pressure gradient. Phase-contrast magnetic resonance imaging (MRI) represents a non-invasive modality for the assessment of the pulse pressure gradient at the cranio-cervical junction (CCJ). We wished to explore how the MRI-derived pulse pressure gradient (MRI-dP) compares with invasively measured pulsatile intracranial pressure (ICP) in CMI, and with healthy controls...
December 2016: Acta Neurochirurgica
Edith V Sullivan, Barton Lane, Dongjin Kwon, M J Meloy, Susan F Tapert, Sandra A Brown, Ian M Colrain, Fiona C Baker, Michael D De Bellis, Duncan B Clark, Bonnie J Nagel, Kilian M Pohl, Adolf Pfefferbaum
Structural MRI of volunteers deemed "normal" following clinical interview provides a window into normal brain developmental morphology but also reveals unexpected dysmorphology, commonly known as "incidental findings." Although unanticipated, these anatomical findings raise questions regarding possible treatment that could even ultimately require neurosurgical intervention, which itself carries significant risk but may not be indicated if the anomaly is nonprogressive or of no functional consequence...
October 2017: Brain Imaging and Behavior
Kyle J Steinman, Sarah J Spence, Melissa B Ramocki, Monica B Proud, Sudha K Kessler, Elysa J Marco, LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, Wendy K Chung, Elliott H Sherr
Chromosome 16p11.2 deletions and duplications are among the most frequent genetic etiologies of autism spectrum disorder (ASD) and other neurodevelopmental disorders, but detailed descriptions of their neurologic phenotypes have not yet been completed. We utilized standardized examination and history methods to characterize a neurologic phenotype in 136 carriers of 16p11.2 deletion and 110 carriers of 16p11.2 duplication-the largest cohort to date of uniformly and comprehensively characterized individuals with the same 16p copy number variants (CNVs)...
November 2016: American Journal of Medical Genetics. Part A
Karen W Gripp, Kimberly A Aldinger, James T Bennett, Laura Baker, Jessica Tusi, Nina Powell-Hamilton, Deborah Stabley, Katia Sol-Church, Andrew E Timms, William B Dobyns
Noonan syndrome is a rasopathy caused by mutations in multiple genes encoding components of the RAS/MAPK pathway. Despite its variable phenotype, limited genotype-phenotype correlations exist. Noonan syndrome with loose anagen hair (NS-LAH) is characterized by its distinctive hair anomalies, developmental differences, and structural brain abnormalities and is caused by a single recurrent missense SHOC2 mutation. SHOC2 forms a complex with protein phosphatase 1 (PP1C). Protein phosphatases counterbalance kinases and control activation of signaling proteins, such as the mitogen-activated protein kinases of the RAS/MAPK pathway...
September 2016: American Journal of Medical Genetics. Part A
R Shane Tubbs, Huang Yan, Amin Demerdash, Joshua J Chern, Fabian N Fries, Rod J Oskouian, W Jerry Oakes
BACKGROUND: We hypothesized that by using coronal MRI, Chiari I malformation could be more precisely diagnosed, would provide simple anatomic landmarks, would provide information regarding asymmetry of hindbrain herniation, and would be a better method for analyzing the tonsillar herniation postoperatively when the opisthion has been removed. METHODS: Fifty consecutive pediatric patients diagnosed with Chiari I malformation had comparison between the measurements of their caudally descended cerebellar tonsils on midsagittal and coronal MRI images...
July 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Charles Raybaud
No abstract text is available yet for this article.
July 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Benjamin C Kennedy, Kathleen M Kelly, Richard C E Anderson, Neil A Feldstein
INTRODUCTION: Syrinx has been reported in 25-85 % of children with Chiari malformation type I (CMI), and it is most commonly cervical in location. As a result, cervical MRI is routinely included in an evaluation for CMI. Isolated thoracic syrinx without involvement of the cervical cord in this population is uncommon but clinically important because its presence may influence the decision to operate, surgical techniques employed, or interpretation of follow-up imaging. The purpose of this study was to determine the incidence of isolated thoracic syrinx in a large group of children evaluated for CMI...
March 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Zezhang Zhu, Huang Yan, Xiao Han, Mengran Jin, Dingding Xie, Shifu Sha, Zhen Liu, Bangping Qian, Feng Zhu, Yong Qiu
STUDY DESIGN: A retrospective radiographic analysis. OBJECTIVE: The aim of this study was to investigate the scoliosis curve patterns/features and magnetic resonance imaging (MRI) tonsillar ectopia characteristics in Chiari I malformation without syringomyelia (CMI-only). SUMMARY OF BACKGROUND DATA: The development of scoliosis associated with a CMI typically has been ascribed to the presence of syringomyelia. However, a subset of CMI patients with scoliosis may not have a concomitant syrinx...
March 2016: Spine
I Jonathan Pomeraniec, Alexander Ksendzovsky, Ahmed J Awad, Francis Fezeu, John A Jane
OBJECT The natural and surgical history of Chiari malformation Type I (CM-I) in pediatric patients is currently not well described. In this study the authors discuss the clinical and radiological presentation and outcomes in a large cohort of pediatric CM-I patients treated with either conservative or surgical management. METHODS The authors retrospectively reviewed 95 cases involving pediatric patients with CM-I who presented between 2004 and 2013. The patients ranged in age from 9 months to 18 years (mean 8 years) at presentation...
March 2016: Journal of Neurosurgery. Pediatrics
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