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leukodystrophy mri

Cornelia Laule, Irene M Vavasour, Elham Shahinfard, Burkhard Mädler, Jing Zhang, David K B Li, Alex L MacKay, Sandra M Sirrs
BACKGROUND AND PURPOSE: Late-onset adult Krabbe disease is a very rare demyelinating leukodystrophy, affecting less than 1 in a million people. Hematopoietic stem cell transplantation (HSCT) strategies can stop the accumulation of toxic metabolites that damage myelin-producing cells. We used quantitative advanced imaging metrics to longitudinally assess the impact of HSCT on brain abnormalities in adult-onset Krabbe disease. METHODS: A 42-year-old female with late-onset Krabbe disease and an age/sex-matched healthy control underwent annual 3T MRI (baseline was immediately prior to HSCT for the Krabbe subject)...
February 26, 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
Guy Helman, Sunita Venkateswaran, Adeline Vanderver
Unique clinical presentations and magnetic resonance imaging patterns can help differentiate the various adult presentations of leukodystrophies and leukoencephalopathies. White-matter disorders are genetically based disorders affecting the central nervous system white matter, with or without peripheral nervous system involvement. These disorders predominantly affect patients in the pediatric population; however, a number of classic leukodystrophies can present in adulthood. Disease progression can be of variable onset with a broad range of symptoms, usually progressing from cognitive dysfunction...
2018: Handbook of Clinical Neurology
Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu, Han Xie, Taoyun Ji, Huifang Wang, Lu Zhao, Haijuan Zhao, Yanling Yang, Hongchun Feng, Hui Xiong, Jinhua Ji, Zhixian Yang, Liping Kou, Ming Li, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Li Li, Huijuan Li, Zhengping Niu, Xiru Wu, Jiangxi Xiao, Yuwu Jiang, Jingmin Wang
OBJECTIVE: Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans. This study was aimed to clarify the clinical and genetic features of HMDs in Chinese population. METHODS: 119 patients with hypomyelinating disorders in Chinese population were enrolled and evaluated based on their history, clinical manifestation, laboratory examinations, series of brain MRI with follow-up, genetic etiological tests including chromosomal analysis, multiplex ligation probe amplification, Sanger sequencing, targeted enrichment-based next-generation sequencing and whole exome sequencing...
2018: PloS One
Amy T Waldman
PURPOSE OF REVIEW: The leukodystrophies, typically considered incurable neurodegenerative disorders, are often diagnosed after irreversible central and peripheral nervous system injury has occurred. Early recognition of these disorders is imperative to enable potential therapeutic interventions. This article provides a summary of the symptoms of and diagnostic evaluation for leukodystrophies, along with the currently available therapies and recent advances in management. RECENT FINDINGS: The leukodystrophies are a rapidly expanding field because of advances in neuroimaging and genetics; however, recognition of the clinical and biochemical features of a leukodystrophy is essential to accurately interpret an abnormal MRI or genetic result...
February 2018: Continuum: Lifelong Learning in Neurology
Chujun Wu, Qingli Sun, Dongsheng Fan
No abstract text is available yet for this article.
January 16, 2018: JAMA Neurology
Wolfgang Köhler, Julian Curiel, Adeline Vanderver
The leukodystrophies are a group of inherited white matter disorders with a heterogeneous genetic background, considerable phenotypic variability and disease onset at all ages. This Review focuses on leukodystrophies with major prevalence or primary onset in adulthood. We summarize 20 leukodystrophies with adult presentations, providing information on the underlying genetic mutations and on biochemical assays that aid diagnosis, where available. Definitions, clinical characteristics, age of onset, MRI findings and treatment options are all described, providing a comprehensive overview of the current knowledge of the various adulthood leukodystrophies...
January 5, 2018: Nature Reviews. Neurology
Yael Hacohen, Thomas Rossor, Kshitij Mankad, Wk 'Kling' Chong, Andrew Lux, Evangeline Wassmer, Ming Lim, Frederik Barkhof, Olga Ciccarelli, Cheryl Hemingway
AIM: To review the demographics and clinical and paraclinical parameters of children with myelin oligodendrocyte glycoprotein (MOG) antibody-associated relapsing disease. METHOD: In this UK-based, multicentre study, 31 children with MOG antibody-associated relapsing disease were studied retrospectively. RESULTS: Of the 31 children studied, 14 presented with acute disseminated encephalomyelitis (ADEM); they were younger (mean 4.1y) than the remainder (mean 8...
December 30, 2017: Developmental Medicine and Child Neurology
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, Kadavigere V Rajagopal, Katta M Girisha, Neerja Gupta, Ashwin Dalal
We ascertained two unrelated consanguineous families with two affected children each having microcephaly, refractory seizures, intellectual disability, and spastic quadriparesis. Magnetic resonance imaging showed atrophy of cerebrum, cerebellum and spinal cord, prominent cisterna magna, symmetric T2 hypo-intensities in the bilateral basal ganglia and thinning of corpus callosum. Whole-exome sequencing of three affected individuals revealed c.105C>A [p.(Tyr35Ter)] variant in AIMP2. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor...
January 2018: Journal of Human Genetics
Florian Brackmann, Roland Coras, Karl Rössler, Cornelia Kraus, Oliver Rompel, Regina Trollmann
Infantile Alexander disease is a rare progressive leukodystrophy caused by autosomal dominant mutations in the (GFAP) gene typically presenting with psychomotor retardation, progressive macrocephaly and refractory epilepsy. Neuroradiological hallmarks are extensive white matter lesions with frontal preponderance as well as signal intensity changes of basal ganglia and medulla oblongata with variable contrast enhancement. Here, we report an atypical manifestation in a 21-month-old boy presenting with flaccid paraparesis and areflexia...
April 2018: Brain & Development
F Ahlhelm, K Shariat, S Götschi, S Ulmer
CLINICAL PROBLEM: Intracerebral cysts are common findings in imaging of the neurocranium and are not always clinically significant. The pathological spectrum of intracerebral cysts is, however, very broad and in addition to incidental findings includes developmental disorders, malformation tumors, primary and secondary neoplasms and infectious etiologies, such as cerebral abscess formation, cysticercosis or residuals after congenital cytomegalovirus infections. Intracerebral cystic defects may be caused by inflammatory central nervous system (CNS) diseases, such as multiple sclerosis as well as by mitochondriopathies, leukodystrophy, electrolyte disturbances or osmotic demyelination syndrome or brain infarctions, e...
February 2018: Der Radiologe
Z J Gao, Q Jiang, Q Chen, K M Xu, Z Q Liu, X B Chen, X L Chen
Objective: To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus. Method: The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Majid Alfadhel, Marwan Nashabat, Muhammad Talal Alrifai, Hesham Alshaalan, Fuad Al Mutairi, Saif A Al-Shahrani, Barbara Plecko, Rawan Almass, Maysoon Alsagob, Faten B Almutairi, Ahmed Al-Rumayyan, Waleed Al-Twaijri, Mohammed Al-Owain, Robert W Taylor, Namik Kaya
Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process required to produce various ISC-containing proteins. These ISC proteins are responsible for essential functions such as glycine cleavage and the formation of lipoic acid, an essential cofactor of respiratory chain complexes. Defects in ISC biogenesis lead to multiple mitochondrial dysfunction syndromes including: ISCA2 with infantile onset leukodystrophy. Recently, a founder mutation, c.229G > A, p.Gly77Ser in ISCA2 was reported to cause Multiple Mitochondrial Dysfunction Syndrome type 4...
October 16, 2017: European Journal of Paediatric Neurology: EJPN
Valeria Sandoval-Rodríguez, Mariana Aurora Cansino-Torres, Michel Sáenz-Farret, Gema Castañeda-Cisneros, Gabriel Moreno, Carlos Zúñiga-Ramírez
Autosomal dominant leukodystrophy is a neurodegenerative disorder caused by either point mutations or duplication of the lamin B1 gene on chromosome 5q23. The typical clinical picture consists of autonomic symptoms as well as cerebellar and pyramidal signs. Here we present the case of a 57-year-old female referred to our clinic due to cognitive decline. Neurological examination was significant for cognitive impairment as well as pyramidal and cerebellar signs. Brain MRI displayed diffuse hyperintense lesions in the subcortical white matter, pontine nuclei, brachium pontis and restiform body...
October 2017: Multiple Sclerosis and related Disorders
Małgorzata Rydzanicz, Teresa Joanna Stradomska, Elżbieta Jurkiewicz, Ewa Jamroz, Piotr Gasperowicz, Grażyna Kostrzewa, Rafał Płoski, Anna Tylki-Szymańska
Zellweger syndrome (ZS) is a consequence of a peroxisome biogenesis disorder (PBD) caused by the presence of a pathogenic mutation in one of the 13 genes from the PEX family. ZS is a severe multisystem condition characterized by neonatal appearance of symptoms and a shorter life. Here, we report a case of ZS with a mild phenotype, due to a novel PEX6 gene mutation. The patient presented subtle craniofacial dysmorphic features and slightly slower psychomotor development. At the age of 2 years, he was diagnosed with adrenal insufficiency, hypoacusis, and general deterioration...
November 2017: Journal of Applied Genetics
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
Farah Naz, Waseem A Mirza, Nauman Hashmani
Introduction We attempted to find the sensitivity and specificity of various pediatric brain masses in the Pakistani population while keeping histopathology or clinical diagnosis as the gold standard.   Methods This was a retrospective study that was conducted from January 2007 to January 2016. We reviewed the records of 204 patients that presented to the radiology department of Aga Khan University Hospital (AKUH). Out of the 204, 135 pediatric patients in the 0-18 age group with focal brain lesions who underwent magnetic resonance spectroscopy (MRS) and a biopsy or clinical diagnosis were included...
August 4, 2017: Curēus
Julian Curiel, Steven Jeffrey Steinberg, Sarah Bright, Ann Snowden, Ann B Moser, Florian Eichler, Holly A Dubbs, Joseph G Hacia, John J Ely, Jocelyn Bezner, Alisa Gean, Adeline Vanderver
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder leading to the accumulation of very long chain fatty acids (VLCFA) due to a mutation in the ABCD1 gene. ABCD1 mutations lead to a variety of phenotypes, including cerebral X-ALD and adrenomyeloneuropathy (AMN) in affected males and 80% of carrier females. There is no definite genotype-phenotype correlation with intrafamilial variability. Cerebral X-ALD typically presents in childhood, but can also present in juveniles and adults...
November 2017: Molecular Genetics and Metabolism
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A Sullivan, Allyn McConkie-Rosell, Sujay Kansagra, Edward C Smith, Mays El-Dairi, Jane Bellet, Martha Ann Keels, Joan Jasien, Peter G Kranz, Richard Noel, Shashi K Nagaraj, Robert K Lark, Daniel S G Wechsler, Daniela Del Gaudio, Marco L Leung, Laura G Hendon, Collette C Parker, Kelly L Jones, David B Goldstein, Vandana Shashi
PurposeTo describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic testing.MethodsGuided by phenotypic information, three children with negative WES underwent targeted single-gene testing.ResultsIndividual 1 had a clinical diagnosis consistent with infantile systemic hyalinosis, although WES and a next-generation sequencing (NGS)-based ANTXR2 test were negative. Sanger sequencing of ANTXR2 revealed a homozygous single base pair insertion, previously missed by the WES variant caller software...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Anil Vasudev Israni, Anirban Mandal
No abstract text is available yet for this article.
April 2017: Journal of Pediatric Neurosciences
Noriko Miyake, Nicole I Wolf, Ferdy K Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J Bent, Karen W Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura-Ohba, Zoya Kingsbury, Bryan R Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J Sinke, Deborah Sival, Irene Stolte-Dijkstra, Andrea Superti-Furga, Nicole Ulrick, Ryan J Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A Neubauer, Cas Simons, Adeline Vanderver
An X-linked condition characterized by the combination of hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) has been observed in only four families, with linkage to Xq25-27, and recent genetic characterization in two families with a common AIFM1 mutation. In our study, 12 patients (6 families) with H-SMD were identified and underwent comprehensive assessment accompanied by whole-exome sequencing (WES). Pedigree analysis in all families was consistent with X-linked recessive inheritance...
December 2017: Neurogenetics
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