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leukodystrophy mri

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https://www.readbyqxmd.com/read/28302242/vanishing-white-matter-vwm-disease-presenting-as-neuro-ovarian-failure
#1
Abidullah Khan, Mohammad Humayun, Maimoona Ayub, Iqbal Haider, Fahad Ajmal, Syed Saad Shah
A 19-year girl was admitted with a one-month history of worsening spastic paraparesis, cerbellar ataxia, visual decline and worsening headaches on a background of walking difficulty, progressive quadriparesis and migraine since the age of 10 years. She had no sensory loss, and cranial nerves examination was notable for optic atrophy with crescent formation only. She had primary amenorrhea and underdeveloped secondary sexual characteristics. Ultrasonograhic studies of the pelvis confirmed small ovaries, and uterus...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28254515/hereditary-cerebral-small-vessel-disease-and-stroke
#2
REVIEW
Christian Baastrup Søndergaard, Jørgen Erik Nielsen, Christine Krarup Hansen, Hanne Christensen
Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose of this systematic review is to provide a guide for determining when to consider molecular genetic testing in patients presenting with small vessel disease and stroke. CADASIL, CARASIL, collagen type IV mutations (including PADMAL), retinal vasculopathy with cerebral leukodystrophy, Fabry disease, hereditary cerebral hemorrhage with amyloidosis, and forkhead box C1 mutations are described in terms of genetics, pathology, clinical manifestation, imaging, and diagnosis...
February 22, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28249300/4h-leukodystrophy-a-brain-magnetic-resonance-imaging-scoring-system
#3
Suzanne Vrij-van den Bos, Janna A Hol, Roberta La Piana, Inga Harting, Adeline Vanderver, Frederik Barkhof, Ferdy Cayami, Wessel N van Wieringen, Petra J W Pouwels, Marjo S van der Knaap, Geneviève Bernard, Nicole I Wolf
4H (hypomyelination, hypodontia and hypogonadotropic hypogonadism) leukodystrophy (4H) is an autosomal recessive hypomyelinating white matter (WM) disorder with neurologic, dental, and endocrine abnormalities. The aim of this study was to develop and validate a magnetic resonance imaging (MRI) scoring system for 4H. A scoring system (0-54) was developed to quantify hypomyelination and atrophy of different brain regions. Pons diameter and bicaudate ratio were included as measures of cerebral and brainstem atrophy, and reference values were determined using controls...
March 1, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28243630/redefining-the-phenotype-of-alsp-and-aars2-mutation-related-leukodystrophy
#4
REVIEW
Rahul Lakshmanan, Matthew E Adams, David S Lynch, Justin A Kinsella, Rahul Phadke, Jonathan M Schott, Elaine Murphy, Jonathan D Rohrer, Jeremy Chataway, Henry Houlden, Nick C Fox, Indran Davagnanam
OBJECTIVE: To provide an overview of the phenotype of 2 clinically, radiologically, and pathologically similar leukodystrophies, adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and alanyl-transfer RNA synthetase 2 mutation-related leukodystrophy (AARS2-L), and highlight key differentiating features. METHODS: ALSP and AARS2-L cases were identified from the adult-onset leukodystrophy database at our institution. In addition, cases with imaging findings were identified from a literature review...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28130616/investigation-of-the-motor-system-in-two-siblings-with-canavan-s-disease-a-combined-transcranial-magnetic-stimulation-tms-diffusion-tensor-imaging-dti-study
#5
V K Kimiskidis, Vasileios Papaliagkas, S Papagiannopoulos, D Zafeiriou, D Kazis, E Tsatsali-Foroglou, Z Kouvatsou, V Kapina, D Koutsonikolas, G Anogianakis, T Geroukis, S Bostantjopoulou
Canavan's disease (CD) is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to spongiform degeneration of the white matter and severe impairment of psychomotor development. We present the cases of two non-Jewish sisters with CD that have a milder and protracted clinical course compared to typical CD. MRI imaging revealed bilateral high-signal-intensity areas in the thalami and the internal capsule and MR spectroscopy showed typical findings for CD (a marked increase in N-acetylaspartate (NAA) levels)...
April 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28117190/childhood-leukodystrophies-a-literature-review-of-updates-on-new-definitions-classification-diagnostic-approach-and-management
#6
REVIEW
Mahmoud Reza Ashrafi, Ali Reza Tavasoli
Childhood leukodystrophies are a growing category of neurological disorders in pediatric neurology practice. With the help of new advanced genetic studies such as whole exome sequencing (WES) and whole genome sequencing (WGS), the list of childhood heritable white matter disorders has been increased to more than one hundred disorders. During the last three decades, the basic concepts and definitions, classification, diagnostic approach and medical management of these disorders much have changed. Pattern recognition based on brain magnetic resonance imaging (MRI), has played an important role in this process...
January 20, 2017: Brain & Development
https://www.readbyqxmd.com/read/27991992/neurological-outcomes-after-hematopoietic-stem-cell-transplantation-for-cerebral-x-linked-adrenoleukodystrophy-late-onset-metachromatic-leukodystrophy-and-hurler-syndrome
#7
Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Lillian Gonçalves Campos, Adriana Vanessa Santini Deyl, Maira Graeff Burin, Carmen Regla Vargas, Ursula da Silveira Matte, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Leonardo Modesti Vedolin, Lauro José Gregianin, Laura Bannach Jardim
Objective: To describe survival and neurological outcomes after HSCT for these disorders. Methods: Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results: Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications...
December 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27927234/cytotoxic-edema-and-diffusion-restriction-as-an-early-pathoradiologic-marker-in-canavan-disease-case-report-and-review-of-the-literature
#8
Steven T Merrill, Gary R Nelson, Nicola Longo, Joshua L Bonkowsky
BACKGROUND: Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly understood. RESULTS: We report a new presentation of a patient found to have Canavan disease; brain magnetic resonance imaging (MRI) revealed white matter cytotoxic edema, indicative of an acute active destructive process. We performed a comprehensive review of published cases of Canavan disease reporting brain MRI findings, and found that cytotoxic brain edema is frequently reported in early Canavan disease...
December 7, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27860360/homozygous-variants-in-pyrroline-5-carboxylate-reductase-2-pycr2-in-patients-with-progressive-microcephaly-and-hypomyelinating-leukodystrophy
#9
Linyan Meng, Taraka Donti, Fan Xia, Zhiyv Niu, Aisha Al Shamsi, Jozef Hertecant, Fatma Al-Jasmi, James B Gibson, Honey Nagakura, Jing Zhang, Weimin He, Christine Eng, Yaping Yang, Sarah H Elsea
Pyrroline-5-carboxylate reductase 2, encoded by PYCR2, is one of the three homologous enzymes that catalyze the last step of proline synthesis. Homozygous variants in PYCR2 have been reported in patients from multiple consanguineous families with hypomyelinating leukodystrophy 10 (HLD10) (MIM: 616420). Here, we report five additional patients from three families with homozygous nonsense or missense variants in PYCR2, identified through clinical exome sequencing. All patients presented with postnatally acquired microcephaly, moderate to profound global developmental delay, and failure to thrive...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27852030/-a-case-of-pol-iii-related-leukodystrophy-with-homozygous-mutation-in-polr3a
#10
Tomoaki Shima, Takeshi Fujimoto, Teiichiro Miyazaki, Fumiaki Nonaka
We describe a 27-year-old man with mental retardation, symptomatic epilepsy, myopia, and cerebellar ataxia without spontaneous puberty whose brain magnetic resonance imaging showed hypomyelination. He had child-like facial appearance, with thin facial hair. He had no underarm and pubic hairs, and his penis was small. Laboratory tests showed low levels of luteinizing hormone, follicle-stimulating hormone, and testosterone. Brain MRI showed diffuse hypomyelination, atrophy of the cerebellum and brainstem, and hypoplastic corpus callosum...
November 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27843092/rmnd1-related-leukoencephalopathy-with-temporal-lobe-cysts-and-hearing-loss-another-mendelian-mimicker-of-congenital-cytomegalovirus-infection
#11
Nicole Ulrick, Amy Goldstein, Cas Simons, Ryan J Taft, Guy Helman, Amy Pizzino, Miriam Bloom, Julie Vogt, Karen Pysden, Daria Diodato, Diego Martinelli, Ahmad Monavari, Daniela Buhas, Clara D M van Karnebeek, Imen Dorboz, Odile Boespflug-Tanguy, Diana Rodriguez, Martine Tétreault, Jacek Majewski, Genevieve Bernard, Yi Shiau Ng, Robert McFarland, Adeline Vanderver
BACKGROUND: Leukoencephalopathy with temporal lobe cysts may be associated with monogenetic conditions such as Aicardi-Goutières syndrome or RNASET2 mutations and with congenital infections such as cytomegalovirus. In view of the fact that congenital cytomegalovirus is difficult to confirm outside the neonatal period, excluding a Mendelian disorder is extremely relevant, changing family planning and medical management in affected families. We performed diagnostic testing in individuals with leukoencephalopathy with temporal lobe cysts without a definitive diagnosis of congenital cytomegalovirus infection...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27785568/novel-mutations-in-iba57-are-associated-with-leukodystrophy-and-variable-clinical-phenotypes
#12
Alessandra Torraco, Anna Ardissone, Federica Invernizzi, Teresa Rizza, Giuseppe Fiermonte, Marcello Niceta, Nadia Zanetti, Diego Martinelli, Angelo Vozza, Daniela Verrigni, Michela Di Nottia, Eleonora Lamantea, Daria Diodato, Marco Tartaglia, Carlo Dionisi-Vici, Isabella Moroni, Laura Farina, Enrico Bertini, Daniele Ghezzi, Rosalba Carrozzo
Defects of the Fe/S cluster biosynthesis represent a subgroup of diseases affecting the mitochondrial energy metabolism. In the last years, mutations in four genes (NFU1, BOLA3, ISCA2 and IBA57) have been related to a new group of multiple mitochondrial dysfunction syndromes characterized by lactic acidosis, hyperglycinemia, multiple defects of the respiratory chain complexes, and impairment of four lipoic acid-dependent enzymes: α-ketoglutarate dehydrogenase complex, pyruvic dehydrogenase, branched-chain α-keto acid dehydrogenase complex and the H protein of the glycine cleavage system...
October 26, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27785412/neuroradiological-neurophysiological-and-molecular-findings-in-infantile-krabbe-disease-two-case-reports
#13
E Vargiami, E Papathanasiou, S Batzios, M Kyriazi, E Dimitriou, A Anastasiou, H Michelakakis, A-K Giese, D I Zafeiriou
Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC). Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report neuroradiological, neurophysiological and molecular findings in two Greek patients with the infantile form of Krabbe disease. The index patients presented at the age of 3.5 and 6 months, respectively, due to developmental delay. Magnetic resonance imaging (MRI) of the first patient's brain demonstrated signs of leukodystrophy, while nerve conduction velocities (NCVs) were significantly decreased...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27749956/analysis-of-mutations-in-aars2-in-a-series-of-csf1r-negative-patients-with-adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia
#14
David S Lynch, Wei Jia Zhang, Rahul Lakshmanan, Justin A Kinsella, Günes Altiokka Uzun, Merih Karbay, Zeynep Tüfekçioglu, Hasmet Hanagasi, Georgina Burke, Nicola Foulds, Simon R Hammans, Anupam Bhattacharjee, Heather Wilson, Matthew Adams, Mark Walker, James A R Nicoll, Jeremy Chataway, Nick Fox, Indran Davagnanam, Rahul Phadke, Henry Houlden
Importance: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant mutations in the CSF1R (colony-stimulating factor 1) gene. The discovery that CSF1R mutations cause ALSP led to more accurate prognosis and genetic counseling for these patients in addition to increased interest in microglia as a target in neurodegeneration. However, it has been known since the discovery of the CSF1R gene that there are patients with typical clinical and radiologic evidence of ALSP who do not carry pathogenic CSF1R mutations...
December 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27743887/severe-leukoencephalopathy-with-cortical-involvement-and-peripheral-neuropathy-due-to-folr1-deficiency
#15
Yu Kobayashi, Jun Tohyama, Tomoyuki Akiyama, Shinichi Magara, Hideshi Kawashima, Noriyuki Akasaka, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Cerebral folate deficiency due to folate receptor 1 gene (FOLR1) mutations is an autosomal recessive disorder resulting from a brain-specific folate transport defect. It is characterized by late infantile onset, severe psychomotor regression, epilepsy, and leukodystrophy. We describe a consanguineous girl exhibiting severe developmental regression, intractable epilepsy, polyneuropathy, and profound hypomyelination with cortical involvement. Magnetic resonance imaging showed cortical disturbances in addition to profound hypomyelination and cerebellar atrophy...
March 2017: Brain & Development
https://www.readbyqxmd.com/read/27734837/novel-aars2-gene-mutation-producing-leukodystrophy-a-case-report
#16
Laszlo Szpisjak, Nora Zsindely, Jozsef I Engelhardt, Laszlo Vecsei, Gabor G Kovacs, Peter Klivenyi
AARS2 gene (NM_020745.3) mutations result in two different phenotypic diseases: infantile mitochondrial cardiomyopathy and late-onset leukoencephalopathy. The patient's first symptoms appeared at the age of 18 years with behavioral changes and psychiatric problems. Some years later, extrapyramidal symptoms, cognitive impairment, nystagmus, dysarthria and pyramidal symptoms also developed. The brain magnetic resonance imaging (MRI) indicated extensive white matter abnormalities. The diagnosis of AARS2 gene mutations causing leukodystrophy was confirmed by genetic testing...
October 13, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27606346/neurologic-syndrome-associated-with-homozygous-mutation-at-mag-sialic-acid-binding-site
#17
Ricardo H Roda, Edmond J FitzGibbon, Houda Boucekkine, Alice B Schindler, Craig Blackstone
The MAG gene encodes myelin-associated glycoprotein (MAG), an abundant protein involved in axon-glial interactions and myelination during nerve regeneration. Several members of a consanguineous family with a clinical syndrome reminiscent of Pelizaeus-Merzbacher disease and demyelinating leukodystrophy on brain MRI were recently found to harbor a homozygous missense p.Ser133Arg MAG mutation. Here, we report two brothers from a nonconsanguineous family afflicted with progressive cognitive impairment, neuropathy, ataxia, nystagmus, and gait disorder...
August 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/27606023/diffusion-weighted-magnetic-resonance-imaging-findings-in-a-case-of-metachromatic-leukodystrophy
#18
Paramdeep Singh, Rupinderjeet Kaur
Metachromatic leukodystrophy (MLD) is caused by insufficiency of arylsulfatase A resulting in impaired myelination. Diffusion magnetic resonance (MR) imaging features of this disease have been rarely reported. We report diffusion MR imaging of MLD in a 12-month-old male who presented with regression of milestones and progressive spasticity.
April 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27564080/update-on-leukodystrophies-a-historical-perspective-and-adapted-definition
#19
REVIEW
Sietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, Guy Helman, Sakkubai Naidu, Raphael Schiffmann, Susan Blaser, Adeline Vanderver, Nicole I Wolf, Marjo S van der Knaap
Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known. The majority of the leukodystrophy patients remained without a specific diagnosis. In the following two decades, magnetic resonance imaging pattern recognition revolutionized the field, allowing the definition of numerous novel leukodystrophies. Their genetic defects were usually identified through genetic linkage studies...
December 2016: Neuropediatrics
https://www.readbyqxmd.com/read/27442695/alexander-disease-astrogliopathy-considered-as-leukodystrophy-experience-of-an-institution
#20
Hanna Mierzewska, Magdalena Mierzewska-Schmidt, Gajja S Salomons, Magdalena Dudzińska, Elżbieta Szczepanik
Alexander Disease (ALXDRD) is an autosomal dominant leukodystrophy caused by mutation in one allele of GFAP gene, encoding glial fibrillary acidic protein (GFAP). Most cases occur due to de novo. There are three clinical subtypes of ALXDRD: infantile, juvenile and adult form, but congenital form is also outlined. The disease's spectrum comprises of macrocephaly, progressive pyramidal signs, and seizures in congenital and infantile subtypes. Neuropathologically are enormous number of Rosenthal fibers (RF) mainly around vessels, in subependymal and subpial regions are found...
April 2016: Developmental Period Medicine
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