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Corpus callosum & encephalopathy

Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, Asako Horino, Takayoshi Koike, Shinsaku Yoshitomi, Tatsuo Mori, Tokito Yamaguchi, Hiroko Ikeda, Nobuhiko Okamoto, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Katsumi Imai
INTRODUCTION: Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). CASE REPORT: A female infant aged 12months was referred to our center because of intractable seizures. The patient was born with birth weight of 3228g after 40weeks of unremarkable gestation...
October 12, 2016: Brain & Development
Mette Engan, John Asle Bjørlykke, Gunnar Moen, Kjetil Børve Lund, Gro Njølstad
BACKGROUND Rotavirus is a common cause of gastroenteritis in children. Neurological manifestations associated with rotavirus infections are well described and range from benign afebrile convulsions to lethal encephalopathy or encephalitis.CASE PRESENTATION We present an uncommon neurological manifestation in a Caucasian child in the course of a rotavirus infection. A 4-year old girl presented with mutism, hypotonia and reduced consciousness. Magnetic resonance imaging revealed diffusion abnormalities in the splenium corpus callosum and bilaterally in the nuclei dentate in the cerebellum...
September 2016: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret G Au, Alessandro Capuano, Emanuela Piermarini, Anna A Ivanova, Joshua W Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V Douglas, Kara Levine, Antonella Sferra, Maria Lisa Dentici, Rolph R Pfundt, Jean-Baptiste Le Pichon, Emily Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M Graham, Carol J Saunders, Enrico Bertini, Richard A Kahn, David A Koolen, Marco Tartaglia
Microtubules are dynamic cytoskeletal elements coordinating and supporting a variety of neuronal processes, including cell division, migration, polarity, intracellular trafficking, and signal transduction. Mutations in genes encoding tubulins and microtubule-associated proteins are known to cause neurodevelopmental and neurodegenerative disorders. Growing evidence suggests that altered microtubule dynamics may also underlie or contribute to neurodevelopmental disorders and neurodegeneration. We report that biallelic mutations in TBCD, encoding one of the five co-chaperones required for assembly and disassembly of the αβ-tubulin heterodimer, the structural unit of microtubules, cause a disease with neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, developmental delay, intellectual disability, seizures, optic atrophy, and spastic quadriplegia...
October 6, 2016: American Journal of Human Genetics
Fangfang Yan, Chao Jiang, Yan Meng, Huijuan Li, Lie Yu, Xiaojie Fu, Youcai Tang, Meimei Zhang
Erythropoietin (EPO) is important for angiogenesis after hypoxia/ischemia. In this study, we investigated whether recombinant human erythropoietin (rhEPO) can enhance angiogenesis, and promote cognitive function through vascular endothelial growth factor (VEGF)/VEGF receptor 2 (VEGFR2) signaling pathway in a rat model of hypoxic-ischemic encephalopathy (HIE). RhEPO, selective VEGFR2 inhibitor (SU5416) or vehicle was administrated by intraperitoneal injection. The assessment for cognitive function begins on day 60 after anoxia...
September 19, 2016: Brain Research
Gulhadiye Avcu, Mehmet Arda Kilinc, Cenk Eraslan, Bulent Karapinar, Fadil Vardar
Mild encephalopathy with a reversible splenial lesion (MERS) is a clinico-radiological syndrome that can be related to infectious and non-infectious conditions. Patients present with mild neurological symptoms, and magnetic resonance imaging typically demonstrate a reversible lesion with transiently reduced diffusion in the splenium of the corpus callosum. Here, we describe MERS in a 10-year-old boy who presented with fever and consciousness and who completely recovered within a few days. Streptococcus pneumoniae was the causative agent...
September 15, 2016: Journal of Infection and Public Health
S Boronat, M Vicente, E Lainez, A Sánchez-Montañez, E Vázquez, L Mangado, L Martínez-Ribot, M Del Campo
Fetal alcohol spectrum disorders (FASD) cause neurodevelopmental abnormalities. However, publications about epilepsy and electroencephalographic features are scarce. In this study, we prospectively performed electroencephalography (EEG) and brain magnetic resonance (MR) imaging in 61 patients with diagnosis of FASD. One patient had multiple febrile seizures with normal EEGs. Fourteen children showed EEG anomalies, including slow background activity and interictal epileptiform discharges, focal and/or generalized, and 3 of them had epilepsy...
September 13, 2016: European Journal of Medical Genetics
Eunmi Lee, Ji Eun Park, Mayu Iida, Tomoya Fujie, Toshiyuki Kaji, Gaku Ichihara, Young Cheol Weon, Yangho Kim
We report the clinical and neuroimaging findings of 4 men who worked in the production of inorganic metal tin ingot from organotin scrap who presented with similar episodes of reversible amnesia. T2-weighted-fluid-attenuated inversion recovery magnetic resonance imaging (FLAIR MRI) scans in 3 of the patients showed symmetric hyperintensity in the frontoparietal periventricular white matter and the corpus callosum, and reduced apparent diffusion coefficients (ADCs) based on diffusion weighted imaging (DWI). One patient had symmetric faint hyperintensity in the parietal periventricular white matter only in the FLAIR images...
September 11, 2016: Neurotoxicology
Tekwani Parmanand H
Marchiafava-Bignami disease is a rare toxic encephalopathy seen mostly in chronic alcoholics due to progressive demyelination and necrosis of the corpus callosum. It may involve adjacent white matter and subcortical regions. We present here the magnetic resonance imaging findings of Machiafava-Bignami disease in a chronic alcoholic patient. In 1903, Italian pathologists Marchiafava and Bignami described 3 alcoholic men who died after having seizures and coma. All 3 patients were chronic alcoholics and had consumed considerable amounts of red wine...
September 2016: Radiology case reports
Wen-Xiong Chen, Hong-Sheng Liu, Si-Da Yang, Si-Hui Zeng, Yuan-Yuan Gao, Zhi-Hong Du, Xiao-Jing Li, Hai-Sheng Lin, Hui-Ci Liang, Jian-Ning Mai
OBJECTIVE: To describe clinical features of reversible splenial lesion syndrome (RESLES) in children. METHODS: Retrospectively analyzed clinical features of RESLES in children and compared differences between severe and non-severe group, classified by clinical global impression-scale; summarized clinical features of children with mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) from case series. RESULTS: 16 episodes of RESLES occurring in 15 Chinese children were analyzed, with 13 episodes having MERS and 3 episodes with epilepsy...
November 2016: Brain & Development
Fumi Kobayashi, Hidetaka Kato, Miki Suzuki, Ryosuke Usui, Minako Koike, Takashi Ohashi
A 23-year-old woman presented with disturbance of consciousness and seizure. Her blood pressure was remarkably high, and brain magnetic resonance imaging (MRI) showed high-intensity T2 signals in the bilateral basal ganglia, corpus callosum, cerebral white matter, and cortex. With the administration of angiotensin II receptor blocker, the symptoms and MRI findings improved, along with normalization of blood pressure, and a diagnosis of posterior reversible leukoencephalopathy syndrome (PRES) was made. Plasma renin activity was high, and the right kidney was severely atrophic...
September 29, 2016: Rinshō Shinkeigaku, Clinical Neurology
Renata Oliveira, Ewen W Sommerville, Kyle Thompson, Joana Nunes, Angela Pyle, Manuela Grazina, Patrick F Chinnery, Luísa Diogo, Paula Garcia, Robert W Taylor
Mitochondrial translation defects are important causes of early onset mitochondrial disease. Although the biochemical (combined respiratory chain deficiency) signature and neuroimaging are usually distinctive, they are not diagnostic as the genetic origin of mitochondrial translation defects is heterogeneous. We report a female child, born at term to non-consanguineous parents, who exhibited global hypotonia, failure to thrive, persistent and progressive hyperlactacidaemia with lactic acidosis, liver dysfunction and encephalopathy and died at the age of 5 months...
August 30, 2016: JIMD Reports
Junji Azuma, Shin Nabatame, Toshiya Katsura, Kyoko Yamamoto, Hiroshi Kaneno, Eri Kijima, Yoshimi Mizoguchi, Tunesuke Shimotsuji, Takehisa Yamamoto, Keiichi Ozono
The magnetic resonance imaging findings of reversible isolated lesions with transiently reduced diffusion in the splenium of corpus callosum of patients with a wide spectrum of pathological conditions are referred to as reversible splenial lesion syndrome (RESLES). Clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is probably included within the spectrum of RESLES; however, its exact pathophysiology is not known. Here, we describe three patients with MERS and one patient with RESLES, all of whom showed elevated urinary β2-microglobulin regardless of diagnosis and presence of pathogens...
September 15, 2016: Journal of the Neurological Sciences
Olcay Ünver, Büşra Kutlubay, Tolga Besci, Gazanfer Ekinci, Feyyaz Baltacıoğlu, Dilşad Türkdoğan
BACKGROUND: Transient splenial lesions of the corpus callosum are rare radiological findings first described in association with epilepsy, antiepileptic drugs and viral encephalitis. However, subsequently more cases were described associated with diverse clinical conditions. CASE REPORT: We describe a 13-year-old girl suffering from migraine with aura presenting with headache, right-sided hemiparesis and encephalopathy. Brain magnetic resonance imaging revealed an ovoid lesion in the splenium of the corpus callosum...
2016: Acta Medica (Hradec Králové)
Ujjawal Roy, Ajay Panwar, Alak Pandit, Susanta Kumar Das, Bhushan Joshi
Metronidazole is an antimicrobial agent mainly used in the treatment of several protozoal and anaerobic infections, additionally, is often used in hepatic encephalopathy and Crohn disease. Apart from peripheral neuropathy, metronidazole can also cause symptoms of central nervous system dysfunction like ataxic gait, dysarthria, seizures, and encephalopathy which may result from both short term and chronic use of this drug and is collectively termed as "metronidazole induced encephalopathy"(MIE). Neuroimaging forms the backbone in clinching the diagnosis of this uncommon entity, especially in cases where there is high index of suspicion of intoxication...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
Mirna Lechpammer, Yen P Tran, Pia Wintermark, Veronica Martínez-Cerdeño, Viswanathan V Krishnan, Waseem Ahmed, Robert F Berman, Frances E Jensen, Evgeny Nudler, David Zagzag
Encephalopathy of prematurity (EOP) is a complex form of cerebral injury that occurs in the setting of hypoxia-ischemia (HI) in premature infants. Using a rat model of EOP, we investigated whether neonatal HI of the brain may alter the expression of cystathionine β-synthase (CBS) and the components of the mammalian target of rapamycin (mTOR) signaling. We performed unilateral carotid ligation and induced HI (UCL/HI) in Long-Evans rats at P6 and found increased CBS expression in white matter (i.e., corpus callosum, cingulum bundle and external capsule) as early as 24 hours (P7) post-procedure...
July 28, 2016: Brain Pathology
Florent Marguet, Hager Barakizou, Abdellah Tebani, Lenaig Abily-Donval, Stéphanie Torre, Fethi Bayoudh, Sami Jebnoun, Marie Brasseur-Daudruy, Stéphane Marret, Annie Laquerriere, Soumeya Bekri
Pyridoxine-dependent epilepsy (PDE) is a pharmacoresistant epileptogenic encephalopathy controlled by pyridoxine supplementation at pharmacological doses. Despite supplementation, the long-term outcome is often poor possibly because of recurrent seizures and developmental structural brain abnormalities. We report on five patients with PDE from three unrelated families. The diagnosis was confirmed by ALDH7A1 sequencing, which allowed for the characterization of two homozygous variations [NM_001182.3:c.1279G > C - p...
July 20, 2016: Metabolic Brain Disease
Fuyong Zhang, Chunli Liu, Linlin Qian, Haifeng Hou, Zhengyi Guo
BACKGROUND This investigation aimed to evaluate changes in apparent diffusion coefficient (ADC) and fractional anisotropy (FA) of white matter injury (WMI) in preterm neonates with hypoxic-ischemic encephalopathy (HIE) using diffusion tension imaging (DTI). MATERIAL AND METHODS Thirty-eight neonates less than 37 weeks of gestation with leukoencephalopathy (as observation group) and 38 full-term infants with no leukoencephalopathy (as control group) were selected from the Neonatal Care Center in Taian Central Hospital from January 2012 to December 2013...
2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Hirofumi Kurata, Hiroshi Terashima, Mitsuko Nakashima, Tetsuya Okazaki, Wataru Matsumura, Koyo Ohno, Yoshiaki Saito, Yoshihiro Maegaki, Masaya Kubota, Eiji Nanba, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato
Mutations in SPATA5 have recently been shown to result in a phenotype of microcephaly, intellectual disability, seizures, and hearing loss in childhood. Our aim in this report is to delineate the SPATA5 syndrome as a clinical entity, including the facial appearance, neurophysiological, and neuroimaging findings. Using whole exome sequencing and Sanger sequencing, we identified three children with SPATA5 mutations from two families. Two siblings carried compound heterozygous mutations, c.989_991del (p.Thr330del) and c...
June 1, 2016: Clinical Genetics
Zhe-Feng Yuan, Jue Shen, Shan-Shan Mao, Yong-Lin Yu, Lu Xu, Pei-Fang Jiang, Feng Gao, Zhe-Zhi Xia
BACKGROUND: Clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinico-radiological syndrome characterized by transient mild symptoms of encephalopathy and a reversible lesion in the splenium of the corpus callosum on magnetic resonance imaging (MRI). It is often triggered by infection. The common pathogens of MERS are viruses, especially influenza virus. However, Mycoplasma pneumoniae (M.pneumoniae) are relatively rare pathogens for MERS. CASE PRESENTATION: Here we report two paediatric cases of M...
2016: BMC Infectious Diseases
Judith Conroy, Nicholas M Allen, Kathleen Gorman, Eoghan O'Halloran, Amre Shahwan, Bryan Lynch, Sally A Lynch, Sean Ennis, Mary D King
SLC1A4 deficiency is a recently described neurodevelopmental disorder associated with microcephaly, global developmental delay, abnormal myelination, thin corpus callosum and seizures. It has been mainly reported in the Ashkenazi-Jewish population with affected individuals homozygous for the p.Glu256Lys variant. Exome sequencing performed in an Irish proband identified a novel homozygous nonsense SLC1A4 variant [p.Trp453*], confirming a second case of SLC1A4-associated infantile spasms. As this is the first European identified, population ancestry analysis of the Exome Aggregation Consortium database was performed to determine the wider ethnic background of SLC1A4 deficiency carriers...
August 2016: Journal of Human Genetics
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