journal
MENU ▼
Read by QxMD icon Read
search

Brain & Development

journal
https://www.readbyqxmd.com/read/30414707/an-acute-encephalopathy-with-reduced-diffusion-in-braf-associated-cardio-facio-cutaneous-syndrome
#1
Sayaka Okuzono, Ryoko Fukai, Marie Noda, Noriko Miyake, Sooyoung Lee, Noriyuki Kaku, Masafumi Sanefuji, Satoshi Akamine, Shunsuke Kanno, Yoshito Ishizaki, Hiroyuki Torisu, Ryutaro Kira, Naomichi Matsumoto, Yasunari Sakai, Shouichi Ohga
BACKGROUND: Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS. While this molecular pathway is known to be associated with neuro-inflammatory conditions, only one case with CFCS has been reported thus far to develop acute encephalopathy in childhood. CASE REPORT: A 3-year-old boy with dysmorphic features and mild psychomotor delay developed acute encephalopathy...
November 7, 2018: Brain & Development
https://www.readbyqxmd.com/read/30392841/a-case-of-early-onset-life-threatening-epilepsy-associated-with-a-novel-atp1a3-gene-variant
#2
Naoko Ishihara, Hidehito Inagaki, Misa Miyake, Yoshiki Kawamura, Tetsushi Yoshikawa, Hiroki Kurahashi
INTRODUCTION: Mutations of the ATP1A3 gene are associated with a wide spectrum of neurological disorders including rapid onset dystonia-parkinsonism and alternating hemiplegia of childhood (AHC). The genotype-phenotype correlations in these cases remain unclear however. We here report a pediatric case of catastrophic early life epilepsy, respiratory failure, postnatal microcephaly, and severe developmental disability associated with a novel heterozygous ATP1A3 mutation. SUBJECT: A boy with a normal birth to nonconsanguineous parents was transferred to the NICU due to postnatal respiratory failure at 2 days...
November 1, 2018: Brain & Development
https://www.readbyqxmd.com/read/30389271/correlation-between-human-nervous-system-development-and-acquisition-of-fetal-skills-an-overview
#3
REVIEW
Elisa Borsani, Anna Maria Della Vedova, Rita Rezzani, Luigi Fabrizio Rodella, Carlo Cristini
Understanding the association between fetal nervous system structure and functioning should be an important goal in neurodevelopmental sciences, especially when considering the emerging knowledge regarding the importance of prenatal onset. Intrauterine development of the human central nervous system consists of specific processes: neurogenesis, neuronal migration, synaptogenesis, and myelination. However, as extensively shown by the neurobehavioral studies in the last century, the development of the central nervous system involves both structure and functioning...
October 31, 2018: Brain & Development
https://www.readbyqxmd.com/read/30389272/neonatal-methionine-adenosyltransferase-i-iii-deficiency-with-abnormal-signal-intensity-in-the-central-tegmental-tract
#4
Jun Kido, Takaaki Sawada, Ken Momosaki, Yosuke Suzuki, Hiroyuki Uetani, Mika Kitajima, Hiroshi Mitsubuchi, Kimitoshi Nakamura, Shirou Matsumoto
Methionine adenosyltransferase I/III (MAT I/III) deficiency is characterized by persistent hypermethioninemia. The clinical manifestations in cases with MAT I/III deficiency vary from a complete lack of symptoms to neurological problems associated with brain demyelination. We experienced a neonatal case with MAT I/III deficiency, in which severe hypermethioninemia was detected during the newborn screening test. The patient gradually showed hyperreflexia, foot clonus, and irritability from the age of 1 month onwards, and his brain magnetic resonance imaging scans showed abnormal signal intensity in the bilateral central tegmental tracts...
October 30, 2018: Brain & Development
https://www.readbyqxmd.com/read/30384990/a-case-of-dihydropyrimidinase-deficiency-incidentally-detected-by-urine-metabolome-analysis
#5
Hiroki Tsuchiya, Tomoyuki Akiyama, Tomiko Kuhara, Yoko Nakajima, Morimasa Ohse, Hiroki Kurahashi, Takema Kato, Yasuhiro Maeda, Harumi Yoshinaga, Katsuhiro Kobayashi
Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. It is caused by mutations in the DPYS gene. Only approximately 30 cases have been reported to date, with a phenotypical variability ranging from asymptomatic to severe neurological illness. We report a case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis. Gas chromatography-mass spectrometry-based urine metabolomics demonstrated significant elevations of dihydrouracil and dihydrothymine, which were subsequently confirmed by a quantitative analysis using liquid chromatography-tandem mass spectrometry...
October 29, 2018: Brain & Development
https://www.readbyqxmd.com/read/30384989/reversible-splenial-lesion-syndrome-in-children-with-benign-convulsions-associated-with-mild-gastroenteritis-a-retrospective-study-of-five-cases
#6
Lihua Jiang, Shanshan Mao, Jialu Xu, Feng Gao
OBJECTIVE: To assess the clinical and imaging features of reversible splenial lesion syndrome (RESLES) with benign convulsions associated with mild gastroenteritis (CwG) in children. PATIENTS AND METHODS: We retrospectively reviewed the clinical course, blood and stool examinations, cerebrospinal fluid (CSF) examination, magnetic resonance imaging (MRI), electroencephalography (EEG) findings, therapy and prognosis of five children with RESLES associated with CwG...
October 29, 2018: Brain & Development
https://www.readbyqxmd.com/read/30381136/severe-anti-gad-antibody-associated-encephalitis-after-stem-cell-transplantation
#7
Koki Nagai, Takanobu Maekawa, Hiroshi Terashima, Masaya Kubota, Akira Ishiguro
BACKGROUND: General features of anti-glutamic acid decarboxylase (GAD) antibody-associated limbic encephalitis are seizures, cognitive impairment, and imaging findings at the medial temporal lobes. We report a patient affected with remarkably severe anti-GAD antibody-positive encephalitis after hematopoietic stem cell transplantation (HSCT). CASE REPORT: A 5-year-old girl received HSCT due to pineoblastoma. Thirteen months after HSCT, she showed seizure clustering and altered mental status...
October 28, 2018: Brain & Development
https://www.readbyqxmd.com/read/30366747/concentrations-of-various-forms-of-vitamin-b-6-in-ginkgo-seed-poisoning
#8
Tomomitsu Sado, Setsuko Nakata, Takahisa Tsuno, Masanori Sato, Yuka Misawa, Shoko Yamauchi, Yuji Inaba, Daisuke Kobayashi, Keiji Wada
A 2-year-old girl required medical attention for a sudden onset of repetitive tonic-clonic convulsions after ingesting 20-30 ginkgo seeds. Concentrations of the major forms of circulating vitamin B6 , pyridoxal-5'-phosphate (PLP), pyridoxal (PL), and 4-pyridoxic acid, as well as the known ginkgo seed toxin 4'-O-methylpyridoxine (MPN) were measured in the serum and cerebrospinal fluid (CSF). PLP is an active form of vitamin B6 and necessary for γ-aminobutyric acid (GABA) production. High MPN concentrations were observed in both the serum and CSF...
October 23, 2018: Brain & Development
https://www.readbyqxmd.com/read/30352709/restless-legs-syndrome-in-nkx2-1-related-chorea-an-expansion-of-the-disease-spectrum
#9
A Iodice, M Carecchio, G Zorzi, B Garavaglia, C Spagnoli, G G Salerno, D Frattini, N E Mencacci, F Invernizzi, L Veneziano, E Mantuano, M Angriman, C Fusco
BACKGROUND: Molecular technologies are expanding our knowledge about genetic variability underlying early-onset non-progressive choreic syndromes. Focusing on NKX2-1-related chorea, the clinical phenotype and sleep related disorders have been only partially characterized. METHODS: We propose a retrospective and longitudinal observational study in 7 patients with non-progressive chorea due to NKX2-1 mutations. In all subjects sleep and awake EEG, brain MRI with study of pituitary gland, chest X-rays, endocrinological investigations were performed...
October 20, 2018: Brain & Development
https://www.readbyqxmd.com/read/30342800/the-association-of-epileptic-focus-estimated-by-magnetoencephalography-with-cognitive-function-in-non-lesional-epilepsy-with-continuous-spikes-and-waves-during-slow-wave-sleep-ecsws-children
#10
Shinichi Magara, Takao Komatsubara, Moemi Hojo, Yu Kobayashi, Mihoko Yoshino, Akihiko Saitoh, Jun Tohyama
OBJECTIVE: Epilepsy with continuous spikes and waves during slow sleep (ECSWS) is associated with cognitive deficits. The underlying mechanism is thought to relate to disturbance of functions of the foci by the persistent epileptic activity. However, the relationship between epileptic foci and cognitive deficits remains largely unknown, except for in Landau-Kleffner syndrome. The aim of this study was to evaluate the relationship of epileptic foci estimated from magnetoencephalography (MEG) with cognitive functions at the period of diagnosis in non-lesional ECSWS children, excluding those with Landau-Kleffner syndrome...
October 17, 2018: Brain & Development
https://www.readbyqxmd.com/read/30327157/acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion-accompanied-by-takotsubo-cardiomyopathy
#11
Hiroshi Yamaguchi, Hiroaki Nagase, Shinobu Yoshida, Shoichi Tokumoto, Ken Hayashi, Daisaku Toyoshima, Hiroshi Kurosawa, Toshikatsu Tanaka, Azusa Maruyama, Kazumoto Iijima
BACKGROUND: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is characterized by biphasic seizures and impaired consciousness. Takotsubo cardiomyopathy (TTC), which is typically triggered by psychological or physical stress, is characterized by transient myocardial dysfunction affecting the left ventricular apex. Recent reports have suggested that seizures can also trigger TTC. However, no cases of TTC accompanied by AESD have been reported. PATIENT: A previously healthy 4-year-old girl was brought to a hospital with first-time febrile generalized tonic-clonic convulsions, which lasted approximately 40 min...
October 13, 2018: Brain & Development
https://www.readbyqxmd.com/read/30314874/successful-corpus-callosotomy-for-post-encephalopathic-refractory-epilepsy-in-a-patient-with-mecp2-duplication-syndrome
#12
Sotaro Kanai, Tohru Okanishi, Ayataka Fujimoto, Shinji Itamura, Shimpei Baba, Mitsuyo Nishimura, Kazuya Itomi, Hideo Enoki
BACKGROUND: Patients with MECP2 duplication syndrome present with distinct facial anomalies and clinical features such as global developmental delay, recurrent respiratory infections, and epileptic seizures. Approximately half of all patients develop epileptic seizures which are refractory in most cases despite active medical management. Furthermore, no previous reports have discussed the efficacy of surgical treatment for seizures in patients with MECP2 duplication syndrome. CASE REPORT: In the present report, we describe a case of MECP2 duplication syndrome in a 15-year-old boy who developed epileptic seizures following influenza-associated acute encephalitis...
October 9, 2018: Brain & Development
https://www.readbyqxmd.com/read/30314873/facial-nerve-palsy-associated-with-atomoxetine-induced-hypertension
#13
Hironobu Kobayashi, Katsunori Fujii, Masayo Kobayashi, Naoki Saito, Kentaro Okunushi, Ryota Ebata, Tadashi Shiohama, Daisuke Sawada, Naoki Shimojo
BACKGROUND: Peripheral facial nerve palsy is characterized by unilateral facial paresis due to ipsilateral facial nerve dysfunction. Most cases are idiopathic; however, some have specific etiologies, such as herpesvirus infection, immunological disorders, and hypertension. Atomoxetine is a norepinephrine reuptake inhibitor that is used in the treatment of attention deficit hyperactivity disorder (ADHD). This drug is known to cause adverse effects, such as nausea, appetite loss, headache, insomnia, and hypertension...
October 9, 2018: Brain & Development
https://www.readbyqxmd.com/read/30301590/genetic-analysis-of-undiagnosed-ataxia-telangiectasia-like-disorders
#14
Ayako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, Hiroshi Shiraku, Kengo Moriyama, Tomonori Suzuki, Keisuke Nakajima, Tomoko Mizuno, Kohsuke Imai, Yuji Sugawara, Tomohiro Morio, Satoko Kumada, Masatoshi Takagi
OBJECTIVES: Defects in DNA damage responses or repair mechanisms cause numerous rare inherited diseases, referred to as "DNA-repair defects" or "DNA damage deficiency", characterized by neurodegeneration, immunodeficiency, and/or cancer predisposition. Early accurate diagnosis is important for informing appropriate clinical management; however, diagnosis is frequently challenging and can be delayed, due to phenotypic heterogeneity. Comprehensive genomic analysis could overcome this disadvantage...
October 6, 2018: Brain & Development
https://www.readbyqxmd.com/read/30301589/combining-visual-sensory-functions-and-visuospatial-orienting-functions-in-children-with-visual-pathology-a-longitudinal-study
#15
Marlou J G Kooiker, Hélène J M Verbunt, Johannes van der Steen, Johan J M Pel
BACKGROUND: Peripheral and central visual processing development highly depends on the integrity of the visual sensory system and the allocation of visuospatial attention. METHOD: We quantitatively followed visual sensory functions (VSF) and visuospatial orienting functions (VOF) over two years in 77 children (1-13 years) with different types of visual pathology. RESULTS: Within the clinical groups, VSF were relatively constant over two years, except visual acuity, and VOF were characterized by longer reaction time, shorter fixation duration, and lower fixation accuracy than normal for their age...
October 6, 2018: Brain & Development
https://www.readbyqxmd.com/read/30279081/transient-extreme-spindles-in-a-young-child-with-anti-nmdar-encephalitis-a-case-report
#16
Sachi Tokunaga, Minako Ide, Takehiro Ishihara, Takako Matsumoto, Toshiro Maihara, Takeo Kato
Anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis is a type of immune-mediated encephalitis, which is a new category of treatment-responsive paraneoplastic encephalitis. In patients with this disease, electroencephalography (EEG) shows non-specific findings, but recently, a unique EEG pattern, named the extreme delta brush, was detected in 40% of adult patients and was suggested to be specific to this type of encephalitis. Here, we describe a two-year-old boy with anti-NMDAR encephalitis, who presented with speech arrest and disturbances of gait and cognition several weeks after developing febrile convulsions...
September 29, 2018: Brain & Development
https://www.readbyqxmd.com/read/30266219/reading-disability-due-to-an-ocular-motor-disorder-a-case-of-an-adolescent-girl-with-a-previous-diagnosis-of-dyslexia
#17
Tsunehiko Kurokami, Tatsuya Koeda, Ohsuke Migita, Kenichiro Hata
Dyslexia is a reading disability characterized by difficulties with accurate and/or fluent word recognition, which are thought to stem from a phonological processing impairment. Herein we report the case of a 13-year-old girl who received the diagnosis of dyslexia at age 12 years. We considered this diagnosis to be incorrect because her reading difficulty was caused by a spontaneously repeated eye movement toward the vertical direction; the eyes were likely to show slow, upward drifts followed by quick downward movement at the physical examination, and the amplitude of the downward movement was increased when she changed eye positions to look at the upper direction in the evaluation of the eye tracker...
September 25, 2018: Brain & Development
https://www.readbyqxmd.com/read/30253902/reply-to-avoid-valproate-in-iars2-mutations
#18
LETTER
Yusuke Takezawa, Hiromi Fujie, Atsuo Kikuchi, Shigeo Kure
No abstract text is available yet for this article.
September 22, 2018: Brain & Development
https://www.readbyqxmd.com/read/30224162/transient-posterior-cerebral-arteriopathy-an-unusual-case-enterovirus-related
#19
Benedetta Piccolo, Marina Barsacchi, Francesca Greco, Davide Cerasti, Francesca Ormitti, Francesco Pisani
Transient Cerebral Arteriopathy (TCA) is one of the main causes of childhood stroke. Here we present an unusual case of Arterial Ischemic Stroke (AIS) caused by a TCA of posterior flow and originally located in the right thalamus. The detection of enterovirus in the cerebrospinal fluid allowed us to suppose a probable post infectious etiology. The course of symptoms was self-limited and the child had a complete clinical recovery after five days. A new ischemic lesion on the antero-inferior paravermian region of the left cerebellum was revealed by a following brain Magnetic Resonance Imaging (MRI) three months later and these findings were reported by further brain MRI control performed after 15 months...
September 14, 2018: Brain & Development
https://www.readbyqxmd.com/read/30217666/behavioral-profiles-in-rett-syndrome-data-from-the-natural-history-study
#20
Caroline B Buchanan, Jennifer L Stallworth, Alexandra E Scott, Daniel G Glaze, Jane B Lane, Steven A Skinner, Aubin E Tierney, Alan K Percy, Jeffrey L Neul, Walter E Kaufmann
INTRODUCTION: Rett syndrome (RTT) is a complex neurodevelopmental disorder with known behavioral abnormalities, both internalizing (e.g., anxiety, social withdrawal) and externalizing (e.g., aggression, self-abuse). However, a broad evaluation of behavioral abnormalities in a large cohort is lacking. OBJECTIVE: In this report, we describe profiles of internalizing and externalizing behaviors in individuals evaluated in the multi-center U.S. Rett Natural History Study...
September 11, 2018: Brain & Development
journal
journal
27751
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"