Gammaglobulin therapy in a case of chronic relapsing dysimmune polyneuropathy.

abstract：:We report sibling cases of aromatic L-amino acid decarboxylase (AADC) deficiency, which is a very rare congenital metabolic disorder. These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy....

journal_title：Brain & development

authors： Ide S,Sasaki M,Kato M,Shiihara T,Kinoshita S,Takahashi JY,Goto Y

更新日期：2010-06-01 00:00:00

abstract：PURPOSE:This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. METHODS:Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion te...

journal_title：Brain & development

authors： Zhu J,Xu C,Zhang X,Qiao L,Wang X,Zhang X,Yan X,Ni D,Yu T,Zhang G,Li Y

更新日期：2021-01-01 00:00:00

abstract：:We evaluated the usefulness of intravenous lidocaine therapy for managing of status epilepticus (SE) during childhood in a retrospective multi-institutional study. Questionnaires were sent to 28 hospitals concerning patients admitted for SE who were managed with lidocaine, assessing patient characteristics, treatment ...

journal_title：Brain & development

authors： Hattori H,Yamano T,Hayashi K,Osawa M,Kondo K,Aihara M,Haginoya K,Hamano S,Izumi T,Kaneko K,Kato I,Matsukura M,Minagawa K,Miura T,Ohtsuka Y,Sugai K,Takahashi T,Yamanouchi H,Yamamoto H,Yoshikawa H

更新日期：2008-09-01 00:00:00

abstract：:Two siblings with adenosine deaminase deficiency were successfully treated with allogeneic bone marrow transplantation without conditioning. Although the patients were free from infections after immunologic reconstitution, both showed sensorineural deafness at 1 year of age. Because there were no structural abnormalit...

journal_title：Brain & development

authors： Tanaka C,Hara T,Suzaki I,Maegaki Y,Takeshita K

更新日期：1996-07-01 00:00:00

abstract：:The aim of this research was to compare the Strengths and Difficulties Questionnaire (SDQ) scores and subscale scores in children with high-functioning autism spectrum disorder (HFASD) and attention-deficit/hyperactivity disorder (AD/HD), and also to clarify the differences between parent- and teacher-assessed SDQ sco...

journal_title：Brain & development

authors： Iizuka C,Yamashita Y,Nagamitsu S,Yamashita T,Araki Y,Ohya T,Hara M,Shibuya I,Kakuma T,Matsuishi T

更新日期：2010-09-01 00:00:00

abstract：:A 10-year-old male patient, who had suffered from intractable convulsions from the neonatal period, is presented. Serial brain images suggested slow, gradual destruction of neural elements. Human cytomegalovirus (HCMV) DNA was detected in his cerebrospinal fluid (CSF) by means of the polymerase chain reaction. Intrath...

journal_title：Brain & development

authors： Kohyama J,Suzuki N,Kajiwara M,Shimohira M,Iwakawa Y

更新日期：1993-11-01 00:00:00

abstract：:Severe myoclonic epilepsy in infancy (SMEI) is an age-dependent epileptic encephalopathy occurring in the first year of life and is one of the intractable epilepsies. Heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (SCN1A) are frequently identified in patients with SMEI; two-thirds ...

journal_title：Brain & development

authors： Kimura K,Sugawara T,Mazaki-Miyazaki E,Hoshino K,Nomura Y,Tateno A,Hachimori K,Yamakawa K,Segawa M

更新日期：2005-09-01 00:00:00

abstract：:The autopsy report of the juvenile type of metachromatic leukodystrophy is rare. The clinical and pathological difference between the juvenile and the late infantile type of metachromatic leukodystrophy was described. Loss of myelin sheaths was much less in the brain stem and spinal cord in the juvenile type than in t...

journal_title：Brain & development

authors： Takashima S,Matsui A,Fujii Y,Nakamura H

更新日期：1981-01-01 00:00:00

abstract：:154 patients with a mean age of 6 years 1 month were followed on valproate monotherapy for a period ranging from 5 to 27 months (mean 22 months). Absence epilepsies, benign myoclonic epilepsies and epilepsies with tonic-clonic seizures on awakening were the best controlled, followed by benign partial epilepsies and in...

journal_title：Brain & development

authors： Dulac O,Steru D,Rey E,Perret A,Arthuis M

更新日期：1986-01-01 00:00:00

abstract：:Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signature...

journal_title：Brain & development

authors： Papetti L,Parisi P,Leuzzi V,Nardecchia F,Nicita F,Ursitti F,Marra F,Paolino MC,Spalice A

更新日期：2013-10-01 00:00:00

abstract：AIM:To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. CASE REPORT:Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developm...

journal_title：Brain & development

authors： Yamamoto A,Saito Y,Oyama Y,Watanabe Y,Ikeda A,Takayama R,Ikeda H,Takeshita S,Takumi I,Itai T,Miyatake S,Matsumoto N

更新日期：2020-09-01 00:00:00

abstract：:Neuroimaging findings are usually normal in children with benign partial epilepsy in infancy. However, we found a transient reduction of water diffusion in the corpus callosum in two patients with probable benign partial epilepsy in infancy. The patients were admitted to our hospital because of seizure clusters. No de...

journal_title：Brain & development

authors： Okumura A,Abe S,Hara S,Aoyagi Y,Shimizu T,Watanabe K

更新日期：2010-08-01 00:00:00

abstract：:Mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. Dystonia has rarely been described in ataxia with isolated vitamin E deficiency (AVED) patients. We present the case of a young boy wit...

journal_title：Brain & development

authors： Roubertie A,Biolsi B,Rivier F,Humbertclaude V,Cheminal R,Echenne B

更新日期：2003-09-01 00:00:00

abstract：:A 2-month-old Japanese girl exhibited tonic seizure, agenesis of the corpus callosum, lacunar chorioretinopathy, vertebral anomalies, electroencephalographic abnormalities and a malignant tumor. Autopsy revealed a hepatoblastoma and severe brain malformations consisting of callosal agenesis, arhinencephaly, marked pol...

journal_title：Brain & development

authors： Tanaka T,Takakura H,Takashima S,Kodama T,Hasegawa H

更新日期：1985-01-01 00:00:00

abstract：:Hypoxia-inducible transcription factors (HIF)-1 and HIF-2, composed of an oxygen-dependent alpha-subunit and a constitutive beta-subunit, have been characterized as the most important regulators of oxygen homeostasis during physiological and pathological conditions. During embryonic, fetal and postnatal brain developm...

journal_title：Brain & development

authors： Trollmann R,Gassmann M

更新日期：2009-08-01 00:00:00

abstract：:Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the p...

journal_title：Brain & development

authors： Cash SJ,Mcgue BP,Reynolds TS,Crist ER

更新日期：2020-02-01 00:00:00

abstract：:The British Isles Survey for Rett has registered 1,159 cases over up to 20 years. Indicators of health and severity, recorded at intervals throughout life, are drawn from clinical examinations, reports and postal questionnaires. This study aimed to establish the stability and predictive value of an early severity scor...

journal_title：Brain & development

authors： Kerr AM,Prescott RJ

更新日期：2005-11-01 00:00:00

abstract：:Eight patients who satisfied the following three criteria: 1) autistic behavior, 2) mental retardation and 3) stereotypic hand movements were evaluated. Four patients fulfilled the diagnostic criteria for the Rett syndrome developed by representatives of the International Rett Syndrome Association and the Center for D...

journal_title：Brain & development

authors： Lin MY,Wang PJ,Lin LH,Shen YZ

更新日期：1991-07-01 00:00:00

abstract：:Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical man...

journal_title：Brain & development

authors： Arslan M,Vurucu S,Balamtekin N,Unay B,Akin R,Kurt I,Ozcan O

更新日期：2009-06-01 00:00:00

abstract：:Two cases of status epilepticus are reported, whose seizures responded well to the injection of flunitrazepam. One patient had generalized tonic clonic seizures and the other had partial seizures. The improvement of their condition was confirmed by both clinical and electroencephalographic examinations. There were no ...

journal_title：Brain & development

authors： Ono J,Mimaki T,Tagawa T,Tanaka J

更新日期：1988-01-01 00:00:00

abstract：:We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance im...

journal_title：Brain & development

authors： Hino-Fukuyo N,Kikuchi A,Iwasaki M,Sato Y,Kubota Y,Kobayashi T,Nakayama T,Haginoya K,Arai-Ichinoi N,Niihori T,Sato R,Suzuki T,Kudo H,Funayama R,Nakayama K,Aoki Y,Kure S

更新日期：2017-04-01 00:00:00

abstract：OBJECTIVE:We retrospectively reviewed six patients with incontinentia pigmenti (IP) who had encephalopathic manifestations during early infancy. METHODS:We enrolled six patients who met the following criteria from the mailing list of the Annual Zao Conference: (1) diagnosis of IP; (2) encephalopathic manifestations wi...

journal_title：Brain & development

authors： Abe S,Okumura A,Hamano S,Tanaka M,Shiihara T,Aizaki K,Tsuru T,Toribe Y,Arai H,Shimizu T

更新日期：2011-01-01 00:00:00

abstract：:We performed screening of beta-galactosidase-deficient fibroblasts for possible chemical chaperone therapy using N-octyl-4-epi-beta-valienamine (NOEV) in patients with GM1-gangliosidosis and Morquio B disease (beta-galactosidosis). Fibroblasts were cultured with NOEV for 4 days and beta-galactosidase activity was meas...

journal_title：Brain & development

authors： Iwasaki H,Watanabe H,Iida M,Ogawa S,Tabe M,Higaki K,Nanba E,Suzuki Y

更新日期：2006-09-01 00:00:00

abstract：:MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a ...

journal_title：Brain & development

authors： Yokota K,Sano K,Murofushi Y,Yoshimaru D,Takanashi JI

更新日期：2018-11-01 00:00:00

abstract：:Tourette syndrome (TS) is a neurodevelopmental disorder defined by tics, but most patients also experience bothersome sensory phenomena, in the form of premonitory urges and/or sensory hypersensitivity. Whereas premonitory urges are temporally paired with tics, sensory hypersensitivity is a constant, heightened awaren...

journal_title：Brain & development

authors： Isaacs D,Riordan H

更新日期：2020-10-01 00:00:00

abstract：BACKGROUND:Amplitude-integrated electroencephalogram (aEEG) at <6 h is the best single outcome predictor in term infants with perinatal asphyxia at normothermia. Hypothermia treatment has changed the cutoff values for outcome prediction by using time at onset of normal trace and SWC. Cerebral hemodynamics and oxygenati...

journal_title：Brain & development

authors： Gucuyener K,Beken S,Ergenekon E,Soysal S,Hirfanoglu I,Turan O,Unal S,Altuntas N,Kazanci E,Kulali F,Koc E,Turkyilmaz C,Onal E,Atalay Y

更新日期：2012-04-01 00:00:00

abstract：:A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fib...

journal_title：Brain & development

authors： Okada S,Kato T,Tanaka H,Takada K,Aramitsu Y

更新日期：1988-01-01 00:00:00

abstract：:We describe two brothers with isolated Dandy-Walker malformation (DWM). Interestingly, brain stem dysgenesis and abnormal gyral pattern were also observed in the sibs. They presented with psychomotor retardation and macrocrania. Both suffered from hypotonia with brisk deep tendon reflexes and ataxic gait. They had bil...

journal_title：Brain & development

authors： Abdel-Salam GM,Shehab M,Zaki MS

更新日期：2006-09-01 00:00:00

abstract：:The number of large myelinated axons was markedly decreased in almost all the intramuscular nerve bundles included in 32 muscle biopsies from patients with Werdnig-Hoffmann disease compared to that in normals. The morphometric analysis of peripheral nerves in 5 epon-embedded sections also showed a selective loss of la...

journal_title：Brain & development

authors： Chien YY,Nonaka I

更新日期：1989-01-01 00:00:00

abstract：:Oral motor patterns during feeding were investigated in 58 patients with severe physical disability. Five patients showed a pattern resembling sucking. Twenty-nine exhibited an up-and-down movement of the jaw and protrusion of the tongue. Among these, the mouth opened when the food entered and the lips closed before s...

journal_title：Brain & development

authors： Yokochi K

更新日期：1997-12-01 00:00:00