A case of acute cerebellar ataxia with an MRI abnormality.

abstract：:Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...

journal_title：Brain & development

authors： Nozaki F,Kusunoki T,Okamoto N,Yamamoto Y,Miya F,Tsunoda T,Kosaki K,Kumada T,Shibata M,Fujii T

更新日期：2016-08-01 00:00:00

abstract：:This is the first study to report differences between Japanese children with and without dyslexia in the way string-length and lexicality effects are manifested when reading Japanese kana. These children were asked to read kana words and non-words consisting of either two or five kana characters. The results showed th...

journal_title：Brain & development

authors： Sambai A,Uno A,Kurokawa S,Haruhara N,Kaneko M,Awaya N,Kozuka J,Goto T,Tsutamori E,Nakagawa K,Wydell TN

更新日期：2012-06-01 00:00:00

abstract：:The relationship between febrile seizures and hippocampal sclerosis has been the subject of longstanding discussion. Animal models for prolonged seizures have shown a clear causal relationship with focal limbic features at low dose and hippocampal damage at high dose. Careful history taking of febrile seizure semiolog...

journal_title：Brain & development

authors： Neville BG,Gindner D

更新日期：2010-01-01 00:00:00

abstract：OBJECTIVE:Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurologica...

journal_title：Brain & development

authors： Giacobbe A,Ajmone PF,Milani D,Avignone S,Triulzi F,Gervasini C,Menni F,Monti F,Biffi D,Canavesi K,Costantino MA

更新日期：2016-06-01 00:00:00

abstract：:Magnetic resonance (MR) findings in cases of total asphyxia, whose lesions are mainly in the brainstem and deep nuclei, have not been clarified. In this study, we investigated MR images in neonates with total asphyxia. MR images of six infants (three males and three females; gestational age, 35-39 weeks; birth weights...

journal_title：Brain & development

authors： Sugiura H,Kouwaki M,Kato T,Ogata T,Sakamoto R,Ieshima A,Yokochi K

更新日期：2013-01-01 00:00:00

abstract：:The development of the human inferior collicular nucleus was studied on serial sections of the brains of 9 fetuses at 12-34 weeks of gestation and an adult of 63 years using an electronic planimeter with a computer. Morphometric analysis of the development of the inferior collicular nucleus showed that its development...

journal_title：Brain & development

authors： Nara T,Goto N,Hamano S,Okada A

更新日期：1996-01-01 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：AIM:To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan. SUBJECTS:A 1-year-old boy who had consumed 1l of isotonic drinks per day for 4 months after an episode of diarrhea, and presented with ocular movement disorder, dy...

journal_title：Brain & development

authors： Saeki K,Saito Y,Komaki H,Sakakibra T,Nakagawa E,Sugai K,Sakuma H,Sasaki M,Honda T,Hayashi H,Katori N,Miyahara Y

更新日期：2010-08-01 00:00:00

abstract：:A 2-yr-3-mo-old girl with metachromatic leukodystrophy (MLD) was examined using serial multiple electrophysiological procedures. Sensory nerve conduction velocity was delayed earlier and more severely than motor nerve conduction velocity. Visual evoked potentials (VEPs) showed prolonged latency of wave IV. Auditory br...

journal_title：Brain & development

authors： Takakura H,Nakano C,Kasagi S,Takashima S,Takeshita K

更新日期：1985-01-01 00:00:00

abstract：:Angelman syndrome (AS) is a genetic disorder with characteristic clinical and EEG findings. We report here the results of long-term follow-up studies on the epileptic seizures and EEG findings of 23 cases of deletion type AS confirmed by FISH analysis, including seven cases previously reported by Matsumoto et al. in 1...

journal_title：Brain & development

authors： Uemura N,Matsumoto A,Nakamura M,Watanabe K,Negoro T,Kumagai T,Miura K,Ohki T,Mizuno S,Okumura A,Aso K,Hayakawa F,Kondo Y

更新日期：2005-08-01 00:00:00

abstract：BACKGROUND:Children with epilepsy often show some degree of cognitive impairment. In this study, we investigated their learning skills to clarify the characteristics of the difficulties related to learning in Japanese-speaking children with focal epilepsy. METHODS:The study included 13 boys and 17 girls of mean age 9....

journal_title：Brain & development

authors： Miyazaki M,Tanaka T,Adachi Y,Miya K

更新日期：2020-10-01 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：: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：BACKGROUND:Few studies have targeted psychomotor development and associated perinatal risk factors in Japanese very low birth weight (VLBW) infants who are severely small for gestational age (SGA). DESIGN/SUBJECTS:A single-center study was conducted in 104 Japanese VLBW infants who were born preterm, due to maternal, ...

journal_title：Brain & development

authors： Kato T,Mandai T,Iwatani S,Koda T,Nagasaka M,Fujita K,Kurokawa D,Yamana K,Nishida K,Taniguchi-Ikeda M,Tanimura K,Deguchi M,Yamada H,Iijima K,Morioka I

更新日期：2016-02-01 00:00:00

abstract：:The efficacy, serum concentration and side effects of CBZ for partial seizures in children were evaluated. The study was undertaken on 27 patients with partial seizures ranging from 5 to 17 years of age. Further 15 patients with various types of epilepsy taking CBZ with other anticonvulsants were selected as controls ...

journal_title：Brain & development

authors： Sato H,Doi M,Okuno T

更新日期：1979-01-01 00:00:00

abstract：:Hypoxic ischemic brain can result in cerebral palsy, mental retardation, and learning disabilities in surviving children. The purpose of this study was to elucidate the cerebral blood flow volume in infants complicated with brain damage after the birth. Nine term infants with hypoxic ischemic encephalopathy and 41 nor...

journal_title：Brain & development

authors： Fukuda S,Mizuno K,Kawai S,Kakita H,Goto T,Hussein MH,Daoud GA,Ito T,Kato I,Suzuki S,Togari H

更新日期：2008-04-01 00:00:00

abstract：INTRODUCTION:Primary pseudotumor cerebri (PTC) in childhood is a rare but important differential diagnosis in children presenting with papilledema. It is defined as elevated cerebrospinal fluid (CSF) pressure of more than 20 cm H(2)O, normal CSF composition, and exclusion of underlying structural or systemic causes. Vi...

journal_title：Brain & development

authors： Distelmaier F,Sengler U,Messing-Juenger M,Assmann B,Mayatepek E,Rosenbaum T

更新日期：2006-04-01 00:00:00

abstract：:Eye and brain involvement in congenital muscular dystrophies (CMD) constitute a distinct group with a spectrum of brain malformations. We report two such CMD patients among our series of 58 cases with CMD. Despite known clinical and neuroradiological overlap, we tend to classify them into specific syndromes, though th...

journal_title：Brain & development

authors： Topaloğlu H,Cila A,Taşdemir AH,Saatçi I

更新日期：1995-07-01 00:00:00

abstract：BACKGROUND:Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit...

journal_title：Brain & development

authors： Fukazawa M,Tezuka J,Sasazuki M,Masumoto N,Baba H,Doi T,Tsutsumi Y,Mizuno Y,Mihara F,Nakayama H

更新日期：2018-02-01 00:00:00

abstract：:Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more i...

journal_title：Brain & development

authors： Castro-Gago M,Dacruz-Alvarez D,Pintos-Martínez E,Beiras-Iglesias A,Arenas J,Martín MÁ,Martínez-Azorín F

更新日期：2016-01-01 00:00:00

abstract：:A neurologic and neuropsychologic test battery was administered to a sample of 35 children drawn from all those in a defined geographic area who had been hospitalized for head trauma before age 7 during the years 1970-1976. Examination was performed 3 1/2 to 10 years after injury, at age 6-15. Twelve subjects had been...

journal_title：Brain & development

authors： Costeff H,Abraham E,Brenner T,Horowitz I,Apter N,Sadan N,Najenson T

更新日期：1988-01-01 00:00:00

abstract：BACKGROUND:Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding. Few studies have examined the correlation between each risk factor and carn...

journal_title：Brain & development

authors： Fukuda M,Kawabe M,Takehara M,Iwano S,Kuwabara K,Kikuchi C,Wakamoto H,Morimoto T,Suzuki Y,Ishii E

更新日期：2015-09-01 00:00:00

abstract：:The neuropathological characteristics and alteration of the dopamine D2 receptor (D2R) were investigated in 27 cases of hypoxic-ischemic basal ganglia necrosis (BGN) by means of neuropathological and immunohistochemical methods. Perinatal hypoxic-ischemic BGN manifested neuronal karyorrhexis as well as eosinophilia, k...

journal_title：Brain & development

authors： Meng SZ,Isumi H,Takashima S

更新日期：1998-03-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to develop and introduce new method to quantify motor functions of the upper extremity. METHODS:The movement was recorded using a three-dimensional motion capture system, and the movement trajectory was analyzed using newly developed two indices, which measure precise repeatability ...

journal_title：Brain & development

authors： Matsumaru N,Hattori R,Ichinomiya T,Tsukamoto K,Kato Z

更新日期：2018-03-01 00:00:00

abstract：:In the past decade research on childhood epilepsy in our country has progressed in a step-by-step fashion. At first clinical experiences of the diagnosis and treatment of childhood epilepsy and febrile convulsions as to the results of follow-up studies were published. These have helped to overcome the barriers of trad...

journal_title：Brain & development

authors： Zuo CH

更新日期：1988-01-01 00:00:00

abstract：:CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by variants in CLCN2. We report a boy whose brain MRI during an episode of aseptic meningitis at the age of 6 years revealed wide areas of restriction on diffusion-weighted images (DWI) in the cerebral subcortical white matter calle...

journal_title：Brain & development

authors： Ozaki A,Sasaki M,Hiraide T,Sumitomo N,Takeshita E,Shimizu-Motohashi Y,Ishiyama A,Saito T,Komaki H,Nakagawa E,Sato N,Nakashima M,Saitsu H

更新日期：2020-06-01 00:00:00

abstract：:Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of a...

journal_title：Brain & development

authors： Ko JM,Kim WJ,Kim SY,Lee JH,Chae JH,Kim KJ,Lim BC

更新日期：2019-08-01 00:00:00

abstract：:713 children (from newborn to 12-month-old) with delayed motor development were carefully examined and classified into normal, very light cerebral coordination disturbance (CCD, Vojta), light CCD, moderate CCD, severe CCD, suspected cerebral palsy (CP) and other diseases at their first visit, and were followed up care...

journal_title：Brain & development

authors： Imamura S,Sakuma K,Takahashi T

更新日期：1983-01-01 00:00:00

abstract：:We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35Mb on chromosome 11p1...

journal_title：Brain & development

authors： Coppola A,Striano P,Gimelli S,Ciampa C,Santulli L,Caranci F,Zuffardi O,Gimelli G,Striano S,Zara F

更新日期：2010-03-01 00:00:00

abstract：:The severity of intellectual sequelae and prognosis varies in patients with congenital ocular motor apraxia (COMA). Here, we explored this phenomenon with regard to the accompanying oculomotor signs and gross motor development, as well as the subtentorial structure defects. Ten patients diagnosed with COMA (M:F=4:6, 4...

journal_title：Brain & development

authors： Kondo A,Saito Y,Floricel F,Maegaki Y,Ohno K

更新日期：2007-08-01 00:00:00