Successful botulinum toxin treatment of dysphagia in a spinal muscular atrophy type 2 patient.

abstract：:Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI an...

journal_title：Brain & development

authors： Urgelles E,Pascual-Castroviejo I,Roche C,Moneo JL,Martinez MA,Vega A

更新日期：1996-01-01 00:00:00

abstract：:A 5-year-old boy with acute cerebellar ataxia was examined by means of magnetic resonance imaging (MRI) and was found to have a lesion showing low and high signal intensity in T1- and T2-weighted images, respectively, in the left cerebellar peduncle in the acute phase. The lesion disappeared in the convalescent phase....

journal_title：Brain & development

authors： Hayashi T,Ichiyama T,Kobayashi K

更新日期：1989-01-01 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 1-year-old male began suffering from West syndrome at 3 months of age, when electroencephalography revealed hypsarrhythmia accompanied by a periodic, brief suppression phase. The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief ...

journal_title：Brain & development

authors： Nonoda Y,Saito Y,Nagai S,Sasaki M,Iwasaki T,Matsumoto N,Ishii M,Saitsu H

更新日期：2013-03-01 00:00:00

abstract：:A 7-year-old boy began to complain that his pitch perception was decreased just after oral medication with carbamazepine was initiated for the treatment of epilepsy. When he played the piano, he felt as if he had played a musical note of almost a half pitch lower than he had. His pitch perception recovered soon after ...

journal_title：Brain & development

authors： Yoshikawa H,Abe T

更新日期：2003-03-01 00:00:00

abstract：:Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neur...

journal_title：Brain & development

authors： Afenjar A,Moutard ML,Doummar D,Guët A,Rabier D,Vermersch AI,Mignot C,Burglen L,Heron D,Thioulouse E,de Villemeur TB,Campion D,Rodriguez D

更新日期：2007-10-01 00:00:00

abstract：:Propionic acidemia manifesting with hyperglycemia is rare. Few cases have been reported mainly of the neonatal-onset form associated with high mortality. We report a 9-month-old Palestinian boy who manifested with coma, severe hyperglycemia and ketoacidosis mimicking diabetic ketoacidosis. Family history of unexplaine...

journal_title：Brain & development

authors： Dweikat IM,Naser EN,Abu Libdeh AI,Naser OJ,Abu Gharbieh NN,Maraqa NF,Abu Libdeh BY

更新日期：2011-05-01 00:00:00

abstract：:Fifty-one consecutive adult patients with epilepsy and early development destructive brain lesions were divided into three main groups according to the topographic distribution of the lesion on magnetic resonance imaging: hemispheric (H) (n=9); main arterial territory (AT) (n=25) and arterial borderzone (Bdz) (n=17). ...

journal_title：Brain & development

authors： Teixeira RA,Li LM,Santos SL,Zanardi VA,Honorato DC,Guerreiro CA,Cendes F

更新日期：2003-12-01 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：:The aim of this study is to investigate predictive factors of post-traumatic syndrome in children with minor head injury. Prospective neurological, electroencephalographic and psychological investigations were performed in 98 children aged 3-13 years within 24 h after the trauma and 4-6 weeks later. Inclusion criteria...

journal_title：Brain & development

authors： Korinthenberg R,Schreck J,Weser J,Lehmkuhl G

更新日期：2004-03-01 00:00:00

abstract：:Typical Cockayne syndrome was seen in a boy and his younger sister and these two cases are reported here, and reported cases of the syndrome in Japan are summarized. Both cases (an 11-year-old boy and a 7-year-old girl) had dwarfism, a senile face, retinitis pigmentosa, photosensitivity, and mental retardation. Calciu...

journal_title：Brain & development

authors： Jin K,Handa T,Ishihara T,Yoshii F

更新日期：1979-01-01 00:00:00

abstract：:This trial sought to evaluate our experience using the antimigraine prophylactic drug, use of valproate for the prophylactic management of cyclic vomiting syndrome (CVS) in children. Thirteen children diagnosed with severe CVS were enrolled. Prophylactic therapy consisted of valproate administered at a dose of 10-40 m...

journal_title：Brain & development

authors： Hikita T,Kodama H,Nakamoto N,Kaga F,Amakata K,Ogita K,Kaneko S,Fujii Y,Yanagawa Y

更新日期：2009-06-01 00:00:00

abstract：:An unique cytoplasmic inclusion was found in astrocytes of a 2-month-old female baby who showed Leigh-like brain lesions with lactic acidosis, hypoglycemia and hepatomegaly. Although a defective enzyme was not determined, a metabolic disorder was suggested from clinicopathological observations. Symmetrically distribut...

journal_title：Brain & development

authors： Yamamoto T,Armstrong D,Shibata N,Kato Y,Kobayashi M

更新日期：2000-06-01 00:00:00

abstract：BACKGROUND:The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. MATERIALS & METHODS:We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years). Their medical records fro...

journal_title：Brain & development

authors： Kurahashi N,Miyake N,Mizuno S,Koshimizu E,Kurahashi H,Yamada K,Natsume J,Aoki Y,Nakamura M,Taniai H,Maki Y,Abe-Hatano C,Matsumoto N,Maruyama K

更新日期：2017-09-01 00:00:00

abstract：:Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents....

journal_title：Brain & development

authors： Topcu M,Saatci I,Topcuoglu MA,Kose G,Kunak B

更新日期：1998-04-01 00:00:00

abstract：:In a patient with holoprosencephaly, partial seizures had various initial ictal symptoms, and ictal EEGs showed epileptogenic foci in the right and left brain. Partial seizures did not culminate in secondary generalized tonic-clonic convulsions. Characteristic malformed structures contribute to the absence of secondar...

journal_title：Brain & development

authors： Takahashi S,Takahashi Y,Kondo N,Orii T

更新日期：2001-07-01 00:00:00

abstract：:Autism is now widely accepted as a biological disorder which, by and large, starts before birth. It has been shown that serotonin (5-HT) is associated with several psychological processes and hyperserotoninemia is observed in some autistic patients. The results of previous reports about family-based association studie...

journal_title：Brain & development

authors： Koishi S,Yamamoto K,Matsumoto H,Koishi S,Enseki Y,Oya A,Asakura A,Aoki Y,Atsumi M,Iga T,Inomata J,Inoko H,Sasaki T,Nanba E,Kato N,Ishii T,Yamazaki K

更新日期：2006-05-01 00:00:00

abstract：:Communicating hydrocephalus was inadvertently induced in a neonate by bilateral jugular vein catheterization. Removal of one catheter resulted in return to normal ventricular size within 14 days. The complication of hydrocephalus from bilateral jugular vein catheterization can be reversed by prompt removal of one cath...

journal_title：Brain & development

authors： Wu XR,Swaiman KF

更新日期：1982-01-01 00:00:00

abstract：:Morphological and biochemical analysis of tissue from a 21-week-old fetus with Krabbe disease was performed. Galactosylceramidase activity was virtually absent in cultured amniotic cells obtained during the pregnancy of this fetus. The prenatal diagnosis was confirmed by enzymatic analysis of fetal cultured skin fibro...

journal_title：Brain & development

authors： Ida H,Rennert OM,Watabe K,Eto Y,Maekawa K

更新日期：1994-11-01 00:00:00

abstract：:Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...

journal_title：Brain & development

authors： Vigevano F,Fusco L,Pachatz C

更新日期：2001-11-01 00:00:00

abstract：:Adrenocorticotropic hormone (ACTH) has been the first-line drug for the treatment of West syndrome, although the therapy has various adverse effects. ACTH depresses resistance to a variety of bacterial, viral, protozoal, and fungal agents. The timing of the various vaccinations is delayed after ACTH therapy in Japan, ...

journal_title：Brain & development

authors： Ohya T,Nagai T,Araki Y,Yanagawa T,Tanabe T,Iyoda K,Kurihara M,Yamamoto K,Masunaga K,Iizuka C,Nagamitsu S,Yamashita Y,Awaya Y,Maekawa K,Matsuishi T,Research Group on Adverse Effects of Vaccination in Patients with Neurologic

更新日期：2009-11-01 00:00:00

abstract：BACKGROUND:Acute disseminated encephalomyelitis (ADEM) is clinically characterized by the acute onset of neurological symptoms after a viral infection or immunization, and is thought to represent an autoimmune disease directed against myelin. Tau protein is a phosphorylated microtubule-associated protein, primarily loc...

journal_title：Brain & development

authors： Oka M,Hasegawa S,Matsushige T,Inoue H,Kajimoto M,Ishikawa N,Isumi H,Ichiyama T

更新日期：2014-01-01 00:00:00

abstract：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 clin...

journal_title：Brain & development

authors： Kashimada A,Hasegawa S,Nomura T,Shiraku H,Moriyama K,Suzuki T,Nakajima K,Mizuno T,Imai K,Sugawara Y,Morio T,Kumada S,Takagi M

更新日期：2019-02-01 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：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：PURPOSE:We performed this study to evaluate the long-term efficacy and tolerability of ethosuximide (ESX), valproic acid (VPA), and lamotrigine (LTG) as initial monotherapies for patients with newly diagnosed childhood absence epilepsy. METHODS:We retrospectively reviewed the medical records of 128 patients (45 boys a...

journal_title：Brain & development

authors： Hwang H,Kim H,Kim SH,Kim SH,Lim BC,Chae JH,Choi JE,Kim KJ,Hwang YS

更新日期：2012-05-01 00:00:00

abstract：:The long-term effectiveness of acetazolamide (AZA) and its side effects, especially the formation of renal calculi, were investigated in a prospective study when AZA was used as an adjunct to other antiepileptic drugs in the treatment of refractory epilepsies. The subjects comprised 37 patients aged from 1 to 17 years...

journal_title：Brain & development

authors： Katayama F,Miura H,Takanashi S

更新日期：2002-04-01 00:00:00

abstract：:Various abnormalities of sleep have been reported in extrapyramidal diseases in adults. We have investigated the disturbances of REM sleep (SREM) in severe athetoid cerebral palsy (ACP) originating perinatally. Ten ACP patients, 5 males and 5 females ranging from 15 to 30 years old, were studied by means of all-night ...

journal_title：Brain & development

authors： Hayashi M,Inoue Y,Iwakawa Y,Sasaki H

更新日期：1990-01-01 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：:Learning disorders of various types are relatively common, and the reaction of the affected child can lead to social problems. The higher the children's intelligence the more frustrated they can become. Lack of self-esteem can cause unacceptable behaviour in trying to counteract this, and boost the child's confidence....

journal_title：Brain & development

authors： Gordon N

更新日期：1993-05-01 00:00:00