Tourette's syndrome with cervical disc herniation.

abstract：:Aims of our study were to describe the early clinical features of Dravet syndrome (SMEI) and the neurological, cognitive and behavioral outcome. The clinical history of 37 patients with clinical diagnosis of SMEI, associated with a point mutation of SCN1A gene in 84% of cases, were reviewed with particular attention t...

journal_title：Brain & development

authors： Ragona F,Brazzo D,De Giorgi I,Morbi M,Freri E,Teutonico F,Gennaro E,Zara F,Binelli S,Veggiotti P,Granata T

更新日期：2010-01-01 00:00:00

abstract：:Childhood leukodystrophies are a growing category of neurological disorders in pediatric neurology practice. With the help of new advanced genetic studies such as whole exome sequencing (WES) and whole genome sequencing (WGS), the list of childhood heritable white matter disorders has been increased to more than one h...

journal_title：Brain & development

authors： Ashrafi MR,Tavasoli AR

更新日期：2017-05-01 00:00:00

abstract：:Serial cranial ultrasound examinations were performed through the anterior fontanel to detect and follow the complications of bacterial meningitis in 16 neonates. The final results included normal findings in 9 patients, and abnormal in the other 7 cases. Among the latter, 5 patients with hydrocephalus were sequential...

journal_title：Brain & development

authors： Hung KL

更新日期：1986-01-01 00:00:00

abstract：:We report seizures induced by adrenocorticotropic hormone (ACTH), which were demonstrated clinically and electro-encephalographically, in a severely handicapped 7-month-old infant with West syndrome due to perinatal hypoxicischemic encephalopathy. Although tonic spasms (original seizures) decreased soon after starting...

journal_title：Brain & development

authors： Kanayama M,Ishikawa T,Tauchi A,Kobayashi M,Takasaka Y,Shibata H

更新日期：1989-01-01 00:00:00

abstract：:Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental. ...

journal_title：Brain & development

authors： Gordon CR,Bar-Ziv Y,Frydman M,Zlotogora J,Gadoth N

更新日期：1990-01-01 00:00:00

abstract：AIM:Cerebellar injury is a characteristic injury associated with preterm infants. However, the impact of cerebellar injury on the development of preterm infants is unclear. METHOD:We reviewed magnetic resonance image studies of preterm infants with cerebral palsy retrospectively and evaluated the developmental outcome...

journal_title：Brain & development

authors： Kobayashi S,Wakusawa K,Inui T,Tanaka S,Kobayashi Y,Onuma A,Haginoya K

更新日期：2015-10-01 00:00:00

abstract：:MRI appearance of Sturge-Weber Syndrome (SWS) in patients with Tuberous Sclerosis (TSC) has been rarely reported. We describe a new patient with confirmed diagnosis of TSC and MRI appearance of SWS and review the pertinent literature. We discuss these findings on the basis of the new classifications of brain malformat...

journal_title：Brain & development

authors： Curatolo P,Lo-Castro A,Pinci M,Moavero R,Bombardieri R

更新日期：2009-05-01 00:00:00

abstract：:A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopath...

journal_title：Brain & development

authors： Hirabayashi S,Shigematsu H,Iai M,Takashima S

更新日期：2000-01-01 00:00:00

abstract：:Approximately 10% of patients with systemic lupus erythematosus (SLE) develop epileptic seizures. When occurring before the onset of generalized SLE, the seizures are mainly primary generalized. Accordingly, long-term treatment with anti-epileptic drugs may precipitate SLE, or epilepsy and SLE may both occur as manife...

journal_title：Brain & development

authors： Aarli JA

更新日期：1993-01-01 00:00:00

abstract：:Factors useful to predict seizure frequency and duration of antiepileptic treatment of children with benign partial epilepsy and rolandic spikes were retrospectively evaluated in 72 patients seizure-free for at least 5 years and off antiepileptic drugs for at least 2 years. Three groups were considered: Group I, 11 pa...

journal_title：Brain & development

authors： Ambrosetto G,Giovanardi Rossi P,Tassinari CA

更新日期：1987-01-01 00:00:00

abstract：: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 repo...

journal_title：Brain & development

authors： Tsuchiya H,Akiyama T,Kuhara T,Nakajima Y,Ohse M,Kurahashi H,Kato T,Maeda Y,Yoshinaga H,Kobayashi K

更新日期：2019-03-01 00:00:00

abstract：OBJECTIVE:Acute encephalitis with refractory repetitive partial seizure (AERRPS) is a peculiar type of post-encephalitic/encephalopathic epilepsy. Here we report an analysis of AERRPS in a series of children and propose an effective treatment option for seizure control in these children. METHODS:We retrospectively rev...

journal_title：Brain & development

authors： Lin JJ,Lin KL,Wang HS,Hsia SH,Wu CT

更新日期：2009-09-01 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：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：PURPOSE:We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types. SUBJECTS:Subjects were prospectively recruited from children with epilepsy who satisfied the...

journal_title：Brain & development

authors： Oguni H,Otsuki T,Kobayashi K,Inoue Y,Watanabe E,Sugai K,Takahashi A,Hirose S,Kameyama S,Yamamoto H,Hamano S,Baba K,Baba H,Hong SC,Kim HD,Kang HC,Luan G,Wong TT

更新日期：2013-09-01 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：:Infarct locations in children with arterial ischemic stroke have primarily been reported to be lobar or in the basal ganglia, and those in patients with Down syndrome (DS) and antiphospholipid syndrome (APS) are typically wide and multiple. No solitary brain stem infarctions have ever been reported in children with DS...

journal_title：Brain & development

authors： Imagi T,Matsushita T,Matsushita M,Yae Y,Yokochi T,Kawano G,Akita Y,Ohbu K,Matsuishi T

更新日期：2019-06-01 00:00:00

abstract：:The pathological role of autoantibodies in development of CNS disorders is a new idea with growing interest among neuroscientists. The involvement of autoimmune response in the pathogenesis of autism spectrum disorders (ASD) has been suggested by the presence of multiple brain-specific autoantibodies in children with ...

journal_title：Brain & development

authors： Mazur-Kolecka B,Cohen IL,Gonzalez M,Jenkins EC,Kaczmarski W,Brown WT,Flory M,Frackowiak J

更新日期：2014-04-01 00:00:00

abstract：:In this retrospective study, we reviewed the charts and collected clinical and radiographic data on children (age range, 1 month to 18 years) with symptoms and radiographic confirmation of ischemic stroke for the period of January 1996 to July 2006. Ninety-four children were enrolled. Eighty-eight had arterial ischemi...

journal_title：Brain & development

authors： Lee YY,Lin KL,Wang HS,Chou ML,Hung PC,Hsieh MY,Lin JJ,Wong AM

更新日期：2008-01-01 00:00:00

abstract：:The present study was undertaken to clarify how we should assess the necessity of close follow-up in each case, when we first examine an infant with ankle clonus within the first year of life. The neurologic prognoses of 169 infants who had exhibited ankle clonus at least once during the first year of life were review...

journal_title：Brain & development

authors： Futagi Y,Otani K,Goto M

更新日期：1997-01-01 00:00:00

abstract：:As a treatable cause of CNS dysfunctions in the fetal alcohol syndrome (FAS), low-zinc-status in addition to hypoglycemia has been investigated in experimental rat models. During the premating period female rats of an ethanol group and a control group received 30% ethanol (E) and water (W), respectively. During pregna...

journal_title：Brain & development

authors： Tanaka H,Nakazawa K,Suzuki N,Arima M

更新日期：1982-01-01 00:00:00

abstract：:In 48 families in which tuberous sclerosis occurred, extensive examination presented almost the same incidence of sporadic cases as reported in previous studies. Although inspection of the skin and cranial computed tomography seem to be the most sensitive diagnostic tests available, negative results with these methods...

journal_title：Brain & development

authors： Fleury P,de Groot WP,Delleman JW,Verbeeten B Jr,Frankenmolen-Witkiezwicz IM

更新日期：1980-01-01 00:00:00

abstract：:The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological si...

journal_title：Brain & development

authors： Rolando S

更新日期：1985-01-01 00:00:00

abstract：BACKGROUND:Mutations in the XPR1 gene are associated with primary familial brain calcifications (PFBC). All reported mutations are missense and inherited as an autosomal dominant trait. PFBC patients exhibited movement disorders, neuropsychiatric symptoms, and other associated symptoms with diverse severity, even withi...

journal_title：Brain & development

authors： Tang LO,Hou BH,Zhang XN,Xi ZY,Li CX,Xu L

更新日期：2021-02-01 00:00:00

abstract：:We previously reported that knockout mice lacking the p85alpha regulatory subunit of phosphoinositide-3 kinase (PI3K) (p85alpha(-/-) mice) significantly showed spatial learning-deficits, restlessness and motivation-deficit in water maze tests. It was also shown in the report that decline of PI3K activity in several br...

journal_title：Brain & development

authors： Tohda C,Nakanishi R,Kadowaki M

更新日期：2009-01-01 00:00:00

abstract：:Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients ...

journal_title：Brain & development

authors： Sahin Y,Güngör O,Ayaz A,Güngör G,Sahin B,Yaykasli K,Ceylaner S

更新日期：2017-02-01 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：: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：PURPOSE:Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype and 3-kb insertion in the FKTN 3' untranslated region. METHODS:Immun...

journal_title：Brain & development

authors： Yang H,Kobayashi K,Wang S,Jiao H,Xiao J,Toda T,Wu X,Xiong H

更新日期：2015-10-01 00:00:00

abstract：:In order to evaluate the criteria for discontinuing neonatal anticonvulsant treatment, 55 newborns with seizures have been studied. Clinical and EEG serial examinations were performed: soon after the first seizure, throughout the hospital course, and during the follow-up every 3 months until a year, and every 6 months...

journal_title：Brain & development

authors： Scarpa P,Chierici R,Tamisari L,Fortini C,Volpato S

更新日期：1983-01-01 00:00:00