A rare case with diurnal fluctuation of head instability, hypotonia and choreoathetotic movements improved by L-dopa treatment.

abstract：OBJECTIVE:Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments. METHODS:We recruited patients with pathogenic o...

journal_title：Brain & development

authors： Kobayashi Y,Tohyama J,Takahashi Y,Goto T,Haginoya K,Inoue T,Kubota M,Fujita H,Honda R,Ito M,Kishimoto K,Nakamura K,Sakai Y,Takanashi JI,Tanaka M,Tanda K,Tominaga K,Yoshioka S,Kato M,Nakashima M,Saitsu H,Matsumot

更新日期：2021-01-09 00:00:00

abstract：:We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2-1.1 years) and 10 SMA II patients (age, 1.0-2.8 years) were examined. Patients were compared to age-matched controls for motor and sensory conduction velocity (MCV and SCV) c...

journal_title：Brain & development

authors： Yonekawa T,Komaki H,Saito Y,Sugai K,Sasaki M

更新日期：2013-02-01 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：: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：:Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characteriz...

journal_title：Brain & development

authors： Ahn H,Seo GH,Keum C,Heo SH,Kim T,Choi J,Yum MS,Lee BH

更新日期：2020-05-01 00:00:00

abstract：:MPS type II (Hunter disease) results from deficiency of the lysosomal enzyme iduronate-2-sulfate sulfatase. Two forms of the disease have been recognized, based on absence or presence of progressive intellectual deterioration. This study aimed to assess activities of daily life (ADL) in 27 Hunter disease-affected Japa...

journal_title：Brain & development

authors： Kato T,Kato Z,Kuratsubo I,Ota T,Orii T,Kondo N,Suzuki Y

更新日期：2007-06-01 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：: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：:A 6-month-old boy with persistent primitive trigeminal artery (PPTA) presented with stridor, dysphagia, delayed motor development and postural neck and shoulder dystonia. Magnetic resonance imaging/angiography and ultrasonography revealed PPTA, with flow from the dilated basilar artery to the right internal carotid ar...

journal_title：Brain & development

authors： Okanishi T,Saito Y,Miki S,Nagaishi J,Hanaki K,Tomita Y,Fukuda C,Fujii S,Fujiwara K,Kawamoto K,Hata F,Maegaki Y,Ohno K

更新日期：2007-04-01 00:00:00

abstract：:Eighteen children with diplegic form of cerebral palsy (CP) underwent magnetic resonance imaging (MRI) because of the enlarged occipital horns of both lateral ventricles found on previous computerized tomography (CT). In 16 of them squint was present. MRI in flow attenuated inversion recovery (FLAIR) and turbo spin ec...

journal_title：Brain & development

authors： Seidl Z,Süssová J,Obenberger J,Vanecková M,Viták T,Rydland J

更新日期：2001-03-01 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：OBJECTIVE:Cognitive impairments had been reported in childhood acute lymphoblastic leukemia, what caused the impairments needed to be demonstrated, chemotherapy-related or the disease itself. The primary aim of this exploratory investigation was to determine if there were changes in brain function of children with acut...

journal_title：Brain & development

authors： Hu Z,Zou D,Mai H,Yuan X,Wang L,Li Y,Liao J,Liu L,Liu G,Zeng H,Wen F

更新日期：2017-10-01 00:00:00

abstract：:The common factor causing congenital arthrogryposis is lack of fetal movements. This can result from a large number of disorders. They may be neuropathic, affecting the brain, the spinal cord, or the peripheral nerves; they may be abnormalities of the muscles, such as myasthenia gravis, congenital muscular dystrophies...

journal_title：Brain & development

authors： Gordon N

更新日期：1998-10-01 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：:The purpose of this study was to clarify the risk factors of relapse following discontinuation of AEDs in patients with childhood-onset cryptogenic localization-related epilepsies. The subjects were 82 patients who fulfilled the following criteria: (1) age at first visit of less than 15 years, (2) follow-up period of ...

journal_title：Brain & development

authors： Ohta H,Ohtsuka Y,Tsuda T,Oka E

更新日期：2004-01-01 00:00:00

abstract：:To elucidate the nature of an overabundance of collagen seen on microscopic examination in tuberous sclerous (TS), the hydroxyproline content in tissues and urine was determined. TS tissues of 5 patients were obtained on necropsy or plastic surgery. Urine was collected from 10 patients with TS and 19 controls. Tumors ...

journal_title：Brain & development

authors： Tanaka H,Arima M

更新日期：1981-01-01 00:00:00

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：BACKGROUND:Guillain Barre syndrome (GBS) commonly presents with limb weakness and occasional cranial nerve, respiratory or autonomic involvement. Isolated or predominant bilateral finger drop as presenting feature has never been reported in the pediatric age group. CASE:A 9-year-old boy presented with deformity of bot...

journal_title：Brain & development

authors： Dubey R,Kaushik JS,Israni A,Saini L,Patel H,Chakrabarty B,Gulati S

更新日期：2016-02-01 00:00:00

abstract：:Compared with DMD cases and non-neuromuscular disease controls, FCMD cases showed a reduction of total gangliosides, and an abnormal, immature ganglioside pattern in the cerebral gray and white matter. However, GM4, which is only found in myelin and oligodendroglia, and is a unique quantitative marker of myelination, ...

journal_title：Brain & development

authors： Izumi T,Hara K,Ogawa T,Osawa M,Saito K,Novo ML,Fukuyama Y,Takashima S

更新日期：1995-01-01 00:00:00

abstract：:In order to elucidate the molecular mechanisms underlying neuronal migration in the developing rat cerebral cortex, a novel primary tissue culture system in which neuronal migration can be evaluated was developed. Using this culture system, through autoradiographic studies we demonstrated the migration of [3H]thymidin...

journal_title：Brain & development

authors： Matsushita K,Yoshioka H,Fushiki S,Hirai K,Kihara M,Kadono N,Hasegawa K,Goma H,Sawada T

更新日期：1997-11-01 00:00:00

abstract：:Head angular stability is essential for postural control in whole body movement. Using the opto-electronic ELITE system, we have studied head orientation during the movements of squatting from the standing position and straightening-up from the squatting position in 12 children with spastic diplegia and 12 age-matched...

journal_title：Brain & development

authors： Dan B,Bouillot E,Bengoetxea A,Noël P,Kahn A,Cheron G

更新日期：2000-03-01 00:00:00

abstract：OBJECTIVE:To evaluate the efficacy and safety of intravenous (i.v.) thiamylal in pediatric magnetic resonance imaging (MRI) sedation. METHODS:Infants and children from 1 month up to 8 years of age who underwent MRI in our hospital between April 2017 and March 2019 were included in this prospective observational study....

journal_title：Brain & development

authors： Irie S,Hirai K,Kano K,Yanabe S,Migita M

更新日期：2020-08-01 00:00:00

abstract：:The electroencephalographic features and their evolutional changes with age were described in three cases of lissencephaly syndrome diagnosed by CT scan. The case with more severe lissencephaly displayed very similar EEG findings. In early or middle infancy when infantile spasms began, EEG showed very high amplitude (...

journal_title：Brain & development

authors： Hakamada S,Watanabe K,Hara K,Miyazaki S

更新日期：1979-01-01 00:00:00

abstract：:We report the case of an 11-year-old girl who developed slowly progressive atrophy of the left lower extremity. She suffered from mild dilated cardiomyopathy of unknown cause since 4years of age. When she was 7years old, her family noticed that her left extremity was thinner compared to the right one. Computed tomogra...

journal_title：Brain & development

authors： Miyahara-Katayama A,Ohya Y,Omi T,Komaki H,Nonaka I,Sato N,Sasaki M

更新日期：2010-04-01 00:00:00

abstract：:Relative to their numbers, more than twice the number of disabled children fell victim to the Great East Japan Earthquake than did normal people. It was important to find out needs and provide support, as the needs of disabled children vulnerable to the disaster, such as a shortage of diapers of the right size for dis...

journal_title：Brain & development

authors： Tanaka S

更新日期：2013-03-01 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：:Previously we have observed different characteristic chromatographic ultraviolet absorbancy profiles at 280 nm for urinary protein precipitates from patients with behavioral disorders. The purpose with this study was to look for similar changes in urinary protein excretion from the grossly disabled patients with the R...

journal_title：Brain & development

authors： Foss I,Hagberg B,Trygstad O

更新日期：1985-01-01 00:00:00

abstract：:The molybdenum cofactor is essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischae...

journal_title：Brain & development

authors： Per H,Gümüş H,Ichida K,Cağlayan O,Kumandaş S

更新日期：2007-07-01 00:00:00

abstract：:Two children treated for status epilepticus had low plasma phenytoin levels during enteral feeding, despite adequate oral dosage. The target range (10-20 mg/l) was achieved when feeds were stopped, or when intravenous phenytoin was used. Enteral feeding may interfere with the absorption of oral phenytoin thereby compr...

journal_title：Brain & development

authors： O'Hagan M,Wallace SJ

更新日期：1994-03-01 00:00:00

abstract：:Overnight sleep polygrams were recorded before and during therapy in nine patients with infantile spasms. Results showed that ACTH therapy increased the waking time and decreased rapid eye movement sleep. Thus it caused sleep disturbance in patients with infantile spasms. During ACTH therapy the number of rapid eye mo...

journal_title：Brain & development

authors： Hashimoto T,Hiura K,Suzue J,Nokawa T,Fukuda K,Endo S,Tayama M,Tamura Y,Miyao M

更新日期：1981-01-01 00:00:00