Abstract:
:A 12-year-old girl presented with talipes equinus of both legs, attenuation of upper and lower limb tendon reflexes, thermal hyperalgesia, and reduction of vibratory sensation. On clinical examination, muscle twitches of fingers of both hands, as well as the abductor halluces and the dorsal interossei muscles of the right foot were observed. Nerve conduction velocity was significantly declined in the upper and lower extremities. Needle electromyography (EMG) was not performed; however, ultrasonography revealed repetitive, semi-regular muscle twitches lasting 0.2-0.4s, concomitant with muscle discharges on surface EMG in the right foot muscles. These findings were compatible with contraction fasciculation in muscles under chronic reinnervation. Nerve and muscle biopsies were suggestive of chronic motor, sensory, and autonomic neuropathy. This is the first case of pediatric peripheral neuropathy where muscle fasciculation was noninvasively identified by simultaneous surface EMG and ultrasonography.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Oguri M,Saito Y,Okazaki T,Matsumura W,Ohno K,Togawa M,Fukuda C,Saito Y,Nishino I,Maegaki Ydoi
10.1016/j.braindev.2017.02.006subject
Has Abstractpub_date
2017-08-01 00:00:00pages
617-620issue
7eissn
0387-7604issn
1872-7131pii
S0387-7604(17)30033-5journal_volume
39pub_type
杂志文章abstract::Assessment of treatment strategies in febrile seizures should be based on short- and long-term outcomes, with and without acute, intermittent, or chronic medical intervention, as well as short- and long-term side effects. Febrile seizures are a benign condition with a normal neurological, motor, intellectual, and cogn...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(96)00059-9
更新日期:1996-11-01 00:00:00
abstract::Transmission of information in the brain is of a chemical nature. Neurotransmitters are present at very early stages of brain development, having trophic effects on maturation of target neurons as well as mediating the behavioral repertoire of the immature brain. Many centrally acting psychoactive drugs which are comm...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80058-4
更新日期:1986-01-01 00:00:00
abstract::The incidence of brain tumors in children under 15 years of age in the United States is 2.4/100,000. Based upon a US population of approximately 60 million black and white children, there are only 1,200-1,500 newly diagnosed causes of CNS neoplasia diagnosed in children each year in the US. These relatively small numb...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(89)80017-8
更新日期:1989-01-01 00:00:00
abstract::Congenital muscular dystrophy (CMD) is a heterogenous group of disorders. In the majority of cases the intelligence is preserved, which comprises the classic "occidental" (type 1) form. This type appears to be prevalent in the west. We report a five-case series in Turkey, confirming its geographical distribution. ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80066-x
更新日期:1989-01-01 00:00:00
abstract::Van der Knaap disease, characterized by megalencephalic leukoencephalopathy and subcortical cysts, is a rare and recently defined condition. We discuss here the MR image (MRI) and MR spectroscopy (MRS) features in a 30-year-old man with S93L homozygous mutation in the MLC1 gene. MRI demonstrated high intensity diffuse...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.12.006
更新日期:2006-08-01 00:00:00
abstract::Six females with Rett syndrome (RS)--all seriously motor disabled with clinical symptomatology indicating not only brain but also spinal cord impairment--were investigated using auditory and somatosensory evoked responses techniques. In all patients the responses representing the pathways through the upper spinal cord...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80076-1
更新日期:1987-01-01 00:00:00
abstract::Cystic lesions of the posterior fossa remain a controversial subject as to clinical classification and diagnosis, especially for those in combination with other intracranial abnormalities. During the period of November 1985 to June 1991, 16 patients with cystic lesions of the posterior fossa were retrospectively revie...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00067-4
更新日期:1995-11-01 00:00:00
abstract::The aim of this study was to evaluate respiratory function of severely handicapped children. Tidal volumes and respiratory rates were determined in a total of 130 children with different clinical motor abilities. Tidal volume of non-sitters (n = 39) was significantly lower than ambulators (n = 49) or sitters (n = 42) ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80067-2
更新日期:1990-01-01 00:00:00
abstract::Ten girls affected by the Rett syndrome (RS) were treated with bromocriptine in a double blind trial. Two girls showed considerable improvements in gross and fine motor development, in cognitive and social activities, and in their autonomy after four months of treatment. Minimal improvements were seen in one girl, but...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(12)80198-7
更新日期:1990-01-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.09.002
更新日期:2017-02-01 00:00:00
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
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.01.003
更新日期:2016-08-01 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
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80095-0
更新日期:1988-01-01 00:00:00
abstract::Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GL...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.04.013
更新日期:2010-05-01 00:00:00
abstract::We are presenting two cases with subacute sclerosing panencephalitis of acute and rapid form, which were initially diagnosed as acute viral encephalitis. We obtained both diffusion-weighted imaging and magnetic resonance spectroscopy, whose findings suggested the presence of acute inflammatory and metabolic changes wi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.013
更新日期:2007-06-01 00:00:00
abstract::We encountered a 10-year-old girl with fluctuating sensorineural hearing loss, episodic headache, and white matter stroke. Strenuous exercise, febrile illness, and general anesthesia all temporarily worsened hearing. Audiologic findings were asymmetric: left-sided retrocochlear dysfunction consistent with auditory neu...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.03.012
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:In order to evaluate whether face perception is intact or not in Williams syndrome (WS), the face inversion effects (FIE) in the event-related potential (ERP) or magnetoencephalography (MEG) were investigated in three teenaged patients with WS. METHODS:Responses to the inverted faces and upright faces were c...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.05.010
更新日期:2013-04-01 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
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(02)00003-7
更新日期:2002-04-01 00:00:00
abstract:PURPOSE:Many factors have been studied as potential predictors of recurrent febrile seizures (FS), however the available data in literature are inconsistent. The aim of the present paper is to determine which factors are responsible for the first and for multiple recurrences of FS, in a large sample of children with a ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.05.001
更新日期:2008-01-01 00:00:00
abstract::From 1971 to 1978, 5,202 schoolchildren from the first to the 9th grade underwent mass screening EEG. Paroxysmal discharges were recognized in 1.7%. Focal paroxysmal discharges appeared most frequently and the temporal, occipital, and central areas were the most common sites. Children having autonomic seizures, psycho...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80054-x
更新日期:1981-01-01 00:00:00
abstract::Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle which causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.12.013
更新日期:2009-11-01 00:00:00
abstract::To determine the effect of flunarizine therapy on patients with alternating hemiplegia of childhood (AHC), we sent a questionnaire by mail to council members of the Japanese Society of Child Neurology. We collected 28 AHC patients, and studied their clinical courses and the effects of drug therapy. All of the patients...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00229-7
更新日期:2001-08-01 00:00:00
abstract::The purpose of this study was to evaluate the ability of the test of variables of attention (TOVA) to distinguish between 6- to 12-year-old Japanese male children with attention deficit hyperactivity disorder (ADHD group; n=17) meeting DSM-IV and ICD-10 criteria, and age-matched, normal Japanese male controls (control...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00168-6
更新日期:2000-09-01 00:00:00
abstract::Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentatio...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.007
更新日期:2007-05-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.12.003
更新日期:2018-03-01 00:00:00
abstract::Over the past 10 years mutations in voltage-gated sodium channels (Na(v)s) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Na(v)1.1 (gene symbol SCN1A), appears to be a superculprit, registering with more than 330 mutations to date. The associated phenotypes range from ben...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2008.07.011
更新日期:2009-02-01 00:00:00
abstract::We report a 9-year-old girl with acute autonomic sensory and motor neuropathy (AASM) associated with human parvovirus B19 (HPV-B19) infection. The patient presented with fever, erythema of the entire body, and abdominal pain with vomiting. The titer of HPV-B19 IgM antibody was significantly elevated. Symptoms such as ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.03.003
更新日期:2011-02-01 00:00:00
abstract::Brain magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in one patient with merosin-deficient congenital muscular dystrophy (MDCMD) revealed significant metabolite (choline, creatine, N-acetyl aspartate) level reductions, fractional anisotropy (FA) reduction and increased apparent diffusion coef...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.10.004
更新日期:2007-06-01 00:00:00
abstract::A large body of experience has been compiled in different countries, documenting the efficacy of adenocorticotropic hormone (ACTH) for infantile spasms. This is important, because it may serve as a key for understanding this disorder, as well as for designing better medicines. However, significant discrepancies exist ...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00308-4
更新日期:2001-11-01 00:00:00
abstract::We report a 2-month-old boy who presented with apneic attacks as a manifestation of epileptic seizures at onset and eventually progressed to infantile spasms. At onset, at 2 months of age, apneic attacks were the sole symptom of epileptic fits. Although these seizures were accompanied by cyanosis, bradycardia was not ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00148-4
更新日期:1996-05-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.03.013
更新日期:2019-08-01 00:00:00