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 muscle weakness, severe hyperesthesia, dyshidrosis, and neurogenic bladder associated with autonomic disturbance developed over several days. Intravenous immunoglobulin therapy gave no obvious improvement of her symptoms. Motor and sensory impairment improved slowly without medical treatment, but dysautonomia persisted for a long time. Sural nerve biopsy revealed axonal degeneration of small fibers, involving both myelinated and unmyelinated fibers, which is compatible with the autonomic sensory and motor neuropathy. AASM is very rare in pediatric populations, and there is no report of AASM associated with HPV-B19 infection.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Hanai S,Komaki H,Sakuma H,Nakagawa E,Sugai K,Sasaki M,Oya Y,Higurashi N,Hamano Sdoi
10.1016/j.braindev.2010.03.003subject
Has Abstractpub_date
2011-02-01 00:00:00pages
161-5issue
2eissn
0387-7604issn
1872-7131pii
S0387-7604(10)00065-3journal_volume
33pub_type
杂志文章abstract::The purpose of this study is to elucidate the interrelation between the M and F wave characteristics of the median nerve and the grip power in patients with spinal muscular atrophy (SMA). The SMA patients showed decreased amplitudes of the M and F waves, decreased frequency of the F wave, and an increase of the F/M ra...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(97)00098-3
更新日期:1998-01-01 00:00:00
abstract::Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple neoplasia syndrome of the central nervous system. The aim of the present study was to characterize the clinical course of early onset NF2. The specific Japanese disease registry for NF2 in 2010 was analyzed retrospectively. The male:female ratio for the ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.01.007
更新日期:2014-02-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.01.008
更新日期:2007-10-01 00:00:00
abstract::Xeroderma pigmentosum (XP), a genetic disorder in DNA nucleotide excision repair, is characterized by skin hypersensitivity to sunlight and progressive neurological impairment. Laryngeal dystonia and vocal cord paralysis are complications that can arise in older XP group A (XPA) patients. We report three patients with...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.09.008
更新日期:2010-09-01 00:00:00
abstract::The syndrome of brain atrophy in girls described by Andreas Rett in 1966 [Rett, Wien Klin Wochenschr, 1966;116:723-726] was brought to the attention of the English-speaking world by Hagberg et al. in 1983 [Hagberg et al., Ann Neurol, 1983;14:471-479]. Four clinical stages after the age of 6 months were described in cl...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00335-7
更新日期:2001-12-01 00:00:00
abstract::Monitoring brain function by EEG is an important means of preventing cerebral insults in pediatric cardiovascular surgery. We studied intraoperative EEG changes and their regional differences associated with hypothermia and brain ischemia. The subjects of this study consisted of 13 children ranging in age from 4 month...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00192-9
更新日期:2001-03-01 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
pub_type:
doi:10.1016/j.braindev.2020.02.008
更新日期:2020-06-01 00:00:00
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::We determined the efficacy of and tolerability to zonisamide (ZNS) in newly diagnosed patients with infantile spasms. ZNS, 4-20 mg/kg per day, was introduced as an add-on therapy or monotherapy in 27 children with infantile spasms (cryptogenic, 2; symptomatic, 25). The dosage was initially 2-4 mg/kg per day, and then ...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(98)00080-1
更新日期:1999-04-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.04.014
更新日期:2017-10-01 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
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00047-f
更新日期:1995-07-01 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
pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80006-x
更新日期:1981-01-01 00:00:00
abstract::Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.09.014
更新日期:2012-08-01 00:00:00
abstract::To determine whether or not dystrophin really exists in the outer plexiform layer (OPL) of the retina, we studied control and mdx mice, using four kinds of polyclonal antibodies (DMDP-II, 60 kd, 30 kd and DMDP-IV) against dystrophin. Although control OPL showed a positive immunohistochemical reaction with all four ant...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80123-9
更新日期:1991-01-01 00:00:00
abstract::In the acute precollicular-postmammillary decerebrate cat, stimulation of the mesencephalic locomotor region (MLR) induces "controlled locomotion" on a moving treadmill. Stimulation of the dorsal area and of the ventral area of the pons at its midline elicited a long-lasting decrease and an increase in the tone of the...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80062-6
更新日期:1986-01-01 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
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80032-4
更新日期:1989-01-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.01.003
更新日期:2010-03-01 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:BACKGROUND:Rett syndrome is a severe genetic neurodevelopmental disorder mainly affecting females. The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. METHODS:To assess pubertal trajectory we used six waves of data provided by parents of girls and wome...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.11.007
更新日期:2013-11-01 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
pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80024-2
更新日期:1983-01-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.07.008
更新日期:2016-02-01 00:00:00
abstract::Neopterin and biopterin concentrations were measured in cerebrospinal fluid (CSF) and urine samples from controls less than 1 year old. This is the first time for CSF reference data for controls less than 1 year old to be reported. The ratio of neopterin to biopterin in CSF 0-30 days (n = 48) of age in control samples...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00021-2
更新日期:1999-06-01 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::Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge o...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.04.004
更新日期:2015-11-01 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::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
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.10.005
更新日期:2019-03-01 00:00:00
abstract::Germ cell tumors originating in the posterior fossa are very rare. Described herein is a case of primary germ cell tumor (yolk sac tumor) found in the cerebellar vermis. A 5-year-old boy who complained of headache was admitted. CT and MRI revealed a tumor with diffuse enhancement by contrast medium in the right cerebe...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90128-7
更新日期:1994-09-01 00:00:00
abstract:OBJECTIVES:This study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children. METHODS:We retrospectively reviewed the medical charts of pediatric PKD patients (aged <16 years) treated with LCM. Data regarding demographic characteristics, prol...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.04.009
更新日期:2020-09-01 00:00:00
abstract::Midazolam is a relatively new anticonvulsive agent in the benzodiazepine group. It has a short onset of duration and is practical for use, providing several alternatives such as intravenous, intramuscular, and intranasal routes. The buccal route could be an alternative choice for seizure control in an emergency settin...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(02)00230-9
更新日期:2003-06-01 00:00:00
abstract:OBJECTIVE:We aimed to examine (1) the prevalence and characteristics of ADHD in preschool children, and (2) differential diagnoses among children who display symptoms of inattention and hyperactivity-impulsivity in early childhood. METHODS:The participants were children living in Kanie-cho, in Japan's Aichi Prefecture...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.11.004
更新日期:2014-10-01 00:00:00