Abstract：
:Progressive multifocal leukoencephalopathy is a demyelinating disease caused by JC virus, an opportunistic infection of the central nervous system. Although the majority of cases are infected with the human immunodeficiency virus (HIV), other immunocompromised patients are also at risk. Purine nucleoside phosphorylase is an enzyme in the purine salvage pathway that reversibly converts inosine to hypoxanthine and guanosine to guanine. Purine nucleoside phosphorylase deficiency is a combined immunodeficiency with a profound cellular defect. Neurologic abnormalities are salient features of this syndrome. We describe for the first time a patient with this rare disorder presented with progressive multifocal leukoencephalopathy.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Parvaneh N,Ashrafi MR,Yeganeh M,Pouladi N,Sayarifar F,Parvaneh Ldoi
10.1016/j.braindev.2006.07.008subject
Has Abstractpub_date
2007-03-01 00:00:00pages
124-6issue
2eissn
0387-7604issn
1872-7131pii
S0387-7604(06)00167-7journal_volume
29pub_type
杂志文章abstract：:We investigated potential renal functional impairment induced by chronic use of anti-epileptic drugs (AEDs) in 79 epileptic children. They were divided into five groups: valproic acid (VPA) monotherapy where the serum concentration (SC) of VPA was no less than 60 micrograms/ml (VPA [SC > or = 60]) (15 cases), VPA mono...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90003-5
更新日期：1994-11-01 00:00:00
abstract：:West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present during infancy. Any theory for the pathogenesis of WS has to account f...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00312-6
更新日期：2001-11-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.06.016
更新日期：2011-05-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00069-1
更新日期：1997-01-01 00:00:00
abstract：:We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MR...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.06.009
更新日期：2013-05-01 00:00:00
abstract：:We characterized the neuropsychological status of children with newly diagnosed idiopathic childhood epilepsy and measured differences in IQ between children with different types of epilepsy. The Korean Education Development Institute-Wechsler Intelligence Scale for Children (KEDI-WISC) was administered to 72 patients...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.11.003
更新日期：2011-09-01 00:00:00
abstract：:We examined seizure, cognitive, and motor outcomes in patients with Rasmussen syndrome or Rasmussen encephalitis (RS), after recent initiation of immunomodulatory therapies. Among 53 patients with a diagnosis of RS referred from all over Japan, 49 patients (male 22, female 27) with symptoms and findings characteristic...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.01.010
更新日期：2013-09-01 00:00:00
abstract：OBJECTIVE:Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurologica...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.12.003
更新日期：2016-06-01 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
pub_type：
doi：10.1016/j.braindev.2019.10.002
更新日期：2020-02-01 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：: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：:We describe a 14-month-old girl who presented with arterial ischemic stroke due to moyamoya disease, unilateral renal agenesis and external iliac artery stenosis. The association of moyamoya disease with renal agenesis and external iliac artery stenosis has not been described before. This report expands the spectrum o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.09.011
更新日期：2011-08-01 00:00:00
abstract：:Three cases of Lesch-Nyhan syndrome (LNS) were examined by polysomnography to assess the brainstem function, and to determine the causes of the neurological manifestations and sudden death in this syndrome. In the two older cases, the amount of slow wave and rapid eye movement (REM) sleep, the REM density and the freq...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(98)00052-7
更新日期：1998-12-01 00:00:00
abstract：:Cat scratch disease (CSD) is a zoonotic illness caused by the Gram negative bacillus Bartonella henselae characterized by a small skin lesion at the site of a bite, lick or scratch by a cat, commonly followed by regional lymphadenopathy 1 or 2 weeks later. We report herein on severe neurological complications of CSD c...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.11.001
更新日期：2007-07-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80026-0
更新日期：1982-01-01 00:00:00
abstract：BACKGROUND:The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarit...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.06.008
更新日期：2010-05-01 00:00:00
abstract：OBJECTIVE:Spontaneous movements at 2 months of corrected age in preterm infants with intellectual disability (ID) were investigated by assessing individual motor elements separated from movements involving the entire body. METHODS:Video recordings of 20 preterm infants with ID (16 males, 4 females; median gestational ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.08.003
更新日期：2014-08-01 00:00:00
abstract：:The sleep patterns of children often cause anxiety to their parents. Some disturbances are unusual, and therefore may cause diagnostic difficulties. Sleep walking and night terrors can be confused with epileptic seizures. The sudden sleep of narcolepsy can lead to false accusations, when in fact the episodes are beyon...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80262-2
更新日期：1992-05-01 00:00:00
abstract：:3-Ketothiolase deficiency (3KTD) manifests with intermittent acidosis and is due to deficiency of mitochondrial 2-methylacetoacetate thiolase. Only 22 patients have been previously reported. Although its variable clinical presentation is recognized, the associated neurological findings have not been detailed. We repor...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90095-7
更新日期：1994-11-01 00:00:00
abstract：:We examined the effects of stimulus rates on the somatosensory evoked potential (SEP) amplitudes following median nerve stimulation at the wrist in 42 children. We divided these subjects into five groups according to their age (0-6 months, 7-12 months, 1-3 years, 4-6 years and more than 7 years) and measured the peak-...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00092-8
更新日期：1999-03-01 00:00:00
abstract：:A 10-year-old girl with a mass lesion in the left deep frontal lobe was reported. Clinically, seizures occurred at 3 years and 8 months and became intractable around the age of 5.5 years. EEG initially showed focal spikes on the left fronto-central area and later developed into diffuse slow spike and wave complexes (D...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80116-9
更新日期：1985-01-01 00:00:00
abstract：PURPOSE:Ictal fear is an uncommon condition in which fear manifests as the main feature of epileptic seizures. The literature has suggested that ictal fear is generally associated with poor seizure outcomes. We wanted to clarify the variability in seizure outcome of children with ictal fear. SUBJECTS AND METHODS:We id...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.11.011
更新日期：2014-10-01 00:00:00
abstract：:Findings from a Golgi study of the visual cortex in patients with the Down syndrome were compared with those from neurologically normal, age-matched control subjects. The dendritic atrophy seen in childhood continued into adulthood, with a marked decrease in dendritic branching, dendritic length, and spine frequency i...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80082-8
更新日期：1989-01-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80042-5
更新日期：1985-01-01 00:00:00
abstract：OBJECTIVE:We retrospectively reviewed six patients with incontinentia pigmenti (IP) who had encephalopathic manifestations during early infancy. METHODS:We enrolled six patients who met the following criteria from the mailing list of the Annual Zao Conference: (1) diagnosis of IP; (2) encephalopathic manifestations wi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.04.002
更新日期：2011-01-01 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：: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
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00217-0
更新日期：2001-07-01 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：: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：: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
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00101-8
更新日期：1996-01-01 00:00:00
