Congenital muscular dystrophies: clinical review and proposed classification.

abstract：:A morphometric magnetic resonance imaging study was performed, and the results were compared among three groups (group 1, periventricular leukomalacia patients with West syndrome; group 2, periventricular leukomalacia patients without West syndrome; and group 3, control patients) to clarify the characteristics and cau...

journal_title：Pediatric neurology

authors： Ozawa H,Hashimoto T,Endo T,Kato T,Furusho J,Suzuki Y,Takada E,Ogawa Y,Takashima S

更新日期：1998-11-01 00:00:00

abstract：:An adolescent girl with systemic lupus erythematosus presented with selective brainstem dysfunction as the initial sign of central nervous system involvement. Although computed tomography was initially normal, magnetic resonance imaging demonstrated multiple, large brainstem lesions. Serial magnetic resonance imaging,...

journal_title：Pediatric neurology

authors： McAbee GN,Barasch ES

更新日期：1990-05-01 00:00:00

abstract：BACKGROUND:Proton magnetic resonance spectroscopy can be used to assess brain integrity and maturation with age. OBJECTIVE:To compare regional cerebral magnetic resonance spectroscopy metabolite ratios in extremely low birth weight and healthy term control infants measured at term-equivalent age and to evaluate associ...

journal_title：Pediatric neurology

authors： Bapat R,Narayana PA,Zhou Y,Parikh NA

更新日期：2014-07-01 00:00:00

abstract：BACKGROUND:Clinically mild encephalopathy with a reversible splenial lesion (MERS) is the second commonest cause of encephalopathy. Several pathogens have been detected in patients with MERS type 2, such as influenza A and B, but little is known about the proportion of cases of MERS type 2 with this pathogenesis. Human...

journal_title：Pediatric neurology

authors： Sano F,Fukao T,Tamaru K,Kanemura H,Inukai T,Aihara M

更新日期：2020-12-01 00:00:00

abstract：BACKGROUND:Classic L-dopa-responsive dystonia is characterized by the triad of dystonia, diurnal fluctuation of signs, and dramatic response of signs to low-dose L-dopa therapy. Dopa-responsive dystonia succinctly summarizes the relevant clinical features. However, literal application of this label or consideration of ...

journal_title：Pediatric neurology

authors： Friedman JR

更新日期：2016-06-01 00:00:00

abstract：:The authors investigated by immunohistochemistry the distribution of protective protein in human tissues. Immunoreactivity was observed in the cytoplasm, revealing a granular pattern and cell type specificity. The most intense staining was observed in the large neurons of brain, distal and collecting tubular cells of ...

journal_title：Pediatric neurology

authors： Sohma O,Mizuguchi M,Takashima S,Satake A,Itoh K,Sakuraba H,Suzuki Y,Oyanagi K

更新日期：1999-03-01 00:00:00

abstract：:Cloxazolam has been used mainly as an anxiolytic agent. The present study was designed to evaluate the effectiveness of cloxazolam as an add-on antiepileptic drug in patients with intractable epilepsy. A total of 32 patients with intractable epilepsy were treated with cloxazolam: 13 with generalized epilepsy, 15 with ...

journal_title：Pediatric neurology

authors： Kimura N,Fujii T,Miyajima T,Kumada T,Mikuni T,Ito M

更新日期：2010-12-01 00:00:00

abstract：:In patients who undergo metabolic decompensation from urea cycle disorders, cerebrospinal fluid glutamine level may be a better marker of cerebral dysfunction than blood ammonia or glutamine levels. However, obtaining cerebrospinal fluid by lumbar puncture carries risk in these acutely ill patients with cerebral edema...

journal_title：Pediatric neurology

authors： Kojic J,Robertson PL,Quint DJ,Martin DM,Pang Y,Sundgren PC

更新日期：2005-02-01 00:00:00

abstract：:A boy diagnosed as having glycogenosis type II at three years of age, underwent a sural nerve biopsy at the age of seven years. The distribution of the diameters of myelinated nerve fibers did not clearly demonstrate a bimodal pattern. However, larger fibers of 8 microns or more in diameter were more abundant. This fi...

journal_title：Pediatric neurology

authors： Origuchi Y,Itai Y,Matsumoto S,Matsuishi T

更新日期：1986-11-01 00:00:00

abstract：:The temporal latency between an encephalopathic event and the onset of infantile spasms cannot be determined in the majority of symptomatic cases (e.g. genetic conditions, cerebral malformations). However, we can measure this interval when a previously normal infant sustains brain injury followed by infantile spasms. ...

journal_title：Pediatric neurology

authors： Guggenheim MA,Frost JD Jr,Hrachovy RA

更新日期：2008-01-01 00:00:00

abstract：:The clinical phenotype of multiple acyl-CoA dehydrogenase deficiency in infancy is characterized by recurrent episodes of hypoketotic hypoglycemia and lipid storage myopathy. Brain damage has been described only as a consequence of severe and protracted hypoglycemia. We describe a child who experienced normal physical...

journal_title：Pediatric neurology

authors： Uziel G,Garavaglia B,Ciceri E,Moroni I,Rimoldi M

更新日期：1995-11-01 00:00:00

abstract：:A boy presented with hypertension, seizures, lethargy, headache, and occipital blindness. He improved with antihypertensive therapy. Other reported children with a similar distinctive clinical condition are compared with adults with a syndrome termed reversible posterior leukoencephalopathy. Because both gray and whit...

journal_title：Pediatric neurology

authors： Pavlakis SG,Frank Y,Kalina P,Chandra M,Lu D

更新日期：1997-02-01 00:00:00

abstract：:We used two strategies to investigate a possible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene. The first entailed performing electroencephalography on 14 patients with an amplification in the fragile X mental retardation-1 gene, and the second involved molecular gen...

journal_title：Pediatric neurology

authors： Kluger G,Böhm I,Laub MC,Waldenmaier C

更新日期：1996-11-01 00:00:00

abstract：INTRODUCTION:Glucose transporter type 1 deficiency syndrome is a metabolic encephalopathy that results from impaired glucose transport into the brain as the result of a mutation of the SLC2A1 gene. It has been recognized recently that these patients can present with a much broader clinical spectrum than previously thou...

journal_title：Pediatric neurology

authors： Ohshiro-Sasaki A,Shimbo H,Takano K,Wada T,Osaka H

更新日期：2014-01-01 00:00:00

abstract：:We investigate the incidence of torticollis associated with neonatal brachial plexus palsy, whether the severity of brachial plexus palsy affects outcomes and the rate of recovery. We performed a retrospective review of 128 consecutive neonatal brachial plexus palsy patients evaluated at the University of Michigan fro...

journal_title：Pediatric neurology

authors： Hervey-Jumper SL,Justice D,Vanaman MM,Nelson VS,Yang LJ

更新日期：2011-11-01 00:00:00

abstract：:An 8-year-old Japanese boy had Sakoda complex (basal encephalomeningocele, agenesis of the corpus callosum, and cleft lip and/or palate) associated with bilateral anophthalmia, dysgenesis of the cerebral cortex, severe mental retardation, and intractable epilepsy as core symptoms and hemiparesis, microcephalus, short ...

journal_title：Pediatric neurology

authors： Ehara H,Kurimasa A,Ohno K,Takeshita K

更新日期：1998-05-01 00:00:00

abstract：:We describe eight cases of pediatric patients whose neuroimages performed after seizures revealed abnormalities that were compatible with edema surrounding calcified lesions and which disappeared in subsequent examinations. ...

journal_title：Pediatric neurology

authors： Antoniuk SA,Bruck I,Dos Santos LH,Pintarelli VL,Navolar FB,Brackmann PC Jr,de Morais RL

更新日期：2001-10-01 00:00:00

abstract：:Neurons must respond to a bewildering array of external and internal stimuli and must distinguish among them to generate an appropriate response or change in metabolic or electrical activity. Furthermore, the response of a cell to a given stimulus must depend on what else is happening inside and outside the cell at th...

journal_title：Pediatric neurology

authors： Schor NF

更新日期：2001-11-01 00:00:00

abstract：:Although valproic acid (VPA) is used to treat infantile spasms, VPA's efficacy in infantile spasms has not been determined in a controlled study. This study evaluated the effect of VPA on infantile spasms in patients who had not responded to adrenocorticotropin (ACTH) and corticosteroid therapy. The hypotheses were te...

journal_title：Pediatric neurology

authors： Dyken PR,DuRant RH,Minden DB,King DW

更新日期：1985-01-01 00:00:00

abstract：:A male adolescent developed a sinovenous thrombosis 4 weeks following a Henoch-Schonlein purpura episode. A hypercoagulation evaluation revealed a positive lupus anticoagulant. This suggests an association between Henoch-Schonlein purpura and antiphospholipid antibody syndrome and is the first report of sinovenous thr...

journal_title：Pediatric neurology

authors： Abend NS,Licht DJ,Spencer CH

更新日期：2007-05-01 00:00:00

abstract：:A wide cavum septum pellucidum defined as a separation of greater than 1 cm of the leaves occurs uncommonly. Nine children with wide cavum septum pellucidum were studied; 8 were abnormal. Observed abnormalities included cognitive impairment (8), seizures (4), hypoplasia of the corpus callosum (4), optic nerve hypoplas...

journal_title：Pediatric neurology

authors： Bodensteiner JB,Schaefer GB

更新日期：1990-11-01 00:00:00

abstract：:Pseudotumor cerebri is a clinical syndrome characterized by increased intracranial pressure in the absence of an intracranial tumor. It is most frequently diagnosed in obese young women, but it is also reported in children of all age groups, including infants. A variety of medical conditions have been suggested as pos...

journal_title：Pediatric neurology

authors： Keren T,Lahat E

更新日期：1998-08-01 00:00:00

abstract：:A male with developmental dysphasia is documented with fine motor dysfunction whose improvement in expressive language was associated with increased cerebellar perfusion, as detected by serial N-isopropyl-p-[iodine-123] iodoamphetamine single photon emission computed tomography (SPECT). His expressive language has bee...

journal_title：Pediatric neurology

authors： Oki J,Takahashi S,Miyamoto A,Tachibana Y

更新日期：1999-10-01 00:00:00

abstract：:Fifteen children, 8 months of age or older, from a neonatal follow-up program underwent magnetic resonance imaging and neurologic, cognitive, and language evaluations. Magnetic resonance imaging findings in all children included increased white matter signal on T2-weighted images and ventricular enlargement adjacent t...

journal_title：Pediatric neurology

authors： Feldman HM,Scher MS,Kemp SS

更新日期：1990-09-01 00:00:00

abstract：BACKGROUND:Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS:Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness fr...

journal_title：Pediatric neurology

authors： Rocha J,Taipa R,Melo Pires M,Oliveira J,Santos R,Santos M

更新日期：2014-08-01 00:00:00

abstract：:Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus. To find phenotype/genotype correlations, we reviewed all published c...

journal_title：Pediatric neurology

authors： Ceulemans BP,Claes LR,Lagae LG

更新日期：2004-04-01 00:00:00

abstract：:The effects of vagal nerve stimulation on sleep-related breathing have not been well-described in children. Vagal nerve stimulation was reported to cause decreases in airflow during sleep, although most studies reported this condition to be clinically insignificant. We present a retrospective case series of nine child...

journal_title：Pediatric neurology

authors： Hsieh T,Chen M,McAfee A,Kifle Y

更新日期：2008-02-01 00:00:00

abstract：OBJECTIVE:We present a child with Rasmussen encephalitis and highlight the pitfalls of diagnosis when magnetic resonance imaging (MRI) is negative for atrophy. We review the literature regarding this issue, introduce the FreeSurfer software as a potential means of noninvasive diagnosis, and discuss methods for prompt a...

journal_title：Pediatric neurology

authors： Holec M,Nagahama Y,Kovach C,Joshi C

更新日期：2016-06-01 00:00:00

abstract：BACKGROUND:Concern exists regarding a possible harmful impact of vacuum extraction on the preterm newborn. We aimed to evaluate the long-term pediatric neurodevelopmental outcomes of the preterm offspring after vacuum extraction. METHODS:A population-based cohort analysis was performed comparing the risk for long-term...

journal_title：Pediatric neurology

authors： Schwarzman P,Sheiner E,Wainstock T,Mastrolia SA,Segal I,Landau D,Walfisch A

更新日期：2019-05-01 00:00:00

abstract：:Nocturnal frontal-lobe epilepsy is characterized by paroxysmal arousals, motor seizures with dystonic or hyperkinetic features, and episodic nocturnal wanderings. Carbamazepine is effective for seizure control in some of these patients, but seizures may be refractory to multiple antiepileptic drugs. We report on eight...

journal_title：Pediatric neurology

authors： Raju GP,Sarco DP,Poduri A,Riviello JJ,Bergin AM,Takeoka M

更新日期：2007-11-01 00:00:00