Quantitative histological study of the sural nerve in a child with acid maltase deficiency (glycogenosis type II).

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 finding correlated with the motor conduction velocity which was within normal limits for his age. A striking feature was the accumulation of glycogen particles in Schwann cells of both myelinated and unmyelinated nerve fibers. The accumulation of glycogen particles was more prominent in Schwann cells of myelinated nerve fibers than in those of unmyelinated ones. The reason for this finding is unclear. The accumulation of glycogen particles in nerve fibers was less than that found in muscle fibers. These morphologic differences between muscle and peripheral nerve fibers may represent an intrinsic difference between the two tissues; glycogen turnover may be faster in muscle than in nerve cells.

journal_name

Pediatr Neurol

journal_title

Pediatric neurology

authors

Origuchi Y,Itai Y,Matsumoto S,Matsuishi T

doi

10.1016/0887-8994(86)90075-5

subject

Has Abstract

pub_date

1986-11-01 00:00:00

pages

346-9

issue

6

eissn

0887-8994

issn

1873-5150

pii

0887-8994(86)90075-5

journal_volume

2

pub_type

杂志文章
  • Neuropathology of two fatal cases of measles in the 1988-1989 Houston epidemic.

    abstract::The clinical course and autopsy findings of 2 patients with measles encephalitis that occurred during the 1988-1989 Houston epidemic are reported. A previously healthy 25-month-old boy had serologically-proved measles, hemophagocytic syndrome, and acute disseminated demyelinating encephalitis. A 19-year-old male with ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/0887-8994(90)90046-4

    authors: Pearl PL,Abu-Farsakh H,Starke JR,Dreyer Z,Louis PT,Kirkpatrick JB

    更新日期:1990-03-01 00:00:00

  • Kawasaki disease with predominant central nervous system involvement.

    abstract::A 4-year-old female was hospitalized with clinical and electroencephalographic evidence of acute encephalopathy. Five days later the classic signs of Kawasaki disease appeared. The neurologic outcome in this female was poor despite early treatment with immunoglobulin. Like many other vasculitidies, Kawasaki disease ca...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(01)00290-9

    authors: Tabarki B,Mahdhaoui A,Selmi H,Yacoub M,Essoussi AS

    更新日期:2001-09-01 00:00:00

  • Oxcarbazepine in children with nocturnal frontal-lobe epilepsy.

    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

    pub_type: 临床试验,杂志文章

    doi:10.1016/j.pediatrneurol.2007.06.013

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

    更新日期:2007-11-01 00:00:00

  • Efficacy of lamotrigine and vigabatrin in drug-resistant epilepsies of childhood.

    abstract::It was the purpose of this study to compare the efficacy and side effects of lamotrigine (LTG) and vigabatrin (VGB) as add-on therapy in epilepsies of childhood resistant to conventional drugs. Retrospective analysis of the medical charts and electroencephalograms of 134 children (LTG 57, VGB 77) was performed conside...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(99)00098-3

    authors: Dimova PS,Korinthenberg R

    更新日期:1999-11-01 00:00:00

  • The effect of topiramate on body weight and ghrelin, leptin, and neuropeptide-Y levels of prepubertal children with epilepsy.

    abstract:BACKGROUND:Weight loss is one of the most frequent side effects of topiramate treatment. The aim of our study was to investigate the effect of topiramate on body mass index, serum glucose, insulin, cortisol, leptin, and neuropeptide-Y levels and the role of these variables on the pathogenesis of weight loss in prepuber...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2014.05.001

    authors: Ozcelik AA,Serdaroglu A,Bideci A,Arhan E,Soysal Ş,Demir E,Gücüyener K

    更新日期:2014-08-01 00:00:00

  • Leukoencephalopathy around a tumor cyst following intracystic methotrexate injection.

    abstract::A 4-year-old female with choroid plexus carcinoma developed progressive disturbance of consciousness 2 years after postoperative treatment with radiotherapy, chemotherapy, and focal methotrexate injection into a residual tumor cyst. Magnetic resonance imaging revealed white matter lesions localized around the expandin...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2004.06.018

    authors: Yano T,Sawaishi Y,Hirayama A,Takaku I,Takada G

    更新日期:2005-01-01 00:00:00

  • Clinical Features of Complex Febrile Seizure Caused by Primary Human Herpesvirus 6B Infection.

    abstract:BACKGROUND:It is well known that febrile seizures are commonly occur in children with exanthem subitum. In this study, we compared the clinical features and backgrounds of patients with complex febrile seizures with and without primary human herpesvirus 6B infection. METHODS:Sixty-two patients were enrolled after expe...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2020.03.015

    authors: Miyake M,Kawamura Y,Hattori F,Miura H,Ishihara N,Yoshikawa T

    更新日期:2020-08-01 00:00:00

  • Quantitative follow-up analysis by computed tomographic imaging in neonatal hydrocephalus.

    abstract::We sought a simple and accurate method to monitor neonatal hydrocephalic infants using standard computed tomographic scans. Volume measurements were made by means of pixel counting using a personal computer and a drawing device, as a graphic tablet system, over computed tomographic scans of six infants with neonatal h...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(03)00401-6

    authors: Morimoto K,Nishikuni K,Hirano S,Takemoto O,Futagi Y

    更新日期:2003-11-01 00:00:00

  • Wide cavum septum pellucidum: a marker of disturbed brain development.

    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

    pub_type: 杂志文章

    doi:10.1016/0887-8994(90)90007-n

    authors: Bodensteiner JB,Schaefer GB

    更新日期:1990-11-01 00:00:00

  • Attitudes of medical students toward pediatric neurology.

    abstract::Planning strategies to encourage students to pursue a career in pediatric neurology requires assessment of their attitudes and career choices. A structured 30-item questionnaire was designed to examine students' attitudes toward pediatric neurology. In the study, 161 final-year medical students (1999-2000), 20-26 year...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(02)00386-7

    authors: Jan MM,Fida NM

    更新日期:2002-08-01 00:00:00

  • Suicide Screening in Sturge-Weber Syndrome: An Important Issue in Need of Further Study.

    abstract:BACKGROUND:Sturge-Weber syndrome is a neurocutaneous disorder associated with epilepsy, glaucoma, cognitive impairments, and a port-wine birthmark. Although individuals with Sturge-Weber syndrome are vulnerable to known risk factors for suicide, including chronic illness and physical differences (port-wine birthmark), ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2020.03.013

    authors: Sebold AJ,Ahmed AS,Ryan TC,Cohen BA,Jampel HD,Suskauer SJ,Zabel TA,Comi AM,Rybczynski S

    更新日期:2020-09-01 00:00:00

  • Rectal diazepam gel in the home management of seizures in children.

    abstract::This study assessed the utility of rectal diazepam gel in the home management of prolonged or repetitive seizures in children. Thirty-eight children being prescribed rectal diazepam gel by their clinician were prospectively recruited. Seizures, rectal diazepam use, emergency department visits, and quality of life data...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2005.03.005

    authors: O'Dell C,Shinnar S,Ballaban-Gil KR,Hornick M,Sigalova M,Kang H,Moshé SL

    更新日期:2005-09-01 00:00:00

  • Spontaneous intracerebral hematomas in juvenile diabetic ketoacidosis.

    abstract::Ketoacidosis is one of the common complications of Type I insulin-dependent diabetes mellitus. Several neurologic (cerebral) deficiencies have been associated with diabetic ketoacidosis, including cerebral edema with increased intracranial pressure resulting in coma; partial and generalized seizures; and cerebrovascul...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/0887-8994(86)90011-1

    authors: Atluru VL

    更新日期:1986-05-01 00:00:00

  • Quality of Life in Children With Sturge-Weber Syndrome.

    abstract:AIM:We assessed the utilization of the National Institutes of Health Quality of Life in Neurological Disorders (Neuro-QoL) in pediatric patients with Sturge-Weber syndrome, a rare neurovascular disorder which frequently results in seizures, brain atrophy, calcification, and a range of neurological impairments. METHODS...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2019.04.004

    authors: Harmon KA,Day AM,Hammill AM,Pinto AL,McCulloch CE,Comi AM,National Institutes of Health Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group.

    更新日期:2019-12-01 00:00:00

  • Acute disseminated encephalomyelitis after Japanese B encephalitis vaccination.

    abstract::A 6-year-old girl (Patient 1) and a 5-year-old boy (Patient 2) with acute disseminated encephalomyelitis after Japanese B encephalitis vaccination are reported. Drowsiness, paresthesias, and gait disturbance were observed at 14 days (Patient 1) and 17 days (Patient 2) after the vaccination; however, transient impairme...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/0887-8994(92)90036-x

    authors: Ohtaki E,Murakami Y,Komori H,Yamashita Y,Matsuishi T

    更新日期:1992-03-01 00:00:00

  • Acute parkinsonian syndrome with demyelinating leukoencephalopathy in bone marrow transplant recipients.

    abstract::A syndrome of rigidity, bradykinesia, spasticity, and often myoclonus and dementia developed acutely in 5 patients who had undergone successful engraftment of bone marrow transplants for the treatment of various hematologic diseases. Magnetic resonance imaging demonstrated widespread changes in white matter; brain bio...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/0887-8994(91)90031-f

    authors: Lockman LA,Sung JH,Krivit W

    更新日期:1991-11-01 00:00:00

  • Effect of treatment of obstructive sleep apnea on seizure outcomes in children with epilepsy.

    abstract::A retrospective review of children with epilepsy and obstructive sleep apnea, treated surgically for their obstructive sleep apnea from January 2008-October 2010, was performed for age, sex, type of epilepsy, antiseizure medications, sleep-study data, and changes in seizure frequency. Twenty-seven subjects (median age...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2012.03.005

    authors: Segal E,Vendrame M,Gregas M,Loddenkemper T,Kothare SV

    更新日期:2012-06-01 00:00:00

  • Pediatric tumefactive demyelination: case series and review of the literature.

    abstract::Tumefactive demyelinating lesions may be misdiagnosed as brain neoplasms or abscesses. In this paper, we present four cases of pediatric tumefactive demyelination. Twelve cases of pediatric tumefactive demyelination previously reported in the English literature are also summarized. We describe the neuroimaging charact...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审

    doi:10.1016/s0887-8994(01)00322-8

    authors: McAdam LC,Blaser SI,Banwell BL

    更新日期:2002-01-01 00:00:00

  • Rett syndrome: clinical and electrophysiologic aspects.

    abstract::Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. The clinical course as well as the electroencephalogram pattern are characteristic and have been correlated to the clinical stages of the disease. Sixty to 70 percent of the patients develop epilepsy. The aim of this retrospective ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2006.10.003

    authors: Moser SJ,Weber P,Lütschg J

    更新日期:2007-02-01 00:00:00

  • Duane retraction syndrome associated with Chiari I malformation.

    abstract::A 13-year-old girl who had Duane retraction syndrome associated with Chiari I malformation is reported. Neuro-ophthalmologic examination revealed severe limitation of abduction of the left eye, as well as narrowing of the palpebral fissure and retraction of the globe on adduction. Electro-oculography of the affected e...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/0887-8994(93)90075-n

    authors: Yamanouchi H,Iwasaki Y,Sugai K,Mukuno K

    更新日期:1993-07-01 00:00:00

  • Clinical Predictors of Attention and Executive Functioning Outcomes in Children After Perinatal Arterial Ischemic Stroke.

    abstract:BACKGROUND:Children with perinatal arterial ischemic stroke (PAIS) are at risk for later neurocognitive and behavioral deficits, yet the clinical predictors of these outcomes are understudied. We examined the influence of clinical and infarct characteristics on attention and executive functioning in children following ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2017.01.014

    authors: Bosenbark DD,Krivitzky L,Ichord R,Vossough A,Bhatia A,Jastrzab LE,Billinghurst L

    更新日期:2017-04-01 00:00:00

  • Intravenous immunoglobulin therapy in acute disseminated encephalomyelitis.

    abstract::Three children ranging in age from 2 to 5 years with acute disseminated encephalomyelitis (ADEM) were successfully treated with high-dose intravenous immunoglobulin (IVIG). Their symptoms were somnolence, fever, headache, vomiting, and resting tremor. In all of these patients, it was difficult to distinguish the condi...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(99)00042-9

    authors: Nishikawa M,Ichiyama T,Hayashi T,Ouchi K,Furukawa S

    更新日期:1999-08-01 00:00:00

  • Headache Hygiene in Pediatrics: Brushing Up on the Basics.

    abstract::Headache hygiene refers to self-management behaviors and practices aimed at reducing headache-related disability and improving self-efficacy. Although self-management interventions have an established place in the management of a wide range of chronic conditions, there is still not a standardized approach to this in p...

    journal_title:Pediatric neurology

    pub_type: 杂志文章,评审

    doi:10.1016/j.pediatrneurol.2019.10.002

    authors: Barmherzig R,Lagman-Bartolome AM,Marlowe S,Kohut SA,Gunn G,Olivieri H,Mulligan J,Grundy-Bozinis K,Gladstone J,Lay C,MacGregor D

    更新日期:2020-02-01 00:00:00

  • Clinical case of anti-N-methyl-D-aspartate receptor encephalitis in an 8-month-old patient with hyperkinetic movement disorder.

    abstract::This article describes an 8-month-old boy with the full clinical spectrum anti-N-methyl-d-aspartate receptor encephalitis. He was admitted to the hospital with involuntary orofacial head movements, behavioral changes, and fluctuation in consciousness. His examination showed tongue thrusting, decreased responsiveness, ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2012.12.032

    authors: Cantarín-Extremera V,Duat-Rodríguez A,González-Gutiérrez-Solana L,López-Marín L,Armangue T

    更新日期:2013-05-01 00:00:00

  • The diagnostic value of sensory evoked potentials in pediatric Wilson disease.

    abstract::We studied the sensory evoked potentials in pediatric Wilson disease to verify their subclinical neurologic involvement and to elucidate the role of cirrhosis in abnormal evoked potentials in non-neurologic Wilson disease. Thirty children (17 male, 13 female), diagnosed with Wilson disease before 18 years, were enroll...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/s0887-8994(03)00026-2

    authors: Hsu YS,Chang YC,Lee WT,Ni YH,Hsu HY,Chang MH

    更新日期:2003-07-01 00:00:00

  • Rapid cycling in severely multidisabled children: a form of bipolar affective disorder?

    abstract::A debilitating, regularly recurring, biphasic disorder is described in 6 severely multidisabled children. It was characterized by several days of lethargy, withdrawal, loss of abilities, irritability, and hypersomnolence followed or preceded by a high-energy state for several days during which the children slept very ...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/0887-8994(94)90064-7

    authors: Jan JE,Abroms IF,Freeman RD,Brown GM,Espezel H,Connolly MB

    更新日期:1994-02-01 00:00:00

  • Sensibility of the Hand in Children With Conservatively or Surgically Treated Upper Neonatal Brachial Plexus Lesion.

    abstract:BACKGROUND:The aim of this study was to assess the sensibility of the hand in children with a neonatal brachial plexus palsy (NBPP) involving the C5 and C6, and to correlate results with dexterity. METHODS:Fifty children with NBPP (30 after nerve surgery, mean age 9.8 years) and 25 healthy controls (mean age 9.6 years...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2018.04.006

    authors: Buitenhuis SM,Pondaag W,Wolterbeek R,Malessy MJA

    更新日期:2018-09-01 00:00:00

  • Schizencephaly: case report of familial incidence.

    abstract::Two half-siblings with schizencephaly are presented. They have the same mother who had a normal cerebral imaging study. Only one other kindred was found in which 2 siblings had this cerebral lesion. In the present patients, autosomal inheritance from the mother is possible, but other explanations should include famili...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/0887-8994(92)90039-2

    authors: Hosley MA,Abroms IF,Ragland RL

    更新日期:1992-03-01 00:00:00

  • Hashimoto's encephalopathy in children and adolescents.

    abstract::Hashimoto's encephalopathy is an underdiagnosed, steroid-responsive, progressive or relapsing encephalopathy associated with high titers of serum antithyroid antibodies. Although Hashimoto's encephalopathy is well documented in adults, it is rarely observed or studied in children and adolescents. We describe the clini...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2011.09.010

    authors: Erol I,Saygi S,Alehan F

    更新日期:2011-12-01 00:00:00

  • Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.

    abstract::Cerebral creatine transporter deficiency, attributable to mutations in the SLC6A8 gene, causes X-linked mental retardation, language delay, epilepsy, and autistic features. In contrast with creatine synthesis defects, the vast majority of patients with SLC6A8 deficiency do not respond to treatment. We describe a Portu...

    journal_title:Pediatric neurology

    pub_type: 杂志文章

    doi:10.1016/j.pediatrneurol.2011.10.005

    authors: Garcia P,Rodrigues F,Valongo C,Salomons GS,Diogo L

    更新日期:2012-01-01 00:00:00