Myalgia and cramps: dystrophinopathy with wide-ranging laboratory findings.

abstract：OBJECTIVE:To analyze the available literature on papilledema in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), report the first detailed pediatric case, and explore the underlying pathophysiology. METHODS:First, we conducted a comprehensive literature review of all cases of papilledema in CIDP. Next...

journal_title：Journal of child neurology

authors： Abrams AW,Sah JP,Pavlakis SG

更新日期：2020-09-01 00:00:00

abstract：:Cytomegalovirus lumbosacral polyradiculopathy is a well-documented complication of human immunodeficiency virus in adults who have a CD4 count of less than 40/microL. Patients present with an acute ascending flaccid paralysis of the lower limbs with areflexia, paresthesia, and urinary and bowel symptoms. However, it a...

journal_title：Journal of child neurology

authors： Sohal A,Riordan A,Mallewa M,Solomon T,Kneen R

更新日期：2009-02-01 00:00:00

abstract：:Acquired toxoplasmosis, although relatively common in children, is usually asymptomatic but can also be clinically manifested by a benign and self-limited infectious mononucleosis-like syndrome. Neurological complications are very rare in immunocompetent children. The authors report a 5-year-old boy who presented with...

journal_title：Journal of child neurology

authors： Galli-Tsinopoulou A,Kyrgios I,Giannopoulou EZ,Gourgoulia S,Maggana I,Katechaki E,Chatzidimitriou D,Evangeliou AE

更新日期：2010-12-01 00:00:00

abstract：:Two boys, aged 7 and 12 years, with nondominant (right) hemispheric acquired vascular lesions and left visual-field disturbances had right spatial constructional disabilities, contralateral to that which would be expected. These unusual disturbances may represent the previously unreported phenomena of ipsilateral negl...

journal_title：Journal of child neurology

authors： Lewis DW,Geller T

更新日期：1994-01-01 00:00:00

abstract：:Mutations in MECP2 gene are the primary cause of Rett syndrome, a neurodevelopmental disorder that primarily affects girls, and affect 90% to 95% patients with classical Rett syndrome. MECP2 mutations, once thought to be lethal in males, now present a broad spectrum of clinical manifestations in males. This article re...

journal_title：Journal of child neurology

authors： Khajuria R,Gupta N,Sapra S,Gulati S,Ghosh M,Kalra V,Kabra M

更新日期：2011-02-01 00:00:00

abstract：:We sent questionnaires concerning the current therapy for West syndrome to 208 institutions at which pediatric care members of the Japan Epilepsy Society were working. Of these, 129 (62%) institutions responded. Vitamin B6 was the preferred first-line drug, followed by the combination of vitamin B6 and valproate or mo...

journal_title：Journal of child neurology

authors： Ito M,Seki T,Takuma Y

更新日期：2000-06-01 00:00:00

abstract：:Congenital myasthenic syndromes are inherited disorders caused by various defects in neuromuscular transmission. Although the typical presentation is fatigable weakness with prominent cranial involvement, neonates can lack these hallmark manifestations, and in those with choline acetyltransferase gene mutations, basal...

journal_title：Journal of child neurology

authors： Dilena R,Abicht A,Sergi P,Comi GP,Di Fonzo A,Chidini G,Natacci F,Barbieri S,Lochmüller H

更新日期：2014-03-01 00:00:00

abstract：:Visual electrophysiological techniques represent excellent means for assessing retinal, optic pathways and visual cortex function. Electroretinograms, visual evoked potentials, and clinical records of 17 patients with mucopolysaccharidosis registered in the neurophysiological database of our institution were reviewed ...

journal_title：Journal of child neurology

authors： Suppiej A,Rampazzo A,Cappellari A,Traverso A,Tormene AP,Pinello L,Scarpa M

更新日期：2013-10-01 00:00:00

abstract：:Patients with refractory seizures, including those with Sturge-Weber syndrome, undergo functional studies in preparation for surgery. Perfusion studies in Sturge-Weber syndrome by single photon emission computed tomography and positron emission tomography generally demonstrate hypoperfusion in the diseased tissue. We ...

journal_title：Journal of child neurology

authors： Oguz KK,Senturk S,Ozturk A,Anlar B,Topcu M,Cila A

更新日期：2007-05-01 00:00:00

abstract：:The acquired alexia with agraphia syndrome is a conspicuous disorder of reading and writing in the absence of significant other language impairments that has mainly been recorded in adults. Pure cases are rare, with most patients displaying mild aphasic deficits. In children, acquired reading and writing disorders are...

journal_title：Journal of child neurology

authors： Paquier PF,De Smet HJ,Mariën P,Poznanski N,Van Bogaert P

更新日期：2006-04-01 00:00:00

abstract：:Pediatric headache patients often experience significant sleep disturbance, which may be a risk factor for poor physical, academic, and emotional functioning, including increased anxiety/fear. The current retrospective cohort study of a clinical sample of youth with persistent headache aimed to examine the impact of s...

journal_title：Journal of child neurology

authors： Clementi MA,Chang YH,Gambhir R,Lebel A,Logan DE

更新日期：2020-03-01 00:00:00

abstract：:The objective of this study was to determine the impact of migraine headaches on health-related quality of life among Canadian adolescents. The Canadian Community Health Survey (CCHS) collects information related to health status, health care utilization, and health determinants for the Canadian population. Analysis w...

journal_title：Journal of child neurology

authors： Brna P,Gordon K,Dooley J

更新日期：2008-01-01 00:00:00

abstract：:Our experience with two children with Joubert syndrome demonstrates how the diagnosis, if suspected by recognition of the behavioral phenotype, can rapidly be made by employing cranial sonography. This technique also may afford prenatal diagnosis of the syndrome in future siblings of confirmed cases. We have produced ...

journal_title：Journal of child neurology

authors： Edwards BO Jr,Fischer AQ,Flannery DB

更新日期：1988-10-01 00:00:00

abstract：:Subacute sclerosing panencephalitis (SSPE) typically presents with progressive mental deterioration, behavioral changes, and myoclonic jerks. Atypical presentations are not unknown and may result in diagnostic delays. A 9-year-old girl presented with poor balance and ataxia following an episode of upper respiratory tr...

journal_title：Journal of child neurology

authors： Goraya J,Marks H,Khurana D,Legido A,Melvin J

更新日期：2009-07-01 00:00:00

abstract：:Understanding patterns of medical comorbidity in attention-deficit/hyperactivity disorder (ADHD) may lead to better treatment of affected individuals as well as aid in etiologic study of disease. This article provides the first systematic evaluation on the medical comorbidity of ADHD in a nationally representative sam...

journal_title：Journal of child neurology

authors： Jameson ND,Sheppard BK,Lateef TM,Vande Voort JL,He JP,Merikangas KR

更新日期：2016-10-01 00:00:00

abstract：:Attention Deficit Hyperactivity Disorder (ADHD) is associated with altered cerebellar volume and cerebellum is associated with cognitive performance. However there are mixed results regarding the cerebellar volume in young patients with ADHD. To clarify the size and direction of this effect, we conducted the analysis ...

journal_title：Journal of child neurology

authors： Wyciszkiewicz A,Pawlak MA,Krawiec K

更新日期：2017-02-01 00:00:00

abstract：:Outcome measures should include the patient's values and preferences (from the patient's perspective) in addition to performance ratings and physiologic states. Outcome measures can assess relationships between services and interventions and their end results, can clarify which therapies are worth providing and which ...

journal_title：Journal of child neurology

authors： Ronen GM,Rosenbaum MP,Streiner DL

更新日期：2000-12-01 00:00:00

abstract：:Children and adolescents with the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) diagnosis of attention-deficit hyperactivity disorder (ADHD) can have comorbid conditions such as conduct disorder, oppositional defiant disorder, and obsessive-compulsive disorder (comorbid type). The purpose of our st...

journal_title：Journal of child neurology

authors： Lorberboym M,Watemberg N,Nissenkorn A,Nir B,Lerman-Sagie T

更新日期：2004-02-01 00:00:00

abstract：:Making an accurate diagnosis is the first and most critical step in the treatment of pediatric epilepsy, but it can be a daunting challenge for clinicians. Seizure types and syndromes in infants and very young children do not present with the same clarity and consistency as in adults. Work is currently being done to r...

journal_title：Journal of child neurology

authors： Nordli DR Jr

更新日期：2002-01-01 00:00:00

abstract：:We investigated familial and environmental risk factors in a cohort of South African children diagnosed with attention-deficit hyperactivity disorder (ADHD). A prospective, hospital-based case control study was conducted comprising 50 children diagnosed with ADHD and 50 matched non-ADHD controls. The adjusted effect o...

journal_title：Journal of child neurology

authors： van Dyk L,Springer P,Kidd M,Steyn N,Solomons R,van Toorn R

更新日期：2015-09-01 00:00:00

abstract：:A 15-month-old girl demonstrated progressive weakness in all limbs. Magnetic resonance imaging (MRI) on admission revealed (1) diffuse and symmetric cervical cord swelling, (2) diffuse decrease and increase in signal intensity within the affected cord on T1- and T2-weighted images, respectively, (3) preserved anatomic...

journal_title：Journal of child neurology

authors： Yamamoto K,Nakagawa H,Kato S,Abe J,Inoue S,Shibuya H

更新日期：1992-04-01 00:00:00

abstract：:To further delineate the clinical and developmental features of Angelman syndrome, we collected data through three sources of information: (1) physical examinations; (2) laboratory data and family questionnaire data of affected individuals; and (3) literature review. The questionnaire data describes a generally normal...

journal_title：Journal of child neurology

authors： Zori RT,Hendrickson J,Woolven S,Whidden EM,Gray B,Williams CA

更新日期：1992-07-01 00:00:00

abstract：:Glucose metabolism of children with drug-resistant epilepsy, controlled by antiepileptic drugs epilepsy, and first-time nonfebrile seizures was studied through the performance of an oral glucose tolerance test and through insulin, C-peptide, and glycosylated hemoglobin measurements. In the refractory epilepsy group, t...

journal_title：Journal of child neurology

authors： Varlamis S,Vavatsi N,Pavlou E,Kotsis V,Spilioti M,Kavga M,Varlamis G,Sotiriadou F,Agakidou E,Voutoufianakis S,Evangeliou AE

更新日期：2013-11-01 00:00:00

abstract：:We report two children with transient myasthenia gravis preceded by viral illnesses. The first is a 5-year-old boy who developed oculobulbar weakness 2 weeks following a varicella-zoster infection. The second is a 4-year-old boy who developed facial diplegia and dysarthria several weeks following a viral pharyngitis. ...

journal_title：Journal of child neurology

authors： Felice KJ,DiMario FJ,Conway SR

更新日期：2005-05-01 00:00:00

abstract：:Febrile seizures are the most common form of childhood seizures. The exact mechanism promoting convulsions during a common febrile illness remains unknown, but it is accepted that genetic influences are likely to account for at least some of the cases. Previous studies reported high interleukin-1beta levels in the cer...

journal_title：Journal of child neurology

authors： Haspolat S,Baysal Y,Duman O,Coşkun M,Tosun O,Yeğin O

更新日期：2005-07-01 00:00:00

abstract：:The purpose of this study was to determine whether children with epilepsy undergoing valproate therapy and who are otherwise healthy have lower levels of serum and muscle carnitine. A total of 50 patients with epilepsy, 3 to 14 years of age, who were treated solely with valproate and free of abnormal neurologic findin...

journal_title：Journal of child neurology

authors： Anil M,Helvaci M,Ozbal E,Kalenderer O,Anil AB,Dilek M

更新日期：2009-01-01 00:00:00

abstract：:Cardiomyopathy is a leading cause of death in patients with Duchenne muscular dystrophy. Congestive heart failure is often sub-clinical and unrecognized as a result of the severe physical limitations of this patient population. We report the case of a 16-year-old boy with Duchenne muscular dystrophy who demonstrated n...

journal_title：Journal of child neurology

authors： Wong BL,Mukkada VA,Markham LW,Cripe LH

更新日期：2005-03-01 00:00:00

abstract：:Mitochondrial medicine provides a metabolic perspective on the pathology of conditions linked with inadequate oxidative phosphorylation. Dysfunction in the mitochondrial machinery can result in improper energy production, leading to cellular injury or even apoptosis. Clinical presentations are often subtle, so clinici...

journal_title：Journal of child neurology

authors： Thornton B,Cohen B,Copeland W,Maria BL

更新日期：2014-09-01 00:00:00

abstract：:Four unrelated infants with neonatal thrombocytopenia associated with congenital blindness and porencephaly have been seen over an 18-year period. The association of congenital blindness with neonatal thrombocytopenia has not previously been reported. All children had clinical purpura in the neonatal period; in three ...

journal_title：Journal of child neurology

authors： Manson J,Speed I,Abbott K,Crompton J

更新日期：1988-04-01 00:00:00

abstract：:The authors describe a pediatric patient with repaired hypoplastic left heart syndrome developing protein-losing enteropathy, hypocalcemia, vitamin D deficiency, and hemichorea. After correction of nutritional vitamin D deficiency with calcium and vitamin D supplementation, the chorea resolved. Hypoalbuminemia also im...

journal_title：Journal of child neurology

authors： Fernandez R,Ashraf A,Dure LS

更新日期：2007-01-01 00:00:00