Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

abstract：:High-functioning adolescents and young adults with mitochondrial disease are now attempting transitions to postsecondary environments. This pilot and case study explores factors that interfere with their successful transition through behavior-rating scales addressing academic skills and behavior. In the Behavior Asses...

journal_title：Journal of child neurology

authors： Schreiber H

更新日期：2012-12-01 00:00:00

abstract：:Little is known about psychiatric aspects of pediatric demyelinating conditions. A total of 23 youths (6-17 years) with demyelinating conditions underwent semistructured psychiatric interviews using the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version. Adolescents...

journal_title：Journal of child neurology

authors： Weisbrot DM,Ettinger AB,Gadow KD,Belman AL,MacAllister WS,Milazzo M,Reed ML,Serrano D,Krupp LB

更新日期：2010-02-01 00:00:00

abstract：:A 10-year-old boy with tuberous sclerosis complex and macrodactyly of the right index and middle fingers is described. He also had a fibrous hamartoma at the front of the right wrist. The association of fibrous hamartoma and macrodactyly has not been previously described in tuberous sclerosis complex. ...

journal_title：Journal of child neurology

authors： Sharma S,Sankhyan N,Gulati S,Kumar A,Srinivas M,Shukla B,Mathur SR

更新日期：2011-01-01 00:00:00

abstract：:A subset of inattentive children have an underlying problem in sustaining wakefulness ("vigilance"). This disorder of vigilance, termed Weinberg's syndrome, is characterized by difficulty in maintaining wakefulness and alertness as evidenced by (among other symptoms) motor restlessness (fidgeting and moving about, yaw...

journal_title：Journal of child neurology

authors： Brumback RA

更新日期：2000-07-01 00:00:00

abstract：:Ketogenic therapy is now an accepted treatment for pediatric and adult patients with medically refractory epilepsy.1-3 However, young adults treated with a ketogenic diet face unique challenges when transitioning to adult neurology providers.4 The variable acceptance of dietary therapy, paucity of nutritionists and ad...

journal_title：Journal of child neurology

authors： Seaborg K,Wang X,Olson C,Felton EA

更新日期：2020-11-01 00:00:00

abstract：:Twelve living patients (aged 19 months to 32 years) with aspartylglucosaminuria were examined by magnetic resonance imaging (MRI), and the magnetic resonance (MR) images of 16 health volunteers (aged 4 to 32 years) were used as controls. One patient was examined twice. Postmortem MRI and histopathologic analysis were ...

journal_title：Journal of child neurology

authors： Autti T,Raininko R,Haltia M,Lauronen L,Vanhanen SL,Salonen O,Aronen HJ,Wirtavuori K,Santavuori P

更新日期：1997-09-01 00:00:00

abstract：:Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain. Case 2 shows loss of sensation, mental retardat...

journal_title：Journal of child neurology

authors： Koy A,Freynhagen R,Mayatepek E,Tibussek D

更新日期：2012-02-01 00:00:00

abstract：:This is the first study to evaluate the efficacy of riboflavin for migraine prophylaxis in children. This was a randomized, double-blind study of riboflavin (200 mg daily) versus placebo in 48 children. The primary efficacy measure was the number of patients achieving a 50% or greater reduction in the number of migrai...

journal_title：Journal of child neurology

authors： MacLennan SC,Wade FM,Forrest KM,Ratanayake PD,Fagan E,Antony J

更新日期：2008-11-01 00:00:00

abstract：:Although much attention has been focused on the neurological sequelae of the hereditary ataxias, patients with these conditions also may develop cardiac complications that represent a significant cause of disability and even death. In this article, the authors describe the hereditary ataxias with known cardiac involve...

journal_title：Journal of child neurology

authors： Moore S,Raman SV

更新日期：2012-09-01 00:00:00

abstract：:Extensive optic nerve demyelinating lesions on magnetic resonance imaging (MRI) in adults could indicate a diagnosis other than multiple sclerosis with worse prognosis such as neuromyelitis optica. We report the frequency of longitudinally extensive lesions in children with first events of optic neuritis. Subjects had...

journal_title：Journal of child neurology

authors： Graves J,Kraus V,Soares BP,Hess CP,Waubant E

更新日期：2015-01-01 00:00:00

abstract：:This study explored verbal, visual, motor, and tactile humor appreciation and comprehension among preschool children with epilepsy as compared with healthy children. Participants included 32 children with focal epilepsy, as well as 70 healthy controls. The results suggest that children with epilepsy assess humor dicho...

journal_title：Journal of child neurology

authors： Suits K,Tulviste T,Ong R,Tulviste J,Kolk A

更新日期：2012-03-01 00:00:00

abstract：:We reviewed cranial sonographic studies done on 108 normal newborn infants to determine the prevalence and variability in size of the cavum septi pellucidi (CSP). Infants were classified according to gestational age by 2-week intervals. At 24 weeks, only four normal scans were identified. Between 26 and 34 weeks, ten ...

journal_title：Journal of child neurology

authors： Mott SH,Bodensteiner JB,Allan WC

更新日期：1992-01-01 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：:A variety of endocrine and metabolic defects, including hypothalamopituitary hypofunction and diabetes mellitus, has been reported in association with mitochondrial disorders. We describe two sisters affected by mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome in whom DNA anal...

journal_title：Journal of child neurology

authors： Balestri P,Grosso S

更新日期：2000-11-01 00:00:00

abstract：INTRODUCTION:Since its creation, patients on ketogenic diet are told to avoid liquid medications due to theoretical concerns of "hidden" carbohydrates. However, switching from liquid to tablet formulations can be problematic, especially for infants and young children. We theorized that increasing the daily ketogenic ra...

journal_title：Journal of child neurology

authors： Haney CA,Charpentier A,Turner Z,Bessone SK,Doerrer SC,Kossoff EH

更新日期：2019-06-01 00:00:00

abstract：:Fifty cases of postinfectious encephalomyelitis admitted to our Pediatric Department during the period 1980 to 1997 were consecutively collected and reviewed. There were 28 males and 22 females. The age of onset ranged from 9 months to 14 years. The antecedent infections included measles (6 cases), rubella (5 cases), ...

journal_title：Journal of child neurology

authors： Hung KL,Liao HT,Tsai ML

更新日期：2000-10-01 00:00:00

abstract：:Recently, a new disease entity has been defined: the disease of vanishing white matter. This leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or biochemical marker is known. We studied cerebrospinal fluid amino acids in five patients with the disease and found a consistent, moderate elevati...

journal_title：Journal of child neurology

authors： van der Knaap MS,Wevers RA,Kure S,Gabreëls FJ,Verhoeven NM,van Raaij-Selten B,Jaeken J

更新日期：1999-11-01 00:00:00

abstract：OBJECTIVES:The objectives were to investigate the relationship between ketogenic diet therapy and neutropenia in children with epilepsy. METHODS:A retrospective chart review of children who initiated ketogenic diet at the Hospital for Sick Children between January 1, 2000, and May 1, 2018 was performed. Factors associ...

journal_title：Journal of child neurology

authors： Munro K,Keller AE,Lowe H,Ferrara E,Whitney R,Liu CYM,Zak M,Chan V,Kobayashi J,Donner EJ

更新日期：2021-01-04 00:00:00

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：:Brain tissue from three patients with a clinical diagnosis of Reye syndrome was compared with tissue from three control patients. All Reye syndrome patients demonstrated cytotoxic cerebral edema, with swelling of astrocyte foot processes, which was not seen in controls. Myelin sheath splitting was seen both in control...

journal_title：Journal of child neurology

authors： Blisard KS,Davis LE

更新日期：1991-01-01 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 with neurodevelopmental disorders are at increased risk for sleep issues, which affect quality of life, cognitive function, and behavior. To determine the prevalence of sleep problems in children with the common neurodevelopmental disorder neurofibromatosis type 1, a cross-sectional study was performed on 129...

journal_title：Journal of child neurology

authors： Licis AK,Vallorani A,Gao F,Chen C,Lenox J,Yamada KA,Duntley SP,Gutmann DH

更新日期：2013-11-01 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：:Current guidelines permitting return to play for athletes who have sustained a concussion rely on resolution of cognitive and physical symptoms. Evolving evidence suggest that vascular, radiologic and cerebral metabolic abnormalities persist in some athletes beyond the period of clinical recovery. This commentary addr...

journal_title：Journal of child neurology

authors： McAbee GN

更新日期：2018-10-01 00:00:00

abstract：:Patients with partial seizures aged 1 week to 19 years (n = 175) were included in several prospective vigabatrin studies at the hospital Saint Vincent de Paul. A decrease in seizure frequency of over 50% was achieved in 70% of patients, with 30% becoming seizure free, and only 6% experiencing an increase. Tuberous scl...

journal_title：Journal of child neurology

authors： Nabbout RC,Chiron C,Mumford J,Dumas C,Dulac O

更新日期：1997-04-01 00:00:00

abstract：:Acute transverse myelitis is a clinical syndrome affecting the spinal cord, which is characterized by acute onset of motor, sensory, and autonomic dysfunction. Approximately 20% of cases of acute transverse myelitis occur in children. This review summarizes the current published literature on acute transverse myelitis...

journal_title：Journal of child neurology

authors： Wolf VL,Lupo PJ,Lotze TE

更新日期：2012-11-01 00:00:00

abstract：:Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of mitochondrial DNA, the reverse ...

journal_title：Journal of child neurology

authors： Orcesi S,Gorni K,Termine C,Uggetti C,Veggiotti P,Carrara F,Zeviani M,Berardinelli A,Lanzi G

更新日期：2006-01-01 00:00:00

abstract：:Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) 677C>T mutation (MTHFR TT) has been linked to an increased risk for stroke, coronary artery disease, and migraine headaches. The authors analyzed the potential link between MTHFR 677C>T homozygosity and childhood stroke. A true association might facilita...

journal_title：Journal of child neurology

authors： Alsayouf H,Zamel KM,Heyer GL,Khuhro AL,Kahwash SB,de los Reyes EC

更新日期：2011-03-01 00:00:00

abstract：:Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a da...

journal_title：Journal of child neurology

authors： John B,Klemm E,Haverkamp F

更新日期：2000-12-01 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