Proton magnetic resonance spectroscopy and diffusion-weighted imaging in isolated sulfite oxidase deficiency.

abstract：BACKGROUND:Moyamoya disease is a rare cerebrovascular disease characterized by progressive stenosis of the bilateral distal internal carotid arteries and their proximal branches. Both chorea and dystonia have been reported as the initial presentation of moyamoya disease. OBJECTIVE:The objective was to define the clini...

journal_title：Journal of child neurology

authors： Greene S,Bansal L,Coffman KA,Nardone R,Zuccoli G

更新日期：2016-04-01 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：:We retrospectively identified 15 children ages 12 years and under with anticonvulsant resistant epilepsy who underwent a temporal lobectomy at Children's Hospital, Boston, between 1978 and 1993. Our aim was to study the long-term seizure outcome. Data pertaining to preoperative evaluation, electroencephalography (EEG)...

journal_title：Journal of child neurology

authors： Sotero de Menezes MA,Connolly M,Bolanos A,Madsen J,Black PM,Riviello JJ Jr

更新日期：2001-08-01 00:00:00

abstract：:An epileptic syndrome of benign nocturnal childhood occipital epilepsy with excellent prognosis is described. The syndrome is characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. There may be marching to involve the head and limbs, ending with a generalized tonic-cl...

journal_title：Journal of child neurology

authors： Panayiotopoulos CP

更新日期：1989-01-01 00:00:00

abstract：:Autism is characterized by social deficits, communication and language impairments, narrow restricted interests, repetitive behaviors, inattention, and hyperactivity. While selective serotonin reuptake inhibitors have demonstrated efficacy in treating core symptoms of autism, norepinephrine reuptake inhibitors have de...

journal_title：Journal of child neurology

authors： Hollander E,Kaplan A,Cartwright C,Reichman D

更新日期：2000-02-01 00:00:00

abstract：:We performed a retrospective review of 65 children with developmental delay. The male-to-female ratio was 2.25 : 1, and the mean age was 5.8 years; performance IQ was 94.8, verbal IQ was 83, and full-scale IQ was 87.4. Twenty-three (35%) children had normal language development, 13 (20%) had below average language dev...

journal_title：Journal of child neurology

authors： Liao SF,Liu JC,Hsu CL,Chang MY,Chang TM,Cheng H

更新日期：2015-01-01 00:00:00

abstract：:Subacute necrotizing encephalomyelopathy (Leigh syndrome) refers to a nebulous disease entity characterized by lactic acidosis, a wide variety a clinical manifestations, and a consistent conglomeration of pathologic findings. Several abnormalities in metabolism have been delineated in association with Leigh syndrome, ...

journal_title：Journal of child neurology

authors： Gingold MK,Bodensteiner JB,Schochet SS,Jaynes M

更新日期：1999-05-01 00:00:00

abstract：:Duchenne and Becker muscular dystrophy are allelic X-linked disorders causing progressive muscle weakness in males. Duchenne muscular dystrophy is caused by absence of dystrophin in muscle and brain; boys with Duchenne muscular dystrophy have a static cognitive impairment with mean Full Scale IQ approximately 1 standa...

journal_title：Journal of child neurology

authors： Young HK,Barton BA,Waisbren S,Portales Dale L,Ryan MM,Webster RI,North KN

更新日期：2008-02-01 00:00:00

abstract：:The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...

journal_title：Journal of child neurology

authors： Matthews DJ,James KA,Miller LA,Pandya S,Campbell KA,Ciafaloni E,Mathews KD,Miller TM,Cunniff C,Meaney FJ,Druschel CM,Romitti PA,Fox DJ,MD STARnet.

更新日期：2010-11-01 00:00:00

abstract：:To determine whether findings on videofluoroscopic swallow studies reveal different patterns of dysphagia between children with central and peripheral neurologic disorders, a retrospective study of 118 videofluoroscopic swallow studies was completed. There were 3 groups: cerebral palsy with only spastic features (n = ...

journal_title：Journal of child neurology

authors： van den Engel-Hoek L,Erasmus CE,van Hulst KC,Arvedson JC,de Groot IJ,de Swart BJ

更新日期：2014-05-01 00:00:00

abstract：:The clinical picture, family history, laboratory data, treatment modalities, and outcome in 27 juvenile myasthenics seen over a 25-year period are presented. Onset was after 10 years of age in the majority of patients. Half presented with ocular signs, the other half with generalized-onset myasthenia. Half of those wi...

journal_title：Journal of child neurology

authors： Afifi AK,Bell WE

更新日期：1993-10-01 00:00:00

abstract：:We report the unique case of late-onset pancraniosynostosis presenting with rapid visual deterioration, without other symptoms of increased intracranial pressure. A 10-year-old girl had episodes of blurry vision for 1 month. Magnetic resonance imaging (MRI) demonstrated a borderline Chiari I malformation. Ophthalmolog...

journal_title：Journal of child neurology

authors： Bonfield CM,Tamber MS,Losee JE

更新日期：2014-08-01 00:00:00

abstract：:Clinical manifestations were retrospectively assessed in 5 families with tuberous sclerosis complex, including 1 pair of monozygotic twins. Interfamilial variation in tuber count was significantly larger than intrafamilial variation. Severity of epilepsy and cognitive profiles varied both between and within families, ...

journal_title：Journal of child neurology

authors： Lyczkowski DA,Conant KD,Pulsifer MB,Jarrett DY,Grant PE,Kwiatkowski DJ,Thiele EA

更新日期：2007-12-01 00:00:00

abstract：:The ketogenic diet has traditionally been considered an anticonvulsant therapy of last resort, despite excellent efficacy and limited side effects. We hypothesized that the ketogenic diet would have similar results in patients with new-onset epilepsy. A retrospective study was conducted of patients started on the keto...

journal_title：Journal of child neurology

authors： Rubenstein JE,Kossoff EH,Pyzik PL,Vining EP,McGrogan JR,Freeman JM

更新日期：2005-01-01 00:00:00

abstract：:We present 12 cases of males with myalgia and cramps and a normal muscle strength examination. All the patients had muscle dystrophin values consistent with Becker muscular dystrophy. Five of the patients had a normal electromyogram, and five had normal light microscopic muscle biopsy results. Of particular note, four...

journal_title：Journal of child neurology

authors： Samaha FJ,Quinlan JG

更新日期：1996-01-01 00:00:00

abstract：BACKGROUND:Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. OBJECTIVES:To report on the quality...

journal_title：Journal of child neurology

authors： Weaver MS,Hanna R,Hetzel S,Patterson K,Yuroff A,Sund S,Schultz M,Schroth M,Halanski MA

更新日期：2020-04-01 00:00:00

abstract：:Prenatal ultrasonographic evidence of intracranial mass lesions generally results in a diagnosis of primary glial or primitive neuroectodermal neoplasm. We describe two infants, one who was stillborn at 25 weeks' estimated gestational age and one term infant who was born live and died shortly after birth with large in...

journal_title：Journal of child neurology

authors： Harris CP,Townsend JJ,Klatt EC

更新日期：1994-10-01 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：:In this era of changing priorities, regulations, and resources, it is useful to look both back and forward at the building of a division of child neurology in the context of the emergence of child neurology as a nationally and internationally recognized distinct subspecialty of both pediatrics and neurology. Both Pitt...

journal_title：Journal of child neurology

authors： Schor NF,Crumrine PK

更新日期：2003-02-01 00:00:00

abstract：:Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interestin...

journal_title：Journal of child neurology

authors： Yaris N,Aynaci FM,Kalyoncu M,Odemiş E,Okten A

更新日期：2004-01-01 00:00:00

abstract：:Multiple sclerosis onset in youth is increasingly recognized. A systematic review was conducted to assess incidence and prevalence of pediatric-onset multiple sclerosis, focusing on occurrence by age subgroups and disease course. A literature search for the period 1965-2018 was carried out, selecting population-based ...

journal_title：Journal of child neurology

authors： Jeong A,Oleske DM,Holman J

更新日期：2019-10-01 00:00:00

abstract：:The authors provide an update on most issues related to biology, diagnosis, and treatment of children with ependymoma based on a literature review. Ependymoma is the third most common brain tumor in children and overall survival ranges from 24% to 75% at 5 years. The extent of surgical resection remains the principal ...

journal_title：Journal of child neurology

authors： Zacharoulis S,Moreno L

更新日期：2009-11-01 00:00:00

abstract：:Autosomal inherited mitochondrial diseases have been of increasing interest among clinicians and mitochondrial research groups because these diseases are caused through a secondary effect on the mitochondrial DNA. It was thought that the genetic stability of mitochondrial DNA relies on the accuracy of DNA polymerase g...

journal_title：Journal of child neurology

authors： Burusnukul P,de los Reyes EC

更新日期：2009-04-01 00:00:00

abstract：:Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use...

journal_title：Journal of child neurology

authors： Butrum MW,Williams LS,Golomb MR

更新日期：2003-11-01 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：:Pyridoxine dependency and congenital hypophosphatasia are unusual metabolic disorders. We report a female infant born from healthy consanguineous parents with shortening of limbs, detected during pregnancy by ultrasonography. Immediately after delivery, the baby was admitted to the neonatal intensive care unit because...

journal_title：Journal of child neurology

authors： Nunes ML,Mugnol F,Bica I,Fiori RM

更新日期：2002-03-01 00:00:00

abstract：:Neuromyelitis optica is a rare, severe idiopathic disease that predominantly involves optic nerves and spinal cord. Main clinical features of neuromyelitis optica are visual loss, paraparesis or tetraparesis, sensory loss, and sphincter dysfunction. A 13-year-old girl with vision loss and behavioral change was admitte...

journal_title：Journal of child neurology

authors： Yavuz H,Kiresi D

更新日期：2013-05-01 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：:An infant with a neonatal form of nemaline myopathy showed ultrastructural features of muscle immaturity. Immaturity was characterized by an abnormal presence of myotubes, as well as cells in clusters within a common basement membrane and a great number of satellite cells adhering to very small muscle fibers. In addit...

journal_title：Journal of child neurology

authors： Fidziańska A,Goebel HH,Kleine M

更新日期：1990-04-01 00:00:00

abstract：:Postictal psychoses are brief psychotic episodes that usually occur after poorly controlled partial complex seizure clusters. The psychosis commonly appears following a lucid interval, ranging from a few hours to days after seizure termination. An underlying structural brain abnormality is common and usually involves ...

journal_title：Journal of child neurology

authors： Nissenkorn A,Moldavsky M,Lorberboym M,Raucher A,Bujanover Y,Lerman-Sagie T

更新日期：1999-12-01 00:00:00