Muscle pathology and clinical features of the sarcolemmopathies.

abstract：:Patients with autosomal dominant Segawa disease (dopa-responsive dystonia) demonstrate excellent, sustained response to low-dose levodopa. In contrast, the development of levodopa limiting treatment dyskinesias is thought to support the diagnosis of other early-onset dystonia/parkinsonism syndromes. We describe an aty...

journal_title：Pediatric neurology

authors： López-Laso E,Beyer K,Opladen T,Artuch R,Saunders-Pullman R

更新日期：2012-06-01 00:00:00

abstract：:Neurophysiologic intraoperative monitoring, using somatosensory, brainstem auditory, and visual evoked potentials, transcranial electric motor stimulation, and electromyography, is typically used during complex surgeries involving the motor and sensory cortex, brainstem, cranial nerves, spinal cord, nerve root, periph...

journal_title：Pediatric neurology

authors： Galloway GM,Zamel K

更新日期：2011-03-01 00:00:00

abstract：:The nicotinic acetylcholine receptors are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. Mutations in neuronal nicotinic acetylcholine receptor beta 2 subunit have been associated with autosomal dominant nocturnal frontal lobe epilepsies. A major challenge is t...

journal_title：Pediatric neurology

authors： Peng CT,Chou IC,Li CI,Hsu YA,Tsai CH,Tsai FJ

更新日期：2004-03-01 00:00:00

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

authors： McAdam LC,Blaser SI,Banwell BL

更新日期：2002-01-01 00:00:00

abstract：:Auditory event-related potentials (P300 latency; odd-ball paradigm) were examined in 129 patients with childhood epilepsies and 53 controls. The P300 latency in the patients with epilepsies (373 +/- 39.4 ms) was significantly longer than in controls (356 +/- 38.4), and the prolongation was greatest in the patients wit...

journal_title：Pediatric neurology

authors： Konishi T,Naganuma Y,Hongou K,Murakami M,Yamatani M,Yagi S

更新日期：1995-02-01 00:00:00

abstract：:Acquired chronic hepatocerebral degeneration is a central nervous system disorder secondary to several conditions related to hepatic dysfunction. Clinical features of acquired chronic hepatocerebral degeneration include a hyperkinetic extrapyramidal syndrome, neuropsychiatric symptoms, or both. We present for the firs...

journal_title：Pediatric neurology

authors： Papapetropoulos S,Tzakis A,Sengun C,Reddy C,Boukas K,Zitser J,Singer C

更新日期：2008-01-01 00:00:00

abstract：:We describe a girl with Alagille syndrome and a moyamoya angiographic pattern on magnetic resonance angiography. She was referred for genetic consultation because of posterior embryotoxon and peripheral pulmonary stenosis. Her facial appearance was typical, but she had no cholestasis or vertebral involvement. A hetero...

journal_title：Pediatric neurology

authors： Rocha R,Soro I,Leitão A,Silva ML,Leão M

更新日期：2012-08-01 00:00:00

abstract：BACKGROUND:Mutations in the voltage-gated sodium channel SCN1A gene are responsible for the majority of Dravet syndrome cases. There is evidence that the Nav1.1 channel coded by the SCN1A gene is involved in sleep regulation. We evaluated sleep abnormalities in children with Dravet syndrome using nocturnal polysomnogra...

journal_title：Pediatric neurology

authors： Dhamija R,Erickson MK,St Louis EK,Wirrell E,Kotagal S

更新日期：2014-05-01 00:00:00

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

authors： Moser SJ,Weber P,Lütschg J

更新日期：2007-02-01 00:00:00

abstract：:The objective of this study is to compare the neurodevelopmental outcome between very low birth weight infants with and without sonographic disproportionate enlargement of occipital horn. We retrospectively reviewed the brain sonography of all very low birth weight infants born at National Taiwan University Hospital b...

journal_title：Pediatric neurology

authors： Tang MP,Chou HC,Tsao PN,Tsou KI,Hsieh WS

更新日期：2004-01-01 00:00:00

abstract：:This report describes the outcomes of 28 children who had severe head injuries between 13-18 years of age. All were unconscious at least 24 hours and have been followed at least 2 years after injury. At present, their ages range from 18 to 27 years. Their educational achievements, social activities, marital status, fu...

journal_title：Pediatric neurology

authors： Kriel RL,Krach LE,Bergland MM,Panser LA

更新日期：1988-11-01 00:00:00

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

authors： Atluru VL

更新日期：1986-05-01 00:00:00

abstract：:Perifascicular atrophy of muscle fibers is generally considered to be a specific feature of autoimmune myopathies, dermatomyositis in particular. We describe a neonate presenting with hypotonia and weakness. A biopsy revealed atrophic and regenerating muscle fibers in a perifascicular distribution, and abnormal alkali...

journal_title：Pediatric neurology

authors： Nevo Y,Pestronk A

更新日期：1996-09-01 00:00:00

abstract：:Benign paroxysmal torticollis in infancy is characterized by periods of torticollic posturing of the head. The onset of the episodes usually occurs during the first month of life and may recur at varying intervals until the age of 1-5 years. This appears to be a self-limited disorder. The follow-up of 7 patients with ...

journal_title：Pediatric neurology

authors： Cohen HA,Nussinovitch M,Ashkenasi A,Straussberg R,Kauschanksy A,Frydman M

更新日期：1993-11-01 00:00:00

abstract：BACKGROUND:Sulfatides, the most abundant glycosphingolipids, are a major component of myelin. They are degraded by the combined action of sphingolipid activator protein and arylsulfatase A. Deficiency of either of these entities causes metachromatic leukodystrophy (MLD). On the basis of age of onset, this entity is div...

journal_title：Pediatric neurology

authors： Dubey R,Chakrabarty B,Gulati S,Sharma MC,Deopujari S,Baheti N,Santosh V,Pai G,Kabra M

更新日期：2014-06-01 00:00:00

abstract：:Acute transverse myelitis is a rare Borellia burgdorferi-related neurologic complication in childhood. We present a 12-year-old girl who was diagnosed with acute transverse myelitis associated with a borreliosis infection. We also review clinical features in all five cases of Borellia burgdorferi-related transverse my...

journal_title：Pediatric neurology

authors： Erol I,Kılıçarslan B,Saygi S,Demir S,Alehan F

更新日期：2013-04-01 00:00:00

abstract：:A 5-year-old girl with hemolytic uremic syndrome is reported with pituitary hemorrhage in the acute phase. Seizures, hemiplegia, and transient blindness were observed. These symptoms cannot be attributed to the pituitary hemorrhage; however, pituitary hemorrhage should be added to the list of neurologic lesions that c...

journal_title：Pediatric neurology

authors： Nagai T,Hasegawa O,Tuji A,Kamiyama Y,Honda M,Ito H

更新日期：1992-01-01 00:00:00

abstract：:This report describes a female with eyelid fluttering with absence seizures, infrequent generalized tonic-clonic seizures, and mild mental retardation. Interictal and video-electroencephalography evaluations revealed normal activity while eyes were open but continuous generalized discharges with eyes closed (eyes clos...

journal_title：Pediatric neurology

authors： Senbil N,Soyer O,Turanlý G,Gürer YK

更新日期：2006-11-01 00:00:00

abstract：:The most effective method for the screening and monitoring of optic pathway gliomas in children with neurofibromatosis type 1 remains a dilemma. Children less than 6 years of age are the group at highest risk for the development of optic pathway gliomas. Although an annual ophthalmologic examination currently is recom...

journal_title：Pediatric neurology

authors： Ng YT,North KN

更新日期：2001-01-01 00:00:00

abstract：BACKGROUND:Acute flaccid myelitis (AFM) is a rare disease of young children. The typical presentation involves acute-onset flaccid paralysis in one or more extremities with a nonspecific viral prodrome. Long-term outcomes demonstrate that functional recovery plateaus around six to nine months. The purpose of this study...

journal_title：Pediatric neurology

authors： Paziuk TM,Tadley M,Aversano M,Kozin SH,Zlotolow DA

更新日期：2020-10-01 00:00:00

abstract：:This study reports on the seizure and psychosocial outcome of 29 patients with electroclinically well-defined childhood-onset symptomatogenic or cryptogenic partial epilepsy with complex partial seizures who were followed prospectively over 14 years. Many were refractory at the time of enrollment. At 14-year follow-up...

journal_title：Pediatric neurology

authors： Szabó CA,Rothner AD,Kotagal P,Erenberg G,Dinner DS,Wyllie E

更新日期：2001-04-01 00:00:00

abstract：BACKGROUND:Brain radiotherapy plays a central role in the treatment of certain types of childhood primary central nervous system tumors. However, damage to surrounding normal brain tissue causes different acute and chronic medical and neurological complications. Despite the expected increase in number of childhood prim...

journal_title：Pediatric neurology

authors： Passos J,Nzwalo H,Marques J,Azevedo A,Netto E,Nunes S,Salgado D

更新日期：2015-09-01 00:00:00

abstract：:Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early hepatosplenomegaly and progressive ataxia, dystonia, cataplexy, dysarth...

journal_title：Pediatric neurology

authors： Zafeiriou DI,Triantafyllou P,Gombakis NP,Vargiami E,Tsantali C,Michelakaki E

更新日期：2003-09-01 00:00:00

abstract：:Brain plasticity refers to its ability to recover after damage. Visual field plasticity is not well recognized. We report a 12-year-old female who first presented with recurrent seizures and was subsequently found to have a large, right occipital cortical dysplasia on magnetic resonance imaging. Her visual field by Go...

journal_title：Pediatric neurology

authors： Kong CK,Wong LY,Yuen MK

更新日期：2000-09-01 00:00:00

abstract：:Vertigo, instability, dizziness, or equilibrium disorders are not usually considered as consequences of ophthalmologic problems. We present data indicating that ocular disorders can be responsible for these symptoms in children. In a population of 523 pediatric patients with vertigo or disequilibrium and referred for ...

journal_title：Pediatric neurology

authors： Anoh-Tanon MJ,Bremond-Gignac D,Wiener-Vacher SR

更新日期：2000-07-01 00:00:00

abstract：:A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 y...

journal_title：Pediatric neurology

authors： Zupanc ML,Chun RW,Gilbert-Barness EF

更新日期：1990-09-01 00:00:00

abstract：BACKGROUND:Cerebrospinal fluid opening pressure is elevated with central nervous system infection and vasculitis, but has not been studied in inflammatory demyelinating disease. This retrospective study sought to determine whether children with demyelinating disease demonstrate elevated cerebrospinal fluid opening pres...

journal_title：Pediatric neurology

authors： Narula S,Liu GT,Avery RA,Banwell B,Waldman AT

更新日期：2015-04-01 00:00:00

abstract：:The updated American Heart Association/American Stroke Association guidelines include recommendation for thrombectomy in certain adult stroke cases. The safety and efficacy of thrombectomy in children are unknown. An 8-year-old girl experienced acute stroke symptoms on two occasions while therapeutically anticoagulate...

journal_title：Pediatric neurology

authors： Buompadre MC,Andres K,Slater LA,Mohseni-Bod H,Guerguerian AM,Branson H,Laughlin S,Armstrong D,Moharir M,deVeber G,Humpl T,Honjo O,Keshavjee S,Ichord R,Pereira V,Dlamini N

更新日期：2017-01-01 00:00:00

abstract：:An 11-year-old male was admitted with inability to walk and speech abnormality. He was diagnosed with subacute sclerosing panencephalitis on the basis of clinical and laboratory findings. Therapy with inosiplex (100 mg/kg/day orally) plus intrathecal interferon-alpha (3 million units/dose twice per week) and ribavirin...

journal_title：Pediatric neurology

authors： Caksen H,Odabaş D,Anlar O,Ataş B,Tuncer O

更新日期：2003-07-01 00:00:00

abstract：:An atypical teratoid/rhabdoid tumor of the central nervous system is an aggressive infantile embryonal neoplasm, usually presenting as an infratentorial and intraparenchymatous lesion. We report on magnetic resonance imaging findings of a 22-month-old boy with a biopsy-proven primary rhabdoid tumor, presenting as a si...

journal_title：Pediatric neurology

authors： Bing F,Nugues F,Grand S,Bessou P,Salon C

更新日期：2009-12-01 00:00:00