Acute disseminated encephalomyelitis with probable measles vaccine failure.

abstract：:We used two strategies to investigate a possible link between predisposition for epilepsy and mutations in the fragile X mental retardation-1 gene. The first entailed performing electroencephalography on 14 patients with an amplification in the fragile X mental retardation-1 gene, and the second involved molecular gen...

journal_title：Pediatric neurology

authors： Kluger G,Böhm I,Laub MC,Waldenmaier C

更新日期：1996-11-01 00:00:00

abstract：:We investigate the incidence of torticollis associated with neonatal brachial plexus palsy, whether the severity of brachial plexus palsy affects outcomes and the rate of recovery. We performed a retrospective review of 128 consecutive neonatal brachial plexus palsy patients evaluated at the University of Michigan fro...

journal_title：Pediatric neurology

authors： Hervey-Jumper SL,Justice D,Vanaman MM,Nelson VS,Yang LJ

更新日期：2011-11-01 00:00:00

abstract：:Two siblings, a 27-year-old man and his 24-year-old sister were diagnosed with classic transferase deficiency galactosemia at birth and were treated with strict lactose restriction. Despite well-documented dietary management, both siblings are mentally retarded and manifest a progressive neurologic condition character...

journal_title：Pediatric neurology

authors： Koch TK,Schmidt KA,Wagstaff JE,Ng WG,Packman S

更新日期：1992-05-01 00:00:00

abstract：BACKGROUND:The sarcoglycan alpha gene, also known as the adhalin gene, is located on chromosome 17q21; mutations in this gene are associated with limb-girdle muscular dystrophy type 2D. We describe two Turkish siblings with findings consistent with limb-girdle muscular dystrophy type 2D. The evaluation excluded a dystr...

journal_title：Pediatric neurology

authors： Diniz G,Tosun Yildirim H,Akinci G,Hazan F,Ozturk A,Yararbas K,Tukun A

更新日期：2014-06-01 00:00:00

abstract：:The relationship between the dose of ACTH and the initial effect was investigated in 41 children with infantile spasms. More than 0.015 mg (0.6 IU)/kg/day of ACTH was needed for a good initial response of seizures and electroencephalographic abnormalities. The relationship between the dose of ACTH and long-term progno...

journal_title：Pediatric neurology

authors： Ito M,Okuno T,Fujii T,Mutoh K,Oguro K,Shiraishi H,Shirasaka Y,Mikawa H

更新日期：1990-07-01 00:00:00

abstract：:Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, ...

journal_title：Pediatric neurology

authors： Yüksel A,Seven M,Cetincelik U,Yeşil G,Köksal V

更新日期：2006-06-01 00:00:00

abstract：:CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindne...

journal_title：Pediatric neurology

authors： Williams RE,Adams HR,Blohm M,Cohen-Pfeffer JL,de Los Reyes E,Denecke J,Drago K,Fairhurst C,Frazier M,Guelbert N,Kiss S,Kofler A,Lawson JA,Lehwald L,Leung MA,Mikhaylova S,Mink JW,Nickel M,Shediac R,Sims K,Specchio

更新日期：2017-04-01 00:00:00

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

authors： Lockman LA,Sung JH,Krivit W

更新日期：1991-11-01 00:00:00

abstract：:Polyneuritis cranialis is a rare disorder of multiple cranial nerve palsies without spinal cord involvement. The case reported is of a 10-year-old boy with multiple palsies involving cranial nerves III, IV, V, VI, VII, IX, X, XI, and XII cranial nerves, unilaterally or bilaterally. After initial, unsuccessful treatmen...

journal_title：Pediatric neurology

authors： Pavone P,Incorpora G,Romantshika O,Ruggieri M

更新日期：2007-09-01 00:00:00

abstract：:Eye movements were assessed in 22 patients with varying degrees of hypoxanthine-guanine phosphoribosyltransferase deficiency. Ocular motility was clinically normal in seven patients with moderate enzyme deficiency but grossly abnormal in 15 patients with severe enzyme deficiency. In patients with severe deficiency, fi...

journal_title：Pediatric neurology

authors： Jinnah HA,Lewis RF,Visser JE,Eddey GE,Barabas G,Harris JC

更新日期：2001-03-01 00:00:00

abstract：:Transient nonketotic hyperglycinemia is characterized by clinical and biochemical findings similar to those seen in classic nonketotic hyperglycinemia. Abnormalities in amino acids are partially or completely resolved in a period ranging from days to months. Almost all patients with the classic form of nonketotic hype...

journal_title：Pediatric neurology

authors： Aliefendioğlu D,Tana Aslan Ay,Coşkun T,Dursun A,Cakmak FN,Kesimer M

更新日期：2003-02-01 00:00:00

abstract：:Hashimoto encephalopathy is a rare, clinically heterogenous condition. Its treatment is based on corticosteroids. A previously normal 12-year-old boy was admitted to our pediatric emergency department with status epilepticus. He experienced a recurrence of status epilepticus after pentobarbital withdrawal, and require...

journal_title：Pediatric neurology

authors： Bektas Ö,Yılmaz A,Kendirli T,Sıklar Z,Deda G

更新日期：2012-02-01 00:00:00

abstract：:Two brothers with congenital myotonic dystrophy also had cystinuria with large renal stones. This report is the first to document the concurrence of cystinuria and congenital myotonic dystrophy. It is uncertain whether these two conditions are coincidental or share a common pathogenesis. ...

journal_title：Pediatric neurology

authors： Kimura S,Amemiya F,Fukazawa H

更新日期：1987-07-01 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：:The historic and current status of Hallervorden-Spatz syndrome diagnosis, classification, and therapies are discussed. A number of symptomatic therapies are available and should be used optimally for each patient. Although one gene locus has been identified, many patients do not manifest linkage to the NBIA1 locus (ne...

journal_title：Pediatric neurology

authors： Swaiman KF

更新日期：2001-08-01 00:00:00

abstract：:Möbius syndrome is a rare congenital disease characterized by the paralysis of the facial nerve, accompanied by impaired ocular abduction. We have performed an extensive mutation analysis on a recently identified positional candidate gene, PLEXIN-D1, for Möbius syndrome 2 mapping to chromosome 3q21-q22. Southern analy...

journal_title：Pediatric neurology

authors： van der Zwaag B,Verzijl HT,Wichers KH,Beltran-Valero de Bernabe D,Brunner HG,van Bokhoven H,Padberg GW

更新日期：2004-08-01 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：:According to increasing evidence, hypothermia can significantly improve outcomes in term neonates manifesting asphyxic insult and hypoxic-ischemic encephalopathy. Oxidative stress plays a key role in hypoxic-ischemic and inflammatory brain injuries. We investigated the impact of hypothermia on oxidative stress in babi...

journal_title：Pediatric neurology

authors： Perrone S,Szabó M,Bellieni CV,Longini M,Bangó M,Kelen D,Treszl A,Negro S,Tataranno ML,Buonocore G

更新日期：2010-10-01 00:00:00

abstract：:Acute disseminated encephalomyelitis is an inflammatory disorder of the central nervous system. Uniform diagnostic criteria for acute disseminated encephalomyelitis did not exist until publication of expert-defined consensus definitions by the International Pediatric Multiple Sclerosis Society Group in 2007, with upda...

journal_title：Pediatric neurology

authors： Cole J,Evans E,Mwangi M,Mar S

更新日期：2019-11-01 00:00:00

abstract：PURPOSE:To provide consensus-based, suggested imaging protocols to facilitate the accurate and timely diagnosis of a neonate with symptoms concerning for stroke. METHODS:The Writing Group, an international collaboration of pediatric neurologists and neuroradiologists with expertise in perinatal and childhood stroke, p...

journal_title：Pediatric neurology

authors： Lee S,Mirsky DM,Beslow LA,Amlie-Lefond C,Danehy AR,Lehman L,Stence NV,Vossough A,Wintermark M,Rivkin MJ,International Paediatric Stroke Study Neuroimaging Consortium and the Paediatric Stroke Neuroimaging Consortium.

更新日期：2017-04-01 00:00:00

abstract：:This study reports a large case series of children with Aicardi syndrome. A new severity scoring system is established to assess sidedness of ocular and brain lesions. Thirty-five children were recruited from Aicardi syndrome family conferences. All children received dilated ophthalmologic examinations, and brain magn...

journal_title：Pediatric neurology

authors： Cabrera MT,Winn BJ,Porco T,Strominger Z,Barkovich AJ,Hoyt CS,Wakahiro M,Sherr EH

更新日期：2011-09-01 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：:Sturge-Weber syndrome is a rare disorder that occurs with a frequency of approximately 1 per 50,000. The disease is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. Facial cutaneous vascular malformations, seizures, and gla...

journal_title：Pediatric neurology

authors： Thomas-Sohl KA,Vaslow DF,Maria BL

更新日期：2004-05-01 00:00:00

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

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

abstract：BACKGROUND:Acute dyskinetic or dystonic reactions are a long-recognized complication of medications that alter dopamine signaling. Most reactions occur following exposure to agents that block dopamine receptors (e.g., neuroleptics). However, agents that increase dopaminergic transmission (such as methylphenidate) can a...

journal_title：Pediatric neurology

authors： Waugh JL

更新日期：2013-07-01 00:00:00

abstract：:Epidermal nevus syndrome is a neurocutaneous disorder characterized by the association of epidermal nevi with central nervous system or skeletal abnormalities. Central nervous system abnormalities include hemimegalencephaly, hydrocephalus, various migration disorders, intraspinal lipomas, and enlarged spinal roots. Ra...

journal_title：Pediatric neurology

authors： Kara B,Inan N,Bayramgürler D,Altintaş O,Akbulut A

更新日期：2008-10-01 00:00:00

abstract：INTRODUCTION:The ketogenic diet is a valuable therapy for patients with intractable epilepsy, but it can result in a variety of complications that sometimes limits its usefulness. Hypoproteinemia is one of the common adverse effects of this diet, although the underling mechanism is largely unknown except for the diet's...

journal_title：Pediatric neurology

authors： Moriyama K,Watanabe M,Yamada Y,Shiihara T

更新日期：2015-05-01 00:00:00

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

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

更新日期：2012-01-01 00:00:00

abstract：:Methylphenidate (MPH) effects on global and complex measures of electroencephalography were examined in boys with attention-deficit-hyperactivity disorder between the ages of 9 and 11 years. Electroencephalogram (EEG) data were collected separately from the administration of a continuous performance task and were eval...

journal_title：Pediatric neurology

authors： Lubar JF,White JN Jr,Swartwood MO,Swartwood JN

更新日期：1999-09-01 00:00:00

abstract：BACKGROUND:Newborns with congenital heart disease have associated brain damage that affects short-and long-term neurodevelopment. Several neuronal biomarkers exist that could predict brain damage. We investigated the pattern of neuron-specific enolase (NSE) and s100B levels after cardiopulmonary bypass surgery in neona...

journal_title：Pediatric neurology

authors： Trakas E,Domnina Y,Panigrahy A,Baust T,Callahan PM,Morell VO,Munoz R,Bell MJ,Sanchez-de-Toledo J

更新日期：2017-07-01 00:00:00