Epilepsy and fragile X gene mutations.

abstract：:The use of lipid-lowering statins has been associated with raised serum muscle enzymes and, occasionally, with rhabdomyolysis, especially in patients with pre-existing metabolic myopathies. The A3243G mutation is one of the most common mutations associated with mitochondrial disorders. A teenager harboring the A3243G ...

journal_title：Pediatric neurology

authors： Tay SK,Dimauro S,Pang AY,Lai PS,Yap HK

更新日期：2008-12-01 00:00:00

abstract：:The purpose of this study was to describe the spectrum of possible abnormal neurologic outcomes in term infants with intrapartum asphyxia and to identify those clinical factors associated with the later occurrence of cerebral palsy. All children with term intrapartum asphyxia encountered in a single pediatric neurolog...

journal_title：Pediatric neurology

authors： Al-Macki N,Miller SP,Hall N,Shevell M

更新日期：2009-12-01 00:00:00

abstract：:We investigated the clinical characteristics of children with continuous spike waves during slow-wave sleep syndrome and their treatment response to levetiracetam. Five boys and one girl, diagnosed with epilepsy with continuous spike waves during slow-wave sleep syndrome, were enrolled. Their clinical characteristics,...

journal_title：Pediatric neurology

authors： Wang SB,Weng WC,Fan PC,Lee WT

更新日期：2008-08-01 00:00:00

abstract：:Four patients who manifested symptoms of the antiepileptic drug (AED) hypersensitivity syndrome during therapy with carbamazepine are reported. In 3 patients, the syndrome was exacerbated after conversion of therapy to another antiepileptic drug with an aromatic ring chemical structure. In vitro lymphocyte transformat...

journal_title：Pediatric neurology

authors： Alldredge BK,Knutsen AP,Ferriero D

更新日期：1994-03-01 00:00:00

abstract：:To evaluate the need for antiepileptic drugs after successful epilepsy surgery in pediatric patients, we retrospectively reviewed patients who had epilepsy surgery and were seizure free or had rare nondisabling auras during the first 6 postoperative months. Association between drug discontinuation and seizure recurren...

journal_title：Pediatric neurology

authors： Lachhwani DK,Loddenkemper T,Holland KD,Kotagal P,Mascha E,Bingaman W,Wyllie E

更新日期：2008-05-01 00:00:00

abstract：:We studied the sensory evoked potentials in pediatric Wilson disease to verify their subclinical neurologic involvement and to elucidate the role of cirrhosis in abnormal evoked potentials in non-neurologic Wilson disease. Thirty children (17 male, 13 female), diagnosed with Wilson disease before 18 years, were enroll...

journal_title：Pediatric neurology

authors： Hsu YS,Chang YC,Lee WT,Ni YH,Hsu HY,Chang MH

更新日期：2003-07-01 00:00:00

abstract：:This report presents a new mutation in the first Japanese female infant with spinal muscular atrophy with respiratory distress type 1. She manifested the characteristic clinical features, including early-onset respiratory failure due to diaphragmatic paralysis and severe distal muscle weakness. Muscle biopsy in the fe...

journal_title：Pediatric neurology

authors： Tachi N,Kikuchi S,Kozuka N,Nogami A

更新日期：2005-04-01 00:00:00

abstract：:Periodic limb movements of sleep are clinically underdiagnosed in children. Polysomnography is the most accurate diagnostic test. There is a paucity of information regarding polysomnography findings in children. We evaluated the prevalence and correlates of pediatric periodic limb movements detected by polysomnography...

journal_title：Pediatric neurology

authors： Bokkala S,Napalinga K,Pinninti N,Carvalho KS,Valencia I,Legido A,Kothare SV

更新日期：2008-07-01 00:00:00

abstract：:We describe two children from a consanguineous family who manifested mega-corpus callosum, polymicrogyria, and psychomotor retardation. These patients also exhibited the brain anomalies of pontine hypoplasia and an abnormal cerebellar vermis. Our report confirms the genetic nature of megalencephaly-polymicrogyria-mega...

journal_title：Pediatric neurology

authors： Bindu PS,Taly AB,Sinha S,Bharath RD

更新日期：2010-02-01 00:00:00

abstract：:Central nervous system manifestations of acute myeloid leukemia are rare at presentation. Acute cranial nerve findings on neurologic examination can be indications for brain imaging. Magnetic resonance imaging can highlight cranial nerves emerging from the brainstem, particularly if they are gadolinium-enhanced or thi...

journal_title：Pediatric neurology

authors： Mott J,Carlson MD

更新日期：2012-11-01 00:00:00

abstract：:We analyzed the clinical manifestations, genetic mutations, treatment responses to L-dopa, and long-term neurologic outcomes in Taiwanese infants with tyrosine hydroxylase deficiency. From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutatio...

journal_title：Pediatric neurology

authors： Chi CS,Lee HF,Tsai CR

更新日期：2012-02-01 00:00:00

abstract：BACKGROUND:Ketamine has recently emerged as a promising therapeutic alternative for abortive migraine therapy, likely secondary to N-methyl-d-aspartate antagonism. Most reports examine adults and the intravenous route. Fewer utilize intranasal administration or pediatric populations. Given the limited evidence for intr...

journal_title：Pediatric neurology

authors： Turner AL,Shandley S,Miller E,Perry MS,Ryals B

更新日期：2020-03-01 00:00:00

abstract：:The ability to predict long-term neurologic and neuropsychologic outcomes in 22 children, ages 1 week to 14 years at the time of traumatic brain injury, was investigated using proton magnetic resonance spectroscopy acquired post injury and compared with standardized neurologic, intellectual, and neuropsychologic testi...

journal_title：Pediatric neurology

authors： Brenner T,Freier MC,Holshouser BA,Burley T,Ashwal S

更新日期：2003-02-01 00:00:00

abstract：:To determine the factors affecting the neurodevelopmental outcome in children with posthemorrhagic hydrocephalus, 78 children with intraventricular hemorrhage grade 3 or 4 were analyzed concerning the outcome in relation to the grade of intraventricular hemorrhage and intervention (surgical, medical, or no interventio...

journal_title：Pediatric neurology

authors： Futagi Y,Suzuki Y,Toribe Y,Nakano H,Morimoto K

更新日期：2005-07-01 00:00:00

abstract：:The effects of vagal nerve stimulation on sleep-related breathing have not been well-described in children. Vagal nerve stimulation was reported to cause decreases in airflow during sleep, although most studies reported this condition to be clinically insignificant. We present a retrospective case series of nine child...

journal_title：Pediatric neurology

authors： Hsieh T,Chen M,McAfee A,Kifle Y

更新日期：2008-02-01 00:00:00

abstract：:Oxcarbazepine, a carbamazepine analog, was approved for use as an antiepileptic agent in the United States in 2000. A search of the United States Food and Drug Administration's Adverse Event Reporting System identified nine cases of oxcarbazepine-associated angioedema in pediatric patients aged 16 years and younger. W...

journal_title：Pediatric neurology

authors： Knudsen JF,Flowers CM,Kortepeter C,Awaad Y

更新日期：2007-08-01 00:00:00

abstract：:The causes of sixth nerve palsies in 75 children, all of whom had undergone modern neuroimaging, were reviewed. Neoplasms or their neurosurgical removal was the most common cause (n = 34 [45%]); elevated intracranial pressure (nontumor) (15%), traumatic (12%), congenital (11%), inflammatory (7%), miscellaneous (5%), a...

journal_title：Pediatric neurology

authors： Lee MS,Galetta SL,Volpe NJ,Liu GT

更新日期：1999-01-01 00:00:00

abstract：:Neonatal lupus erythematosus, characterized mainly by congenital heart block and transient skin lesions, is usually self-limited. A patient with history of neonatal lupus erythematosus and congenital heart block developed central nervous system vasculopathy resembling moyamoya disease and hypertension at 17 years of a...

journal_title：Pediatric neurology

authors： Inoue K,Fukushige J,Ohno T,Igarashi H,Hara T

更新日期：2002-01-01 00:00:00

abstract：:The progression and characteristics of magnetic resonance imaging (MRI) and computed tomographic (CT) findings in 3 patients with infantile Krabbe disease (i.e., globoid cell leukodystrophy or galactocerebroside beta-galactosidase deficiency) are reported. We obtained initial CT and MRI studies when patients demonstra...

journal_title：Pediatric neurology

authors： Sasaki M,Sakuragawa N,Takashima S,Hanaoka S,Arima M

更新日期：1991-07-01 00:00:00

abstract：:Seizures are an early sign of brain injury in newborns. These seizures are in most cases repetitive or associated with asymptomatic electrographic seizures. Despite the relative resistance of the immature brain to seizure-induced brain damage, there is more and more evidence that neonatal seizures impair normal brain ...

journal_title：Pediatric neurology

authors： Thibeault-Eybalin MP,Lortie A,Carmant L

更新日期：2009-03-01 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：:Four children with self-inflicted strangulation injuries had cerebral blood flow determined by stable xenon computed tomography (XeCTCBF) within 24 hours of admission. All had suffered a severe hypoxic-ischemic cerebral injury; 3 initially had fixed pupils, all were apneic with varying bradyarrhythmias, and the initia...

journal_title：Pediatric neurology

authors： Ashwal S,Perkin RM,Thompson JR,Tomasi LG,van Stralen D,Schneider S

更新日期：1991-09-01 00:00:00

abstract：:Chromosome X-to-autosome translocations [t(X;A)] are rare rearrangements with an estimated occurrence of 1 to 3 per 10,000 live births. Occurrences of Xq duplications have been observed in male and female subjects in whom the X chromosome segment escapes inactivation and results in functional disomy. We report a case ...

journal_title：Pediatric neurology

authors： Jezela-Stanek A,Ciara E,Juszczak M,Pelc M,Materna-Kiryluk A,Krajewska-Walasek M

更新日期：2011-03-01 00:00:00

abstract：:A group of children and adolescents with infantile nephropathic cystinosis underwent cognitive testing and were examined for cortical atrophy using magnetic resonance imaging or computed tomography. Ten of 11 patients demonstrated cortical atrophy. A consistent pattern of lower cognitive performance was found in patie...

journal_title：Pediatric neurology

authors： Nichols SL,Press GA,Schneider JA,Trauner DA

更新日期：1990-11-01 00:00:00

abstract：:Two visually impaired children with occipital infarctions are presented. One patient has profound impairment of his primary visual pathway but has good vision for traveling, while the other child presented with the symptoms in reverse. We believe that these two patients provide further evidence that the primary visual...

journal_title：Pediatric neurology

authors： Jan JE,Wong PK,Groenveld M,Flodmark O,Hoyt CS

更新日期：1986-11-01 00:00:00

abstract：BACKGROUND:Transient bulbar palsy without involvement of the facial or extraocular muscles is a rare presentation. It is considered a form of cranial polyneuropathy, a variant of Guillain-Barré syndrome that is related to the autoimmune mechanisms induced by preceding infections or vaccinations. However, drug-induced c...

journal_title：Pediatric neurology

authors： Han TH,Kim DY,Park DW,Moon JH

更新日期：2017-01-01 00:00:00

abstract：BACKGROUND:Excessive gum-chewing is underreported as a headache precipitant in children and adolescents. We evaluated the influence of daily excessive gum-chewing in older children and teenagers with chronic headache, emphasizing the impact of habit discontinuation and its reintroduction. METHODS:Patients with chronic...

journal_title：Pediatric neurology

authors： Watemberg N,Matar M,Har-Gil M,Mahajnah M

更新日期：2014-01-01 00:00:00

abstract：:A 4-year-old female was hospitalized with clinical and electroencephalographic evidence of acute encephalopathy. Five days later the classic signs of Kawasaki disease appeared. The neurologic outcome in this female was poor despite early treatment with immunoglobulin. Like many other vasculitidies, Kawasaki disease ca...

journal_title：Pediatric neurology

authors： Tabarki B,Mahdhaoui A,Selmi H,Yacoub M,Essoussi AS

更新日期：2001-09-01 00:00:00

abstract：:A boy diagnosed as having glycogenosis type II at three years of age, underwent a sural nerve biopsy at the age of seven years. The distribution of the diameters of myelinated nerve fibers did not clearly demonstrate a bimodal pattern. However, larger fibers of 8 microns or more in diameter were more abundant. This fi...

journal_title：Pediatric neurology

authors： Origuchi Y,Itai Y,Matsumoto S,Matsuishi T

更新日期：1986-11-01 00:00:00

abstract：:This report describes two patients, a father and son, with autosomal dominant Emery-Dreifuss muscular dystrophy. Although the father had the common phenotype, the son had a severe phenotype including early onset of weakness and fatal cardiomyopathy in childhood. Among the patients with severe phenotype of autosomal do...

journal_title：Pediatric neurology

authors： Higuchi Y,Hongou M,Ozawa K,Kokawa H,Masaki M

更新日期：2005-05-01 00:00:00