Serum Neuronal Biomarkers in Neonates With Congenital Heart Disease Undergoing Cardiac Surgery.

abstract：:We describe the association of brain death in an infant with a large cutaneous hemangioma of the forearm. The irreversible cerebral injury is presumed to be secondary to cerebral hypoperfusion as a result of a combination of systemic hypotension and a systemic vascular "steal" phenomenon caused by the cutaneous hemang...

journal_title：Pediatric neurology

authors： Hamvas A,Perlman JM,Volpe JJ

更新日期：1990-01-01 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：:Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range of clinical manifestations. Although there is currently no effective treatment of ADSL deficiency, recognition of the condit...

journal_title：Pediatric neurology

authors： Lundy CT,Jungbluth H,Pohl KR,Siddiqui A,Marinaki AM,Mundy H,Champion MP

更新日期：2010-11-01 00:00:00

abstract：:Pregabalin is a new antiepileptic drug that acts at presynaptic calcium channels, modulating neurotransmitter release. We report on treating consecutive children with severe drug-resistant epilepsy in a prospective, open-label, add-on trial. Nineteen children (63% male) aged 4-15 years (mean, 9.7; S.D., 2.9) were incl...

journal_title：Pediatric neurology

authors： Jan MM,Zuberi SA,Alsaihati BA

更新日期：2009-05-01 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：:Miller-Dieker syndrome (MDS) is a prototype of brain malformations characterized by abnormal neuronal migration. To clarify the pathomechanisms underlying these anomalies, we performed immunohistochemical studies using specific antibodies against the protein product of LIS-1, the candidate gene responsible for the MDS...

journal_title：Pediatric neurology

authors： Isumi H,Takashima S,Kakita A,Yamada M,Ikeda K,Mizuguchi M

更新日期：1997-01-01 00:00:00

abstract：:Although acute disseminated encephalomyelitis has been observed after a variety of viral infections and an occasional bacterial infection, it has not been reported in association with rickettsial infections. Reported is a 7-year-old male with magnetic resonance images and clinical manifestations suggestive of acute di...

journal_title：Pediatric neurology

authors： Wei TY,Baumann RJ

更新日期：1999-07-01 00:00:00

abstract：BACKGROUND:Concern exists regarding a possible harmful impact of vacuum extraction on the preterm newborn. We aimed to evaluate the long-term pediatric neurodevelopmental outcomes of the preterm offspring after vacuum extraction. METHODS:A population-based cohort analysis was performed comparing the risk for long-term...

journal_title：Pediatric neurology

authors： Schwarzman P,Sheiner E,Wainstock T,Mastrolia SA,Segal I,Landau D,Walfisch A

更新日期：2019-05-01 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：: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：:This report presents a patient with Devics neuromyelitis optica associated with primary Sjögrens syndrome. Her first attack was right-sided optic neuritis at age 10 years. Attacks involving both optic nerves and medulla spinalis were recorded during the ensuing years. The diagnosis of Sjögrens syndrome could not be ma...

journal_title：Pediatric neurology

authors： Gökçay F,Celebisoy N,Gökçay A,Kabasakal Y,Oder G

更新日期：2007-01-01 00:00:00

abstract：:Methotrexate causes several biochemical changes that impact the nervous system. The neurotoxicity usually affects the cerebral white matter, causing a leukoencephalopathy that can be chronic and progressive with cognitive decline. A 15-year-old male developed olfactory seizures and behavioral abnormalities (hypersexua...

journal_title：Pediatric neurology

authors： Antunes NL,Souweidane MM,Lis E,Rosenblum MK,Steinherz PG

更新日期：2002-04-01 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：: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：:Two half-siblings with schizencephaly are presented. They have the same mother who had a normal cerebral imaging study. Only one other kindred was found in which 2 siblings had this cerebral lesion. In the present patients, autosomal inheritance from the mother is possible, but other explanations should include famili...

journal_title：Pediatric neurology

authors： Hosley MA,Abroms IF,Ragland RL

更新日期：1992-03-01 00:00:00

abstract：:Congenital hypotonia with favorable outcome is characterized by an early neonatal onset and a benign clinical course. The old term, proposed by Walton, was benign congenital hypotonia, denoting the presence of muscle weakness and hypotonia, with the exception of Werdnig-Hoffmann disease. It has been clear that this te...

journal_title：Pediatric neurology

authors： Carboni P,Pisani F,Crescenzi A,Villani C

更新日期：2002-05-01 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：:We describe a fetal intracerebral hemorrhage associated with familial thrombophilia. Intraventricular and intraparenchymal hemorrhage of the left cerebral hemisphere was diagnosed at 22 weeks of gestation. Neuropathologic examination demonstrated a large germinal zone hemorrhage and ischemic changes secondary to bleed...

journal_title：Pediatric neurology

authors： Crespin M,Alhenc-Gelas M,Grangé G,Fallet-Bianco C,Fontenay M

更新日期：2009-10-01 00:00:00

abstract：:Magnetic resonance imaging and evoked potential studies were performed on an infant with hydranencephaly. Magnetic resonance imaging demonstrated the absence of cortical tissue with a structurally intact mid- and hind-brain. Evoked potentials confirmed the loss of cortical activity with preservation of brainstem funct...

journal_title：Pediatric neurology

authors： Hanigan WC,Aldrich WM

更新日期：1988-05-01 00:00:00

abstract：:We report the clinical features and the muscle pathology in 2 patients with congenital muscular dystrophy (CMD) secondary to merosin deficiency and in 2 patients with sarcoglycan (adhalin) deficiency. Electron microscopic examination revealed sarcolemmal defects in non-necrotic muscle fibers in all cases. These pathol...

journal_title：Pediatric neurology

authors： Fadic R,Waclawik AJ,Lewandoski PJ,Lotz BP

更新日期：1997-01-01 00:00:00

abstract：:Forty-seven patients (39 boys and 8 girls) with infantile autism whose clinical symptoms had matched the diagnostic criteria of DSM III were studied cytogenetically for the occurrence of fragile X [fra(X)] syndrome. The existence of fra(X) chromosome in these patients was screened first by culturing peripheral blood l...

journal_title：Pediatric neurology

authors： Matsuishi T,Shiotsuki Y,Niikawa N,Katafuchi Y,Otaki E,Ando H,Yamashita Y,Horikawa M,Urabe F,Kuriya N

更新日期：1987-09-01 00:00:00

abstract：:We report on a 16-year-old girl with muscular atrophy of a distal upper extremity (Hirayama disease). The disease progressed insidiously, and during our first examination, she exhibited weakness and wasting in the right hand, accompanied by cold paresis. No sensory disturbance was evident. A nerve conduction test reve...

journal_title：Pediatric neurology

authors： Hosokawa T,Fujieda M,Wakiguchi H,Oosaki Y

更新日期：2010-08-01 00:00:00

abstract：:Hemiconvulsion-hemiplegia-epilepsy syndrome involves sudden and prolonged unilateral seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Some patients with familial hemiplegic migraine and demonstrating the S218L mutation in CACNA1A experience severe attacks with uni...

journal_title：Pediatric neurology

authors： Yamazaki S,Ikeno K,Abe T,Tohyama J,Adachi Y

更新日期：2011-09-01 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：:l-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid metabolism. A 5-year-old boy presented with eyelid myoclonia with absences that proved difficult to control with first-line anticonvulsants. An electroencephalogram produced profoundly abnormal results, with gene...

journal_title：Pediatric neurology

authors： Mete A,Isikay S,Sirikci A,Ozkur A,Bayram M

更新日期：2012-03-01 00:00:00

abstract：:The aim of this study was to define the risk ratios of the late-infancy magnetic resonance imaging pattern for long-term outcome in term infants with perinatal asphyxia. We evaluated 65 term infants with perinatal asphyxia and performed magnetic resonance imaging examinations between 4-12 months of age. Magnetic reson...

journal_title：Pediatric neurology

authors： Tekgul H,Serdaroglu G,Yalman O,Tutuncuoglu S

更新日期：2004-07-01 00:00:00

abstract：:Subclinical rhythmic electroencephalogram (EEG) discharge is an uncommon rhythmic EEG pattern that has been reported to occur in adults. It is thought to be a nonspecific finding with little clinical significance. This article reports this EEG pattern in two children and suggests it be called subclinical rhythmic EEG ...

journal_title：Pediatric neurology

authors： Nagarajan L,Gregory PB,Hewitt IK,Gubbay SS,Parry TS

更新日期：2001-04-01 00:00:00

abstract：:A 13-year, 6-month-old female was evaluated for subacute onset of left-sided hemichorea/hemiballismus, with an old, right parietal, cortical, and subcortical stroke as the presumed cause. Treatment with gabapentin was initiated, with good results at 6-month follow-up. Discussion of the differential diagnosis and evalu...

journal_title：Pediatric neurology

authors： Kothare SV,Pollack P,Kulberg AG,Ravin PD

更新日期：2000-01-01 00:00:00

abstract：:Potassium channel subunits encoded by several genes of the KCNQ family underlie the M-current. Specifically, KCNQ2 and KCNQ3 play a major role at most neuronal sites. Mutations in KCNQ2 or KCNQ3 that reduce the M-current are responsible for benign familial neonatal seizures, a rare autosomal dominant idiopathic epilep...

journal_title：Pediatric neurology

authors： Goldberg-Stern H,Kaufmann R,Kivity S,Afawi Z,Heron SE

更新日期：2009-11-01 00:00:00

abstract：:Gangliogliomas are rare neurogliogenic tumors of the central nervous system. Primary involvement of the brainstem is characterized by variable presentations and a long clinical course before diagnosis. Identification of this group of tumors is essential because clinical improvement and prolonged survival have been doc...

journal_title：Pediatric neurology

authors： Martin LD,Kaplan AM,Hernried LS,Fisher BJ

更新日期：1986-05-01 00:00:00