Pathologic basis of the symptomatic epilepsies in childhood.

abstract：:Intracranial tuberculoma in infants are a rare occurrence. We report a 7-month-old male infant presenting to our tertiary care referral center with complaints of global developmental delay and right hemiparesis for 3 months. Radiologic imaging was suggestive of large left frontoinsular space-occupying lesion with init...

journal_title：Journal of child neurology

authors： Raheja A,Sinha S,Sable MN,Sharma MC,Sharma BS

更新日期：2015-03-01 00:00:00

abstract：:A 14-year-old boy with an episode of acute weakness resembling acute demyelinating encephalomyelitis and polyradiculoneuritis after a febrile illness is described. Molecular analysis showed a mutation at codon 164 of the connexin 32 gene. Neuroradiological and neurophysiological follow-up is reported during acute and ...

journal_title：Journal of child neurology

authors： Fusco C,Frattini D,Pisani F,Spaggiari F,Ferlini A,Della Giustina E

更新日期：2010-06-01 00:00:00

abstract：:Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also docume...

journal_title：Journal of child neurology

authors： Sarnat HB,Flores-Sarnat L,Wei XC

更新日期：2017-05-01 00:00:00

abstract：:Aminoacyl-transfer ribonucleic acid (RNA) synthetases (ARSs) are a group of enzymes required for the first step of protein translation. Each aminoacyl-transfer RNA synthetase links a specific amino acid to its corresponding transfer RNA component within the cytoplasm, mitochondria, or both. Mutations in ARSs have been...

journal_title：Journal of child neurology

authors： McMillan HJ,Humphreys P,Smith A,Schwartzentruber J,Chakraborty P,Bulman DE,Beaulieu CL,FORGE Canada Consortium.,Majewski J,Boycott KM,Geraghty MT

更新日期：2015-07-01 00:00:00

abstract：:The authors conducted this study to identify whether bacille Calmette-Guérin (BCG) vaccination leads to an altered spectrum of neuroimaging findings outcome in pediatric patients with tuberculous meningitis. This retrospective study was conducted through chart review and review of computed tomography (CT) scans and ma...

journal_title：Journal of child neurology

authors： Wasay M,Ajmal S,Taqui AM,Uddin N,Azam I,Husen Y,Nizami SQ

更新日期：2010-05-01 00:00:00

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：:Animal models have assisted in understanding the mechanisms of brain injury underlying cerebral palsy. Nevertheless, no such models replicate every aspect of the human disease. This review summarizes the classic and more recent studies of the neuropathology of human perinatal brain injury most commonly associated with...

journal_title：Journal of child neurology

authors： Folkerth RD

更新日期：2005-12-01 00:00:00

abstract：:Patients with neurofibromatosis 1 show neurocognitive deficits including abnormal visuospatial performance, but oculomotor behavior has not been studied. We recorded saccades in neurofibromatosis 1 and normal children, ages 6 to 12 years. Patients showed increased latency and diminished amplitude to more eccentric tar...

journal_title：Journal of child neurology

authors： Lasker AG,Denckla MB,Zee DS

更新日期：2003-05-01 00:00:00

abstract：:Glucose metabolism of children with drug-resistant epilepsy, controlled by antiepileptic drugs epilepsy, and first-time nonfebrile seizures was studied through the performance of an oral glucose tolerance test and through insulin, C-peptide, and glycosylated hemoglobin measurements. In the refractory epilepsy group, t...

journal_title：Journal of child neurology

authors： Varlamis S,Vavatsi N,Pavlou E,Kotsis V,Spilioti M,Kavga M,Varlamis G,Sotiriadou F,Agakidou E,Voutoufianakis S,Evangeliou AE

更新日期：2013-11-01 00:00:00

abstract：:Patients with partial seizures aged 1 week to 19 years (n = 175) were included in several prospective vigabatrin studies at the hospital Saint Vincent de Paul. A decrease in seizure frequency of over 50% was achieved in 70% of patients, with 30% becoming seizure free, and only 6% experiencing an increase. Tuberous scl...

journal_title：Journal of child neurology

authors： Nabbout RC,Chiron C,Mumford J,Dumas C,Dulac O

更新日期：1997-04-01 00:00:00

abstract：:Germinal matrix hemorrhage refers to bleeding that arises from the subependymal (or periventricular) germinal region of the immature brain. Clinical studies have shown that infants who experience germinal matrix hemorrhage can develop hydrocephalus or suffer from long-term neurologic dysfunction, including cerebral pa...

journal_title：Journal of child neurology

authors： Balasubramaniam J,Del Bigio MR

更新日期：2006-05-01 00:00:00

abstract：:Mitochondrial cytopathies are a group of heterogeneous disorders characterized by multisystem involvement. Renal involvement in mitochondrial cytopathies is usually manifested as tubular dysfunction owing to impaired energy metabolism; however, a few cases with glomerular changes have also been reported. Herein we rep...

journal_title：Journal of child neurology

authors： Unal S,Kalkanoğlu HS,Kocaefe C,Gucer S,Ozen S,Turanli G,Coskun T

更新日期：2005-01-01 00:00:00

abstract：:The relationships between the Expanded Hammersmith Functional Motor Scale (HFMSE) and genotype and motor and respiratory outcomes were examined in patients with spinal muscular atrophy types II and III (n = 70). The correlation between the HFMSE and Gross Motor Function Measure was r = 0.98. Correlations between HFMSE...

journal_title：Journal of child neurology

authors： Glanzman AM,O'Hagen JM,McDermott MP,Martens WB,Flickinger J,Riley S,Quigley J,Montes J,Dunaway S,Deng L,Chung WK,Tawil R,Darras BT,De Vivo DC,Kaufmann P,Finkel RS,Pediatric Neuromuscular Clinical Research Network for Spin

更新日期：2011-12-01 00:00:00

abstract：:To contribute to characterize electroencephalographic (EEG) activity in pediatric anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis, we reviewed electroclinical data of 5 children with anti-NMDA receptor encephalitis diagnosed in our department. We identified 4 longitudinal electroencephalographic phases: in...

journal_title：Journal of child neurology

authors： Nosadini M,Boniver C,Zuliani L,de Palma L,Cainelli E,Battistella PA,Toldo I,Suppiej A,Sartori S

更新日期：2015-02-01 00:00:00

abstract：:Concussion is a known risk in youth soccer, but little is known about subconcussive head impacts. The authors provided a prospective cohort study measuring frequency and magnitude of subconcussive head impacts using accelerometry in a middle school-age soccer tournament, and association between head impacts and change...

journal_title：Journal of child neurology

authors： Chrisman SP,Mac Donald CL,Friedman S,Andre J,Rowhani-Rahbar A,Drescher S,Stein E,Holm M,Evans N,Poliakov AV,Ching RP,Schwien CC,Vavilala MS,Rivara FP

更新日期：2016-07-01 00:00:00

abstract：:Phantosmia is an infrequently reported and poorly understood qualitative olfactory disorder characterized by the perception of a frequently unpleasant odor in the absence of an odorant stimulus. Peripheral phantosmia is hypothesized to involve abnormally active olfactory receptor neurons while central phantosmia is th...

journal_title：Journal of child neurology

authors： Yang JC,Khakoo Y,Lightner DD,Wolden SL

更新日期：2013-06-01 00:00:00

abstract：:There are conflicting reports regarding the efficacy of trihexyphenidyl, an anticholinergic drug, for treatment of dystonia in cerebral palsy. The author hypothesized that trihexyphenidyl may be more effective in specific subgroups and performed a retrospective analysis of 31 children (8.2 ± 5.8 years) with dystonia f...

journal_title：Journal of child neurology

authors： Ben-Pazi H

更新日期：2011-07-01 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：:Cavernous haemangiomas, or cavernous malformations, have been reported during pregnancy, most of which have been either supratentorial or spinal lesions. We encountered a 15-year old pregnant patient with a rapidly progressive and haemorrhagic brainstem cavernous haemangioma. The case presented here describes the hist...

journal_title：Journal of child neurology

authors： Ranger AM,Chaudhary N,Avery M,Lownie S

更新日期：2013-10-01 00:00:00

abstract：:In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin biopsies as a screening tool. The skin biopsy was very specific in establishing the diagnosis in only two disorders, namely neuronal ceroid lipofuscinosis and muc...

journal_title：Journal of child neurology

authors： Prasad A,Kaye EM,Alroy J

更新日期：1996-07-01 00:00:00

abstract：:Reversible posterior leukoencephalopathy syndrome is an increasingly recognized disorder with typical radiologic findings of bilateral gray- and white-matter abnormalities in the posterior regions of the cerebral hemispheres. The majority of patients with reversible posterior leukoencephalopathy syndrome are adults, a...

journal_title：Journal of child neurology

authors： Aydin K,Elmas S,Guzes EA

更新日期：2006-06-01 00:00:00

abstract：:Recently, a new disease entity has been defined: the disease of vanishing white matter. This leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or biochemical marker is known. We studied cerebrospinal fluid amino acids in five patients with the disease and found a consistent, moderate elevati...

journal_title：Journal of child neurology

authors： van der Knaap MS,Wevers RA,Kure S,Gabreëls FJ,Verhoeven NM,van Raaij-Selten B,Jaeken J

更新日期：1999-11-01 00:00:00

abstract：INTRODUCTION:Since its creation, patients on ketogenic diet are told to avoid liquid medications due to theoretical concerns of "hidden" carbohydrates. However, switching from liquid to tablet formulations can be problematic, especially for infants and young children. We theorized that increasing the daily ketogenic ra...

journal_title：Journal of child neurology

authors： Haney CA,Charpentier A,Turner Z,Bessone SK,Doerrer SC,Kossoff EH

更新日期：2019-06-01 00:00:00

abstract：:The infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation of autofluorescent material in man...

journal_title：Journal of child neurology

authors： Sands MS

更新日期：2013-09-01 00:00:00

abstract：:Cerebral venous sinus compression can mimic idiopathic intracranial hypertension. The authors report the case of a 12-year-old girl who presented with diplopia and papilledema 3 weeks after a head injury. Lumbar puncture confirmed raised intracranial pressure, and neuroimaging subsequently identified a skull fracture ...

journal_title：Journal of child neurology

authors： Dabscheck G,Mackay M,Coleman L,Lo P

更新日期：2007-03-01 00:00:00

abstract：:This study assessed metabolic functioning of regional brain areas to address whether there is a neurometabolic profile reflecting the underlying neuropathology in individuals with autism spectrum disorders, and if varied profiles correlate with the clinical subtypes. Thirteen children (7-16 years) with autism spectrum...

journal_title：Journal of child neurology

authors： Gabis L,Wei Huang,Azizian A,DeVincent C,Tudorica A,Kesner-Baruch Y,Roche P,Pomeroy J

更新日期：2008-07-01 00:00:00

abstract：:Metachromatic leukodystrophy is a rare disorder of myelin metabolism. This degenerative disorder results from the accumulation of cerebroside sulfatide within the myelin sheath of central and peripheral nervous system, due to deficiency of aryl sulfatase A enzyme. We report a 5-year-old male child, who presented with ...

journal_title：Journal of child neurology

authors： Mahmood A,Chacham S,Reddy UN,Rao JN,Rao SP

更新日期：2015-03-01 00:00:00

abstract：:Neural tube defects are common birth defects, the frequency of which appears to be reduced by maternal supplementation and/or fortification of folic acid. Latin Americans have a high incidence of neural tube defects. We surveyed the dietary intake of Honduran women of childbearing age using a 24-hour dietary recall qu...

journal_title：Journal of child neurology

authors： Holden KR,Collins JS,Greene JF,Hinkle S,Nave AF,Portillo JM,Page GP,Stevenson RE,Honduran Neural Tube Defect Project Team.

更新日期：2002-05-01 00:00:00

abstract：:Direct perfusion of specific regions of the central nervous system by convection-enhanced delivery is becoming more widely used for the delivery of compounds in the research and treatment of various neural disorders. In contrast to other currently available central nervous system delivery techniques, convection-enhanc...

journal_title：Journal of child neurology

authors： Song DK,Lonser RR

更新日期：2008-10-01 00:00:00

abstract：:Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis is characterized by acute- or subacute-onset encephalopathy with extrapyramidal, psychiatric, and epileptic manifestations. Diagnosis is confirmed by positive antibodies to NMDA receptor in cerebrospinal fluid and serum. Eleven pediatric cases presented over a 2-y...

journal_title：Journal of child neurology

authors： Chakrabarty B,Tripathi M,Gulati S,Yoganathan S,Pandit AK,Sinha A,Rathi BS

更新日期：2014-11-01 00:00:00