Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.

abstract：:Nonconvulsive status epilepticus may present with several manifestations, and many of them may not be obvious. The most important for the diagnosis of nonconvulsive status epilepticus is the electroencephalogram pattern. This is a case report of a 9-year-old boy with severe and continuous headache. He received chemoth...

journal_title：Journal of child neurology

authors： Ghofrani M,Mahvelati F,Tonekaboni H

更新日期：2007-05-01 00:00:00

abstract：:Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. The infantile form is severe: the main clinical findings are neurologic signs, associated with hematological signs and bone alterati...

journal_title：Journal of child neurology

authors： Cerbo RM,Cabano R,Lombardi G,Bollani L,Colombo R,Stronati M

更新日期：2010-03-01 00:00:00

abstract：:Ketogenic therapy is now an accepted treatment for pediatric and adult patients with medically refractory epilepsy.1-3 However, young adults treated with a ketogenic diet face unique challenges when transitioning to adult neurology providers.4 The variable acceptance of dietary therapy, paucity of nutritionists and ad...

journal_title：Journal of child neurology

authors： Seaborg K,Wang X,Olson C,Felton EA

更新日期：2020-11-01 00:00:00

abstract：:We report the clinical, electroencephalographic, neurophysiologic, and neuroimaging findings in eight children with infant-onset progressive myoclonus epilepsy, all of whom had muscle biopsies performed as as part of the diagnostic evaluation. Each child had myoclonic seizures, generalized tonic-clonic seizures, and n...

journal_title：Journal of child neurology

authors： Harbord MG,Hwang PA,Robinson BH,Becker LE,Hunjan A,Murphy EG

更新日期：1991-04-01 00:00:00

abstract：:We report the unique case of late-onset pancraniosynostosis presenting with rapid visual deterioration, without other symptoms of increased intracranial pressure. A 10-year-old girl had episodes of blurry vision for 1 month. Magnetic resonance imaging (MRI) demonstrated a borderline Chiari I malformation. Ophthalmolog...

journal_title：Journal of child neurology

authors： Bonfield CM,Tamber MS,Losee JE

更新日期：2014-08-01 00:00:00

abstract：:The purpose of this study was to examine the psychiatric characteristics of children with Prader-Willi syndrome in Korea, focusing particularly on their behavioral problems and obsessive-compulsive spectrum symptoms. Fourteen patients with Prader-Willi syndrome, together with their parents, underwent a psychiatric int...

journal_title：Journal of child neurology

authors： Kim JW,Yoo HJ,Cho SC,Hong KE,Kim BN

更新日期：2005-02-01 00:00:00

abstract：:Smith-Magenis syndrome is a multiple congenital anomalies/mental retardation syndrome associated with a heterozygous deletion of chromosome 17p11.2. Seizures have not been formally studied in this population. Our objectives were to estimate the prevalence of seizures and electroencephalographic (EEG) epileptiform abno...

journal_title：Journal of child neurology

authors： Goldman AM,Potocki L,Walz K,Lynch JK,Glaze DG,Lupski JR,Noebels JL

更新日期：2006-02-01 00:00:00

abstract：:Subacute sclerosing panencephalitis is an encephalopathy caused by a persistent measles virus infection. We examined a 13-year-old girl with subacute sclerosing panencephalitis and performed a magnetic resonance spectroscopic study to evaluate the in vivo pathophysiologic abnormality. The results suggested the occurre...

journal_title：Journal of child neurology

authors： Kato Z,Saito K,Yamada M,Asano T,Kondo N

更新日期：2002-10-01 00:00:00

abstract：:Basilar artery occlusion in children is rare. The clinical diagnosis of basilar artery occlusion is often difficult because the initial neurologic findings, most frequently hemiparesis, involuntary movements, or headache, are often transient and can suggest complicated migraine, seizures, or both. We have reviewed 37 ...

journal_title：Journal of child neurology

authors： Rosman NP,Adhami S,Mannheim GB,Katz NP,Klucznik RP,Muriello MA

更新日期：2003-07-01 00:00:00

abstract：:We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin metabolism defects. The majority of cases were clinically diagnos...

journal_title：Journal of child neurology

authors： Karam PE,Daher RT,Moller LB,Mikati MA

更新日期：2011-02-01 00:00:00

abstract：:This is the first study to evaluate the efficacy of riboflavin for migraine prophylaxis in children. This was a randomized, double-blind study of riboflavin (200 mg daily) versus placebo in 48 children. The primary efficacy measure was the number of patients achieving a 50% or greater reduction in the number of migrai...

journal_title：Journal of child neurology

authors： MacLennan SC,Wade FM,Forrest KM,Ratanayake PD,Fagan E,Antony J

更新日期：2008-11-01 00:00:00

abstract：:Rett syndrome is a neurodevelopmental disorder predominately affecting females. The majority of patients have epilepsy in the early stages of the disease. This study evaluates the clinical course of epilepsy and the effect of antiepileptic drug treatment in Rett syndrome using retrospective data analysis. Epilepsy was...

journal_title：Journal of child neurology

authors： Krajnc N,Župančič N,Oražem J

更新日期：2011-11-01 00:00:00

abstract：:The epilepsies in childhood are classified as primary (or idiopathic) and secondary (or symptomatic). The primary epilepsies account for two thirds of all childhood epilepsies and are presumed to be genetically determined. In the remaining one third of cases, a neuropathologic lesion can be identified. This paper summ...

journal_title：Journal of child neurology

authors： Armstrong DD,Mizrahi EM

更新日期：1998-08-01 00:00:00

abstract：:Adolescence is an important period, marked by significant changes in biological and psychosocial domains. Epilepsy is a chronic neurologic disorder associated with social stigma and prejudice. The etiology of depression in epilepsy appears to be a complex interplay between psychosocial and neurobiologic factors. This ...

journal_title：Journal of child neurology

authors： Nnajekwu CO,Nnajekwu UC,Ikefuna NA,Ojinnaka CN

更新日期：2021-02-01 00:00:00

abstract：:Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. Epidemiologic data suggest that malnutrition is a common feature in amyotrophic lateral sclerosis and being overweight or obese confers a survival advantage in this patient population. In amyotrophic lateral sclerosis mouse models, a high-fat diet has...

journal_title：Journal of child neurology

authors： Paganoni S,Wills AM

更新日期：2013-08-01 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：:Neuromyelitis optica is a rare, severe idiopathic disease that predominantly involves optic nerves and spinal cord. Main clinical features of neuromyelitis optica are visual loss, paraparesis or tetraparesis, sensory loss, and sphincter dysfunction. A 13-year-old girl with vision loss and behavioral change was admitte...

journal_title：Journal of child neurology

authors： Yavuz H,Kiresi D

更新日期：2013-05-01 00:00:00

abstract：:The intrauterine onset of convulsive syndromes has been documented only rarely, and previous reports have lacked detailed neuropathologic description. This report details a case of severe, intractable myoclonic encephalopathy, which, on the basis of severely abnormal paroxysmal fetal movement patterns confirmed by ant...

journal_title：Journal of child neurology

authors： du Plessis AJ,Kaufmann WE,Kupsky WJ

更新日期：1993-04-01 00:00:00

abstract：:Clinical manifestations were retrospectively assessed in 5 families with tuberous sclerosis complex, including 1 pair of monozygotic twins. Interfamilial variation in tuber count was significantly larger than intrafamilial variation. Severity of epilepsy and cognitive profiles varied both between and within families, ...

journal_title：Journal of child neurology

authors： Lyczkowski DA,Conant KD,Pulsifer MB,Jarrett DY,Grant PE,Kwiatkowski DJ,Thiele EA

更新日期：2007-12-01 00:00:00

abstract：:Acute focal neurologic deficits are a rare but known presentation of ornithine transcarbamylase deficiency, particularly in females. We describe here a 6-year-old girl with newly diagnosed ornithine transcarbamylase deficiency who presents with an episode of acute cortical blindness lasting for 72 hours in the absence...

journal_title：Journal of child neurology

authors： Prasun P,Altinok D,Misra VK

更新日期：2015-05-01 00:00:00

abstract：:We sent questionnaires concerning the current therapy for West syndrome to 208 institutions at which pediatric care members of the Japan Epilepsy Society were working. Of these, 129 (62%) institutions responded. Vitamin B6 was the preferred first-line drug, followed by the combination of vitamin B6 and valproate or mo...

journal_title：Journal of child neurology

authors： Ito M,Seki T,Takuma Y

更新日期：2000-06-01 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：:Acute disseminated encephalomyelitis is a monophasic inflammatory demyelinating disease of the central nervous system involving the white matter, and to a lesser extent, the gray matter. Bilateral thalamic lesions have been reported in 12% of pediatric patients with acute disseminated encephalomyelitis. In most cases,...

journal_title：Journal of child neurology

authors： Dardiotis E,Kountra P,Kapsalaki E,Protogerou G,Markopoulou K

更新日期：2009-08-01 00:00:00

abstract：:Isolated sulfite oxidase deficiency is a rare autosomal recessive disorder of the newborn that can be mistaken for neonatal asphyxia. Diffusion-weighted imaging of the brain demonstrates widespread diffusion restriction, and proton magnetic resonance spectroscopy shows an elevated lactate level, a decrease in the rati...

journal_title：Journal of child neurology

authors： Eichler F,Tan WH,Shih VE,Grant PE,Krishnamoorthy K

更新日期：2006-09-01 00:00:00

abstract：:The clinical label attention deficit hyperactivity disorder (ADHD) suggests that this syndrome is a disorder of attention. However, the presumed attentional deficits have not been linked either to specific cognitive operations or to specific neural systems. To provide this link, theories of the cognitive anatomy of at...

journal_title：Journal of child neurology

authors： Swanson JM,Posner M,Potkin S,Bonforte S,Youpa D,Fiore C,Cantwell D,Crinella F

更新日期：1991-01-01 00:00:00

abstract：:Extensive optic nerve demyelinating lesions on magnetic resonance imaging (MRI) in adults could indicate a diagnosis other than multiple sclerosis with worse prognosis such as neuromyelitis optica. We report the frequency of longitudinally extensive lesions in children with first events of optic neuritis. Subjects had...

journal_title：Journal of child neurology

authors： Graves J,Kraus V,Soares BP,Hess CP,Waubant E

更新日期：2015-01-01 00:00:00

abstract：:The size and reactivity to light of the pupil in infants with intraventricular hemorrhage has been variously described in the literature. These descriptions have included miosis, reactivity to light, nonreactivity to light, and anisocoria. We studied the size and light reactivity of 20 infants with intraventricular he...

journal_title：Journal of child neurology

authors： Isenberg SJ,Vazquez M

更新日期：1994-10-01 00:00:00

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：:Spinal muscular atrophy is one of the most heterogeneous of the single-gene neuromuscular disorders. The broad spectrum of severity, with onset from the prenatal period to adulthood, presents unique challenges in the design and implementation of clinical trials. The clinical classification of subjects into severe (typ...

journal_title：Journal of child neurology

authors： Swoboda KJ,Kissel JT,Crawford TO,Bromberg MB,Acsadi G,D'Anjou G,Krosschell KJ,Reyna SP,Schroth MK,Scott CB,Simard LR

更新日期：2007-08-01 00:00:00

abstract：:Multiple etiologies should be considered in the differential diagnosis of immunocompromised patients with non-central nervous system cancer and viral infections who develop mutism. Acute cerebellitis, caused by infections or by neurotoxicity resulting from chemotherapy; paraneoplastic cerebellar degeneration; atypical...

journal_title：Journal of child neurology

authors： Helton K,Patterson AL,Khan RB,Sadighi ZS

更新日期：2017-08-01 00:00:00