Paramyotonia congenita in 22 members of an Arab (Omani) kindred.

abstract：:The authors report on a 45-day-old boy with a congenital intramedullary tumor with clinical manifestations since birth. Neurologic examination disclosed severe bilateral lower-limb hypotonia and diplegia, with exacerbated deep tendon reflexes and clonus associated with severe pain at manipulation. Further evaluation o...

journal_title：Journal of child neurology

authors： Nunes ML,Coutinho LM,Janisch C,Ehlers JA

更新日期：1999-07-01 00:00:00

abstract：:Cochlear implantation has altered the life-course of thousands of children who have significant hearing loss. Since the United States Food and Drug Administration approved multichannel cochlear implants for children in 1989, growing numbers of parents are choosing this option for their offspring and seeking opportunit...

journal_title：Journal of child neurology

authors： Teagle HF

更新日期：2012-06-01 00:00:00

abstract：:Children with neurodevelopmental disorders are at increased risk for sleep issues, which affect quality of life, cognitive function, and behavior. To determine the prevalence of sleep problems in children with the common neurodevelopmental disorder neurofibromatosis type 1, a cross-sectional study was performed on 129...

journal_title：Journal of child neurology

authors： Licis AK,Vallorani A,Gao F,Chen C,Lenox J,Yamada KA,Duntley SP,Gutmann DH

更新日期：2013-11-01 00:00:00

abstract：:Autism is etiologically heterogeneous; medical conditions are implicated in only a minority of cases, whereas metabolic disorders are even less common. Recently, there have been articles describing the association of autism with mitochondrial abnormalities. We critically review the current literature and conclude that...

journal_title：Journal of child neurology

authors： Lerman-Sagie T,Leshinsky-Silver E,Watemberg N,Lev D

更新日期：2004-05-01 00:00:00

abstract：:Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathe...

journal_title：Journal of child neurology

authors： Zhang LM,An Y,Pan G,Ding YF,Zhou YF,Yao YH,Wu BL,Zhou SZ

更新日期：2015-09-01 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：:We assessed pediatrician awareness of the parameter ''Evaluating the first non-febrile seizure in children'' and how the concepts of this parameter were incorporated into practice. Although most reported caring for children with seizures, 60% were not aware of the practice parameter. When given the clinical scenario o...

journal_title：Journal of child neurology

authors： Bale JF Jr,Caplin DA,Bruse JD,Folland D

更新日期：2009-12-01 00:00:00

abstract：:Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a da...

journal_title：Journal of child neurology

authors： John B,Klemm E,Haverkamp F

更新日期：2000-12-01 00:00:00

abstract：:To find out why children born extremely preterm are at heightened risk of executive dysfunctions, the authors assessed 716 children who were 10 years old born extremely preterm whose IQ was ≥ 70. A working memory dysfunction (n = 169), an inhibition dysfunction (n = 360), a switching dysfunction (355), and all 3 (exec...

journal_title：Journal of child neurology

authors： Leviton A,Joseph RM,Allred EN,O'Shea TM,Taylor HG,Kuban KKC

更新日期：2018-03-01 00:00:00

abstract：:Imaging findings of brain damage due to neonatal hypoglycemia are known; however, the effect of childhood hypoglycemia on the brain has not been described well. The authors present the case of a 6-year-old girl who had seizures secondary to hypoglycemia followed up for 1 year as epilepsy. The patient had experienced a...

journal_title：Journal of child neurology

authors： Kara C,Aydin OF,Aslan B,Gürer YK

更新日期：2007-02-01 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：: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：:A variety of endocrine and metabolic defects, including hypothalamopituitary hypofunction and diabetes mellitus, has been reported in association with mitochondrial disorders. We describe two sisters affected by mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome in whom DNA anal...

journal_title：Journal of child neurology

authors： Balestri P,Grosso S

更新日期：2000-11-01 00:00:00

abstract：:We performed a retrospective review of 65 children with developmental delay. The male-to-female ratio was 2.25 : 1, and the mean age was 5.8 years; performance IQ was 94.8, verbal IQ was 83, and full-scale IQ was 87.4. Twenty-three (35%) children had normal language development, 13 (20%) had below average language dev...

journal_title：Journal of child neurology

authors： Liao SF,Liu JC,Hsu CL,Chang MY,Chang TM,Cheng H

更新日期：2015-01-01 00:00:00

abstract：:Sonography of the posterior fontanelle is easily performed and yields exquisite details of the outline of the major structures of the posterior fossa and the tentorium. These structures are more clearly outlined through the posterior fontanelle than via the traditional anterior fontanelle approach, probably because th...

journal_title：Journal of child neurology

authors： Maertens P

更新日期：1989-01-01 00:00:00

abstract：:Development of acylcarnitine and amino acid profiling using tandem mass spectrometry, and its application for use with dried blood specimens collected on filter-paper cards, has introduced an innovative new technology for detecting inborn errors of fatty acid, organic acid, and amino acid metabolism. From November 1, ...

journal_title：Journal of child neurology

authors： Naylor EW,Chace DH

更新日期：1999-11-01 00:00:00

abstract：:Neurologic toxicity may occur as a direct effect of cancer and its therapy or indirectly because of a dysfunctional immune system. The authors report the development of axonal neuropathy, myelopathy, and leucoencephalopathy associated with glutamic acid decarboxylase-65 (GAD) antibodies in 4 children with progressive ...

journal_title：Journal of child neurology

authors： Ledet DS,Handgretinger R,Bertorini TE,Hale GA,Ribeiro RC,Khan RB

更新日期：2008-11-01 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：:Multiple sclerosis and acute disseminated encephalomyelitis are demyelinating disorders of the central nervous system that can present initially as an acute focal demyelinating syndrome. We report an 11-year-old girl who initially presented with intractable vomiting and hypertension and later developed a subacute onse...

journal_title：Journal of child neurology

authors： Mostafapour SP,Enzmann D,North W,Hahn JS

更新日期：1995-11-01 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：:Neuroblastoma is, at once, the most common and deadly extracranial solid tumor of childhood. Efforts aimed at targeting the neural characteristics of these tumors have taught us much about neural crest cell biology, apoptosis induction in the nervous system, and neurotrophin receptor signaling and intracellular proces...

journal_title：Journal of child neurology

authors： Schor NF

更新日期：2013-06-01 00:00:00

abstract：:This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented generalized hypotonia, severe psychomotor development delay, and generalized and partial seizures and was refractory to antiepileptic drugs. After the diagnosis, the patient was put on a ketogenic diet. Six months late...

journal_title：Journal of child neurology

authors： Di Pisa V,Cecconi I,Gentile V,Di Pietro E,Marchiani V,Verrotti A,Franzoni E

更新日期：2012-12-01 00:00:00

abstract：:Neurofibromatosis 1 is an autosomal dominant, multisystem disorder with myriad clinical manifestations. Between 1991 and 1998, 495 adults and children were diagnosed with neurofibromatosis 1 at a specialized neurogenetics clinic in Sydney, Australia. This review establishes the prevalence of the clinical manifestation...

journal_title：Journal of child neurology

authors： Young H,Hyman S,North K

更新日期：2002-08-01 00:00:00

abstract：:The aim of this study is to investigate the efficacy and tolerability of topiramate in a large number of children with West syndrome. The authors performed a retrospective, questionnaire-based data collection in specialized epilepsy units in Germany. Patients with West syndrome and hypsarrhythmia could be included if ...

journal_title：Journal of child neurology

authors： Korinthenberg R,Schreiner A

更新日期：2007-03-01 00:00:00

abstract：:As a community, physicians with expertise in child development and an appreciation of school-related challenges are uniquely positioned to enhance the well-being of children with specific learning disabilities. Efforts in such areas as differential diagnosis, enhancing communication between home and school and among p...

journal_title：Journal of child neurology

authors： Horowitz SH

更新日期：2004-10-01 00:00:00

abstract：:Magnetic resonance imaging is an important tool in the evaluation of patients with seizures. Frequently, abnormalities are found that lead to further, invasive testing. The first child with transient abnormal findings on magnetic resonance imaging during a time of frequent partial seizures is presented. This lesion di...

journal_title：Journal of child neurology

authors： Riela AR,Sires BP,Penry JK

更新日期：1991-04-01 00:00:00

abstract：:It was recently postulated that because increased genetic load and increased parental age are both purportedly associated with the risk to develop an autism spectrum disorder, there must be a linkage between increasing genetic load and increasing parental age in autism spectrum disorder pathogenesis. The present study...

journal_title：Journal of child neurology

authors： Geier DA,Hooker BS,Kern JK,Sykes LK,Geier MR

更新日期：2014-08-27 00:00:00

abstract：:The outcomes of children with cryptogenic seizures most probably arising from the frontal lobe are difficult to predict. We retrospectively collected data on 865 pediatric patients with epilepsy. In 78 patients with cryptogenic frontal lobe epilepsy, the age at first seizure was inversely correlated with the outcome, ...

journal_title：Journal of child neurology

authors： Lee IC,Chen YJ,Lee HS,Li SY

更新日期：2014-12-01 00:00:00

abstract：:In this era of changing priorities, regulations, and resources, it is useful to look both back and forward at the building of a division of child neurology in the context of the emergence of child neurology as a nationally and internationally recognized distinct subspecialty of both pediatrics and neurology. Both Pitt...

journal_title：Journal of child neurology

authors： Schor NF,Crumrine PK

更新日期：2003-02-01 00:00:00

abstract：:Autism is characterized by social deficits, communication and language impairments, narrow restricted interests, repetitive behaviors, inattention, and hyperactivity. While selective serotonin reuptake inhibitors have demonstrated efficacy in treating core symptoms of autism, norepinephrine reuptake inhibitors have de...

journal_title：Journal of child neurology

authors： Hollander E,Kaplan A,Cartwright C,Reichman D

更新日期：2000-02-01 00:00:00