Intrafamilial phenotypic variability in tuberous sclerosis complex.

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：:In this study we investigated centrally mediated parasympathetic regulation of modulated cardiac vagal tone among children with severe cyanotic and pallid breath-holding spells by examining respiratory sinus arrhythmia. Respiratory sinus arrhythmia was evaluated in 41 children; 17 subjects with cyanotic breath-holding...

journal_title：Journal of child neurology

authors： DiMario FJ Jr,Bauer L,Baxter D

更新日期：1998-09-01 00:00:00

abstract：:We recruited 128 neonates with hyperbilirubinemia over a 5-year period (1995-2000) to study the short- and long-term effects of hemolytic hyperbilirubinemia on the auditory brainstem pathway and neurodevelopmental status. These children were divided into two groups: (1) a hemolytic group (n = 29; ABO incompatibility [...

journal_title：Journal of child neurology

authors： Chen WX,Wong VC,Wong KY

更新日期：2006-06-01 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：:In vivo magnetic resonance techniques such as magnetic resonance imaging (MRI) and magnetic resonance spectroscopy have been some of the most useful tools for evaluation of neurologic diseases. In subacute sclerosing panencephalitis, magnetic resonance spectroscopy can be an additional tool for evaluation of disease p...

journal_title：Journal of child neurology

authors： Kato Z,Asano T,Kondo N

更新日期：2006-02-01 00:00:00

abstract：:Children and adolescents with the Diagnostic and Statistical Manual of Mental Disorders-IV (DSM-IV) diagnosis of attention-deficit hyperactivity disorder (ADHD) can have comorbid conditions such as conduct disorder, oppositional defiant disorder, and obsessive-compulsive disorder (comorbid type). The purpose of our st...

journal_title：Journal of child neurology

authors： Lorberboym M,Watemberg N,Nissenkorn A,Nir B,Lerman-Sagie T

更新日期：2004-02-01 00:00:00

abstract：:The clinical picture, family history, laboratory data, treatment modalities, and outcome in 27 juvenile myasthenics seen over a 25-year period are presented. Onset was after 10 years of age in the majority of patients. Half presented with ocular signs, the other half with generalized-onset myasthenia. Half of those wi...

journal_title：Journal of child neurology

authors： Afifi AK,Bell WE

更新日期：1993-10-01 00:00:00

abstract：:Cerebral vasculitis and clinically important myocardial inflammation are rare in juvenile dermatomyositis. We report a previously healthy 6-year-old girl with dermatomyositis who died after a fulminating clinical deterioration. Postmortem examination of the heart revealed characteristic endothelial tubuloreticular agg...

journal_title：Journal of child neurology

authors： Jimenez C,Rowe PC,Keene D

更新日期：1994-07-01 00:00:00

abstract：AIM:To investigate the impact of concussion on pupillary function in children by examining pupillometric parameters and assessing for differences in children reporting photosensitivity. METHODS:Retrospective chart review was performed of pediatric patients referred for visual symptoms after concussion from 2017 to 201...

journal_title：Journal of child neurology

authors： Hsu J,Stec M,Ranaivo HR,Srdanovic N,Kurup SP

更新日期：2021-03-01 00:00:00

abstract：BACKGROUND:Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. OBJECTIVES:To report on the quality...

journal_title：Journal of child neurology

authors： Weaver MS,Hanna R,Hetzel S,Patterson K,Yuroff A,Sund S,Schultz M,Schroth M,Halanski MA

更新日期：2020-04-01 00:00:00

abstract：:Detecting silent cerebral infarcts on magnetic resonance images (MRIs) in children with sickle cell anemia is challenging, yet reproducibility of readings has not been examined in this population. We evaluated consensus rating, inter-, and intra-grader agreement associated with detecting silent cerebral infarct on scr...

journal_title：Journal of child neurology

authors： Liem RI,Liu J,Gordon MO,Vendt BA,McKinstry RC 3rd,Kraut MA,Strouse JJ,Ball WS,DeBaun MR

更新日期：2014-12-01 00:00:00

abstract：:The goal of this project was to promote bicycle helmet use via an inpatient educational program. We hypothesized that this program would increase bicycle helmet use. One hundred twenty inpatients with history of regular (>1 time per week) bicycle riding (mean age 10.0 ± 3.6 years; 67 males, 53 females; 57 whites, 59 b...

journal_title：Journal of child neurology

authors： Barnes VA,Maria BL,Caldwell AL,Hopkins I

更新日期：2013-11-01 00:00:00

abstract：:An 8-year-old girl and her 4-year-old sister presented with psychomotor retardation during the 1st year of life. This was followed by spasticity, seizures, and in the older patient, progressive loss of faculties and death. Computed tomographic and magnetic resonance imaging scans demonstrated progressive cerebral atro...

journal_title：Journal of child neurology

authors： de León GA,Crawford SE,Stack C,Darling CF,Johnson GS

更新日期：1996-01-01 00:00:00

abstract：:The association of hypoparathyroidism and ischemic stroke is rare in childhood. We report an interesting case of an 11-year-old girl diagnosed to have hypoparathyroidism and presented with an acute-onset right hemiparesis. Investigations revealed large artery ischemic stroke and uncontrolled hypoparathyroidism. Pediat...

journal_title：Journal of child neurology

authors： Dhawan SR,Jondhale SN,Sahu JK,Vyas S,Singhi PD

更新日期：2015-07-01 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：:Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) 677C>T mutation (MTHFR TT) has been linked to an increased risk for stroke, coronary artery disease, and migraine headaches. The authors analyzed the potential link between MTHFR 677C>T homozygosity and childhood stroke. A true association might facilita...

journal_title：Journal of child neurology

authors： Alsayouf H,Zamel KM,Heyer GL,Khuhro AL,Kahwash SB,de los Reyes EC

更新日期：2011-03-01 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：:This is a case report of an otherwise healthy 2-year-old boy with a history of pica, associated with iron deficiency anemia. This boy was referred to our department for a neurologic evaluation because of an acute episode of sialorrhea, difficulty in speaking, dysphagia, and repeated swallowing movements. An uncertain ...

journal_title：Journal of child neurology

authors： Mihailidou H,Galanakis E,Paspalaki P,Borgia P,Mantzouranis E

更新日期：2002-11-01 00:00:00

abstract：:Football injuries account for more concussions than any other sport in North America. A 1977 survey of high school football players in Minnesota found that 19% of players reported at least one concussion (characterized by loss of awareness) during a season. These results have not been confirmed in subsequent studies. ...

journal_title：Journal of child neurology

authors： Langburt W,Cohen B,Akhthar N,O'Neill K,Lee JC

更新日期：2001-02-01 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：:The level of parental stress in families of children with autism and other developmental disabilities and its association with child comorbid symptoms was studied in an ethnically diverse population, in a cross-sectional study with structured interview. The sample included 50 families of children with autism and 50 fa...

journal_title：Journal of child neurology

authors： Valicenti-McDermott M,Lawson K,Hottinger K,Seijo R,Schechtman M,Shulman L,Shinnar S

更新日期：2015-11-01 00:00:00

abstract：:Urinary excretion of acetylcarnitine was measured by high-performance liquid chromatography in two experimental groups of valproate-treated rats. In the urine of mature rats weighing 180 to 200 g treated with valproate (500 mg/kg/day), acetylcarnitine levels were higher than those in controls on days 4 and 7, while L-...

journal_title：Journal of child neurology

authors： Murakami K,Sugimoto T,Nishida N,Woo M,Araki A,Kobayashi Y

更新日期：1992-10-01 00:00:00

abstract：:The sphenoid sinus is often referred to as the "neglected sinus." Isolated sphenoid sinusitis is a rare disease with potentially devastating complications. It occurs at an incidence of about 2.7% of all sinus infections. Although headache is the most common presenting symptom, there is no typical headache pattern. Thr...

journal_title：Journal of child neurology

authors： Ng YT,Butler IJ

更新日期：2001-12-01 00:00:00

abstract：:Three normal children with headache occurring only with exertion were advised to try "head cooling" (eg, immersion of the head in cold water, cold water poured over the head, application of a cold, wet towel or ice pack) at the onset of headache. The patients were followed up quarterly as outpatients, and the effectiv...

journal_title：Journal of child neurology

authors： Singh RK,Martinez A,Baxter P

更新日期：2006-12-01 00:00:00

abstract：:We present the results from the evaluations of three children ages of 2, 7, and 11 years with hemiparesis and multiple white-matter lesions on magnetic resonance images (MRIs). The initial symptoms were mainly acute/subacute hemiparesis in all and headache/vomiting in one of them. Before admission, one of them had a h...

journal_title：Journal of child neurology

authors： Yapici Z,Eraksoy M

更新日期：2002-09-01 00:00:00

abstract：OBJECTIVE:We present the diagnostic and clinical course of the first multicenter case series of pediatric patients with autoimmune encephalitis associated with N-type voltage-gated calcium channel antibodies. METHODS:Data from 2 university hospitals were retrospectively reviewed and records of 3 patients with autoimmu...

journal_title：Journal of child neurology

authors： Kornitzer J,Taha F,Segal E

更新日期：2019-08-01 00:00:00

abstract：:A nondescribed behavioral disorder was observed during wake-sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic-and occasionally hypnopompic-periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which co...

journal_title：Journal of child neurology

authors： Pareja JA,Cuadrado ML,García-Morales I,Gil-Nagel A,Franch O

更新日期：2008-08-01 00:00:00

abstract：:Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene. L1 plays a key role in axon outgrowth and pathfinding during the development of the nervous syste...

journal_title：Journal of child neurology

authors： Sztriha L,Frossard P,Hofstra RM,Verlind E,Nork M

更新日期：2000-04-01 00:00:00

abstract：:There are scarce reports of childhood stroke from China. Our objective was to describe the clinical spectrum, risk factors, and imaging characteristics of childhood stroke in China. Using a hospital discharge database, children with stroke who were first admitted from 2002 to 2011 were retrospectively enrolled. We ide...

journal_title：Journal of child neurology

authors： Deng Y,Wang Y,Yang W,Yu Y,Xu J,Wang Y,Gao B

更新日期：2015-03-01 00:00:00

abstract：:Tics, patterned movements distinct from stereotypies, myoclonus, and other hyperkinetic movements, are quite common in children, particularly among those with developmental and psychiatric disorders. Thus, tics can indicate the presence of atypical neurodevelopment or broader difficulties with cognition or mood. Tics ...

journal_title：Journal of child neurology

authors： Gilbert D

更新日期：2006-08-01 00:00:00