Meralgia paresthetica in the pediatric population: a propos of 2 cases.

abstract：:The Baby Doe rules, a set of federal regulations on the treatment of extremely ill infants, went into effect in 1985. Some scholars have argued that these rules are inappropriate given that they fail to pay attention to the patient's suffering. Instead, researchers suggest that, when dealing with a severely impaired i...

journal_title：Journal of child neurology

authors： Weisleder P

更新日期：2007-06-01 00:00:00

abstract：:The few cases of antiphospholipid syndrome that have been reported in neonates are believed to have resulted from a transplacental transfer of antiphospholipid antibodies. Here we report on a boy with a neonatal stroke revealing a de novo primary antiphospholipid, the mother being free of antiphospholipid antibodies. ...

journal_title：Journal of child neurology

authors： Merlin E,Doré E,Chabrier S,Biard M,Marques-Verdier A,Stéphan JL

更新日期：2012-10-01 00:00:00

abstract：:Paroxysmal tonic upgaze of childhood is an eye movement abnormality characterized by periodic episodes of conjugate upward eye deviation. Although the spectrum of paroxysmal tonic upgaze has broadened considerably, a specific pathophysiology has not been elucidated. We report an infant with paroxysmal tonic upgaze who...

journal_title：Journal of child neurology

authors： Joseph K,Avallone J,Difazio M

更新日期：2005-02-01 00:00:00

abstract：:A 3 1/2-year-old boy presented with megaloblastic anemia and recurrent episodes of severe lactic acidosis and coma. At age 4 years, he developed sepsis and died; postmortem examination failed to show any gross abnormality in any tissue. Biochemical analysis of muscle showed decreased activities for all respiratory cha...

journal_title：Journal of child neurology

authors： Akman CI,Sue CM,Shanske S,Tanji K,Bonilla E,Ojaimi J,Krishna S,Schubert R,DiMauro S

更新日期：2004-04-01 00:00:00

abstract：:We describe a 13-year-old female with abrupt onset urinary retention progressing rapidly to pandysautonomia with symptoms of postural orthostatic tachycardia syndrome, gastroparesis, anhidrosis, pupillary dysfunction, and abdominal pain. Pandysautonomia has been reported frequently in adults, but is less commonly desc...

journal_title：Journal of child neurology

authors： Clark MB,Davis T

更新日期：2013-12-01 00:00:00

abstract：:We report the case of a 15-month-old critically ill child with stimulus-induced diffuse voltage attenuation, a previously unreported electroencephalogram pattern. No clinical evidence of seizure activity was associated with these EEG changes. The patient went on to have a full recovery. This case suggests that critica...

journal_title：Journal of child neurology

authors： Losey TE,Ng YT

更新日期：2009-04-01 00:00:00

abstract：:The standard physical examination evaluation for a proprioception abnormality depends upon the patient's ability to follow directions and respond to the examiner, a skill not yet developed in toddlers. This study demonstrates a new proprioception examination method that may allow for better localization of lesions and...

journal_title：Journal of child neurology

authors： Gray EM,Tomlison KG,Kileny S,Leber SM

更新日期：2019-03-01 00:00:00

abstract：:We explored child neurologists' attitudes toward taking on the role of health care surrogate for terminally ill children. Physician members of the Child Neurology Society were sent a 16-question survey via email. Of the assumed 1050 recipients, 116 (11%) answered the questionnaire. Most individuals who have been in pr...

journal_title：Journal of child neurology

authors： Weisleder P,Perkins E,McLaughlin A

更新日期：2011-03-01 00:00:00

abstract：:In the literature, several malformations of cortical development have been described as additional lesions in tuberous sclerosis complex. Among these lesions, a very large focal cortical dysplasia has peculiar magnetic resonance imaging features: a signal abnormality that extends radially inward toward the lateral ven...

journal_title：Journal of child neurology

authors： Vigliano P,Canavese C,Bobba B,Genitori L,Papalia F,Padovan S,Forni M

更新日期：2002-10-01 00:00:00

abstract：:Movement disorders, a common problem in children with neurologic impairment, are receiving increasing clinical attention. The differences in movement disorders between adults and children are striking; presentation is frequently insidious and may be characterized by mild hypotonia. The clinical manifestations of extra...

journal_title：Journal of child neurology

authors： Edgar TS

更新日期：2003-09-01 00:00:00

abstract：:Autism spectrum disorders are neurodevelopmental disorders that are thought to be caused by a gene-by-environment interaction and in which various immune alterations are reported. We investigate CD4(+) T-cell cytokine profiles and subpopulations in 19-year-old monozygotic twins with autism and different comorbidities....

journal_title：Journal of child neurology

authors： Magid-Bernstein J,Mahajan K,Lincoln J,Ming X,Rohowsky-Kochan C

更新日期：2015-03-01 00:00:00

abstract：:To identify early predictive factors of outcome in childhood epilepsy, the case records of all children with new-onset epilepsy presenting to a single neurology practice over a 10-year interval were reviewed. Only children with more than 2 years of follow-up were included. Cox regression analysis was used to identify ...

journal_title：Journal of child neurology

authors： Oskoui M,Webster RI,Zhang X,Shevell MI

更新日期：2005-11-01 00:00:00

abstract：:Fumarase deficiency is a very rare inborn error of metabolism caused by decreased activity of fumarate hydratase enzyme. We describe a fumarase-deficient infant who presented with encephalopathy, metabolic crisis, psychomotor retardation, hypotonia, seizures, and facial dysmorphism. To our knowledge, this is the first...

journal_title：Journal of child neurology

authors： Saini AG,Singhi P

更新日期：2013-04-01 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：: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：:Making an accurate diagnosis is the first and most critical step in the treatment of pediatric epilepsy, but it can be a daunting challenge for clinicians. Seizure types and syndromes in infants and very young children do not present with the same clarity and consistency as in adults. Work is currently being done to r...

journal_title：Journal of child neurology

authors： Nordli DR Jr

更新日期：2002-01-01 00:00:00

abstract：:Using diffusion tensor imaging tractography and color-coded anisotropy map quantification, we investigated asymmetry of the arcuate fasciculus to determine language laterality in children and compared it with the Wada test. Arcuate fasciculus volume and fractional anisotropy were measured after tractography. We also q...

journal_title：Journal of child neurology

authors： Tiwari VN,Jeong JW,Asano E,Rothermel R,Juhasz C,Chugani HT

更新日期：2011-12-01 00:00:00

abstract：:Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interestin...

journal_title：Journal of child neurology

authors： Yaris N,Aynaci FM,Kalyoncu M,Odemiş E,Okten A

更新日期：2004-01-01 00:00:00

abstract：:Neurofibromatosis type 1 is associated with executive dysfunctions and comorbidity with attention-deficit hyperactivity disorder (ADHD) in 30% to 50% of children. This study was designed to clarify the neurocognitive phenotype observed in neurofibromatosis type 1 by testing the hypothesis that children with neurofibro...

journal_title：Journal of child neurology

authors： Galasso C,Lo-Castro A,Di Carlo L,Pitzianti MB,D'Agati E,Curatolo P,Pasini A

更新日期：2014-10-01 00:00:00

abstract：:We describe the brain magnetic resonance imaging (MRI) findings in eight neonates with tuberous sclerosis complex to further delineate the spectrum of characteristic findings in these patients. In addition to the previously described characteristic brain MRI findings in neonates, which included cortical tuber, transma...

journal_title：Journal of child neurology

authors： Arca G,Pacheco E,Alfonso I,Duchowny MS,Melnick SJ

更新日期：2006-04-01 00:00:00

abstract：:Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease characterized by early-onset and slowly progressive cerebellar ataxia, areflexia, and peripheral neuropathy. Ocular apraxia is most prominent in the early stage of the disease, by contrast, hypoalbuminemia, hypercholesterolemia, and cogniti...

journal_title：Journal of child neurology

authors： D'Arrigo S,Riva D,Bulgheroni S,Chiapparini L,Castellotti B,Gellera C,Pantaleoni C

更新日期：2008-08-01 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：: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：: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：:Gelastic seizure is a rare symptom often associated with hypothalamic hamartoma. We present here a 4-year-old girl with gelastic epilepsy caused by hypothalamic hamartoma and report the magnetic resonance spectrometry and electroencephalographic (EEG) findings. At the age of 2 1/2 years, she developed brief, repetitiv...

journal_title：Journal of child neurology

authors： Wakai S,Nikaido K,Nihira H,Kawamoto Y,Hayasaka H

更新日期：2002-01-01 00:00:00

abstract：:Maternal intrauterine inflammation has been implicated in the development of periventricular leukomalacia and white matter injury in the neonate. We hypothesized that intrauterine endotoxin administration would lead to microstructural changes in the neonatal rabbit white matter in vivo that could be detected at birth ...

journal_title：Journal of child neurology

authors： Saadani-Makki F,Kannan S,Makki M,Muzik O,Janisse J,Romero R,Chugani D

更新日期：2009-09-01 00:00:00

abstract：:A 12-year-old boy presented with complaints of seizures since the age of 7 years. Seizure semiology was consistent with origin from the right temporal lobe. Magnetic resonance imaging of the brain revealed a large right temporal and multiple small intracranial cavernomatous hemangiomas. The imaging findings and clinic...

journal_title：Journal of child neurology

authors： Sharma S,Sankhyan N,Gulati S,Kumar A

更新日期：2010-11-01 00:00:00

abstract：:The objective of this study was to determine the impact of migraine headaches on health-related quality of life among Canadian adolescents. The Canadian Community Health Survey (CCHS) collects information related to health status, health care utilization, and health determinants for the Canadian population. Analysis w...

journal_title：Journal of child neurology

authors： Brna P,Gordon K,Dooley J

更新日期：2008-01-01 00:00:00

abstract：:To date, no study has evaluated changes in oral labial angle as preterm infants mature. The main purpose of this study was to document goniometer measurements of the labial angle of the mouth in preterm infants, to assess changes with development, to compare to findings in healthy term infants, and also evaluate oral ...

journal_title：Journal of child neurology

authors： Ince DA,Tugcu AU,Ecevit A,Ciyiltepe M,Kurt A,Abbasoğlu A,Tekindal MA,Tarcan A

更新日期：2015-10-01 00:00:00

abstract：:Growth failure is nearly universal in spinal muscular atrophy type 1 and common in type 2, although acuity is often underappreciated at initial diagnosis. We reviewed 44 consecutive spinal muscular atrophy patients (28 type 1, 16 type 2) under 3 years at initial presentation. Growth failure was conventionally defined:...

journal_title：Journal of child neurology

authors： Sproule DM,Hasnain R,Koenigsberger D,Montgomery M,De Vivo DC,Kaufmann P

更新日期：2012-07-01 00:00:00