Blindness from late presenting undiagnosed pancraniosynostosis mimicking pseudotumor cerebri.

abstract：:CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a progressive neurodegenerative condition, associated with mutations in the notch3 gene. Symptoms include migraine with aura, mood disorders, progressive cognitive decline, subcortical ischemic strokes, dementia, an...

journal_title：Journal of child neurology

authors： Hartley J,Westmacott R,Decker J,Shroff M,Yoon G

更新日期：2010-05-01 00:00:00

abstract：:There are limited data on the pattern and prevalence of pediatric chronic neurologic conditions in the region. Therefore, the objective of this study was to establish the prevalence of these disorders in the Kingdom of Saudi Arabia. A multistage probability sampling design was used to select a random sample of Saudi h...

journal_title：Journal of child neurology

authors： Al Salloum AA,El Mouzan MI,Al Omar AA,Al Herbish AS,Qurashi MM

更新日期：2011-01-01 00:00:00

abstract：:Seizures occur in 25% to 40% of children with supratentorial tumors and are the presenting complaint in 10% to 15%. However, when divided by age, only 2% of children with seizures as the presenting complaint of brain tumors were less than 1 year of age. Three children, ranging in age from 20 days to 7 months and seen ...

journal_title：Journal of child neurology

authors： Rutledge SL,Snead OC 3rd,Morawetz R,Chandra-Sekar B

更新日期：1987-07-01 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：: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

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：:Two children with neurofibromatosis and a chief complaint of severe, episodic, unilateral facial itching were found to have brainstem glioma. Initial computerized tomography of the brain was thought to be normal, but the brainstem tumor was subsequently demonstrated on magnetic resonance imaging. The paroxysmal facial...

journal_title：Journal of child neurology

authors： Summers CG,MacDonald JT

更新日期：1988-07-01 00:00:00

abstract：:An epileptic syndrome of benign nocturnal childhood occipital epilepsy with excellent prognosis is described. The syndrome is characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. There may be marching to involve the head and limbs, ending with a generalized tonic-cl...

journal_title：Journal of child neurology

authors： Panayiotopoulos CP

更新日期：1989-01-01 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：:Congenital myasthenic syndromes are inherited disorders caused by various defects in neuromuscular transmission. Although the typical presentation is fatigable weakness with prominent cranial involvement, neonates can lack these hallmark manifestations, and in those with choline acetyltransferase gene mutations, basal...

journal_title：Journal of child neurology

authors： Dilena R,Abicht A,Sergi P,Comi GP,Di Fonzo A,Chidini G,Natacci F,Barbieri S,Lochmüller H

更新日期：2014-03-01 00:00:00

abstract：:Pediatric headache patients often experience significant sleep disturbance, which may be a risk factor for poor physical, academic, and emotional functioning, including increased anxiety/fear. The current retrospective cohort study of a clinical sample of youth with persistent headache aimed to examine the impact of s...

journal_title：Journal of child neurology

authors： Clementi MA,Chang YH,Gambhir R,Lebel A,Logan DE

更新日期：2020-03-01 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：:At present, both migraine and tension-type headaches in children are believed to be chronic primary headaches. Meningeal signs in both cases are ignored or not examined, and the neurologic status is considered normal. This is the first study that focuses on meningeal signs in children with chronic headaches. The study...

journal_title：Journal of child neurology

authors： Almazov I,Brand N

更新日期：2006-05-01 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：:We previously reported that patients with spinal muscular atrophy do not lose muscle strength over time as measured quantitatively. However, we noted that many patients with spinal muscular atrophy suffer from what they call fatigue. We wondered if we could measure fatigue during a single maximal voluntary contraction...

journal_title：Journal of child neurology

authors： Iannaccone ST,White M,Browne R,Russman B,Buncher R,Samaha FJ

更新日期：1997-08-01 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：:We aimed to decrease practice variation in treatment of neonatal status epilepticus by implementing a standardized protocol. Our primary goal was to achieve 80% adherence to the algorithm within 12 months. Secondary outcome measures included serum phenobarbital concentrations, number of patients progressing from seizu...

journal_title：Journal of child neurology

authors： Harris ML,Malloy KM,Lawson SN,Rose RS,Buss WF,Mietzsch U

更新日期：2016-12-01 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：:Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of mitochondrial DNA, the reverse ...

journal_title：Journal of child neurology

authors： Orcesi S,Gorni K,Termine C,Uggetti C,Veggiotti P,Carrara F,Zeviani M,Berardinelli A,Lanzi G

更新日期：2006-01-01 00:00:00

abstract：:Fusiform dilation of the internal carotid artery complicates aggressive craniopharyngioma resection and occurs mainly in children. We report a case to describe the availability of endovascular treatment for this rare entity. A 13-year-old boy presented with headache for 2 years after resection of craniopharyngioma. A ...

journal_title：Journal of child neurology

authors： Li Q,Wang C,Xu J,You C

更新日期：2015-09-01 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：:Three children presented with a complex syndrome of atypical psychotic and extremely immature behavior, obesity and overgrowth, borderline retardation, and seizures (prominent in two). Weight overgrowth exceeded height overgrowth and was stratospheric (up to 8 SD above mean). Obesity seemed related to lack of satiety....

journal_title：Journal of child neurology

authors： Jobe A,Lewis D,Wainwright M,DeLong GR

更新日期：2000-08-01 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：: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：:This study investigated the efficacy and tolerability of potassium bromide in 113 patients (aged, 1-20 years) with severe epilepsy and generalized tonic-clonic seizures. Potassium bromide was started at 45 mg/kg and raised to 70 mg/kg (median). Steady-state blood level was reached after a median of 28 days (range, 5-9...

journal_title：Journal of child neurology

authors： Korinthenberg R,Burkart P,Woelfle C,Moenting JS,Ernst JP

更新日期：2007-04-01 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：:During the 4-year period, 1982-1986, 18 patients presented to the Children's Hospital, Camperdown, Sydney, with the following features: (1) Recurrent "absences" clinically indistinguishable from childhood absence epilepsy, (2) Normal clinical examination, (3) Electroencephalogram (EEG) demonstrating normal waking back...

journal_title：Journal of child neurology

authors： North KN,Ouvrier RA,Nugent M

更新日期：1990-10-01 00:00:00

abstract：:Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detec...

journal_title：Journal of child neurology

authors： Mazzei R,Conforti FL,Muglia M,Sprovieri T,Patitucci A,Magariello A,Gabriele AL,Quattrone A

更新日期：2003-04-01 00:00:00

abstract：AIM:To investigate etiology and prognostic significance of pontine tegmentum lesions accompanying a cluster of acute flaccid myelitis. METHOD:We retrospectively examined patients from 6 centers in Turkey who manifested encephalitis or myelitis associated with dorsal pontine lesions on magnetic resonance imaging (MRI) ...

journal_title：Journal of child neurology

authors： Bastemur M,Gocmen R,Parlak S,Yuksel D,Arslan EA,Okten AY,Iscan A,Ekici B,Anlar B

更新日期：2020-07-01 00:00:00

abstract：:This population-based cross-sectional study evaluates the clinical value of electroretinography and visual evoked potentials in childhood brain tumor survivors. A flash electroretinography and a checkerboard reversal pattern visual evoked potential (or alternatively a flash visual evoked potential) were done for 51 su...

journal_title：Journal of child neurology

authors： Pietilä S,Lenko HL,Oja S,Koivisto AM,Pietilä T,Mäkipernaa A

更新日期：2016-07-01 00:00:00