Abstract:
:Four families are described with an autosomal dominant illness characterized by the childhood onset of recurrent attacks of prolonged ataxia, server vertigo, and vomiting. The attacks often begin in infancy. On the average, attacks occur monthly, and last between one hour to more than a week. Variations in severity occur within families. During an attack, consciousness is unaltered, but severe vertigo makes walking impossible and vomiting is frequent and severe. An attack is marked by horizontal and vertical jerk nystagmus, accompanied by vertigo which is sometimes worsened by position; however, there is no muscular weakness. During an attack, blood gases, ammonia, and amino acid studies are normal. Between attacks patients manifest combinations of slight horizontal or vertical jerk nystagmus or mild clumsiness. Cochlear and labyrinthine studies and neurologic investigations were noncontributory. Conventional therapies for vertigo, epilepsy, and migraine were ineffective, but acetazolamide (250-500 mg/day) stopped the attacks.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Tibbles JA,Camfield PR,Cron CC,Farrell Kdoi
10.1016/0887-8994(86)90037-8subject
Has Abstractpub_date
1986-01-01 00:00:00pages
35-8issue
1eissn
0887-8994issn
1873-5150pii
0887-8994(86)90037-8journal_volume
2pub_type
杂志文章abstract::Encephalopathy has been demonstrated to be associated with respiratory syncytial virus bronchiolitis. In this study, the data on all patients less than 14 years of age hospitalized with respiratory syncytial virus bronchiolitis over the past 4 years was reviewed. Patients who had concomitant diagnoses consistent with ...
journal_title:Pediatric neurology
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更新日期:2005-05-01 00:00:00
abstract:BACKGROUND:Excessive gum-chewing is underreported as a headache precipitant in children and adolescents. We evaluated the influence of daily excessive gum-chewing in older children and teenagers with chronic headache, emphasizing the impact of habit discontinuation and its reintroduction. METHODS:Patients with chronic...
journal_title:Pediatric neurology
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更新日期:2014-01-01 00:00:00
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journal_title:Pediatric neurology
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更新日期:2016-02-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/S0887-8994(03)00417-X
更新日期:2004-02-01 00:00:00
abstract::A boy presented with hypertension, seizures, lethargy, headache, and occipital blindness. He improved with antihypertensive therapy. Other reported children with a similar distinctive clinical condition are compared with adults with a syndrome termed reversible posterior leukoencephalopathy. Because both gray and whit...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s0887-8994(96)00292-5
更新日期:1997-02-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2009.09.012
更新日期:2010-02-01 00:00:00
abstract::Three brothers, born to parents who were first cousins, were referred for progressive diffuse dystonia. Initial physical examinations revealed minor dysmorphic features, e.g., bifrontal narrowing, downslanting palpebral fissures, low-set ears, upturned nostrils, and microretrognathia, as well as neurodevelopmental del...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.01.008
更新日期:2010-05-01 00:00:00
abstract::Assumption of the vertical position and independent walking are potentially hazardous motor milestones in the developing infant. It has been presumed that the parachute reactions evolved to protect infants from injury during this developmental stage. To determine the relationship between the appearance of the upper an...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(94)90087-6
更新日期:1994-07-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(98)00036-8
更新日期:1998-08-01 00:00:00
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journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(00)00177-6
更新日期:2000-08-01 00:00:00
abstract::The neuropsychologic function and white matter changes observed on magnetic resonance imaging (MRI) in Cockayne syndrome were studied. MRI with T2-weighted sequences revealed periventricular hyperintensity and white matter hyperintensity in all 3 Cockayne syndrome patients examined; in contrast, 8 age-matched controls...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(92)90369-a
更新日期:1992-07-01 00:00:00
abstract::Mitochondrial diseases comprise a group of complex and heterogeneous genetic disorders. Variable clinical features present a major challenge in pediatric diagnoses. From January 1984-June 2009, 69 patients were diagnosed with either syndromic mitochondrial diseases or nonsyndromic mitochondrial diseases. Clinical mani...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.04.015
更新日期:2010-09-01 00:00:00
abstract::Adenylosuccinate lyase (ASL) deficiency is a defect in purine de novo synthesis pathway. The disease has variable clinical presentation involving psychomotor retardation, seizures, hypotonia, and autism. The presence of succinyladenosine and succinylaminoimidazole carboxamide riboside (SAICA riboside) in body fluids c...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(97)89979-1
更新日期:1997-04-01 00:00:00
abstract::Three siblings, devoid of hair at birth, had an unusual autosomal recessive disorder characterized by universal congenital alopecia, microcephaly, seizures, psychomotor retardation, and severe growth failure. Metabolic and chromosome studies were normal. Skin biopsies disclosed immature hair follicles, some of which w...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(87)90037-3
更新日期:1987-03-01 00:00:00
abstract::Rhizomelic chondrodysplasia punctata is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, failure to thrive, and psychomotor retardation. This report describes a newborn with a severe phenotype whose ne...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2007.07.006
更新日期:2007-11-01 00:00:00
abstract:BACKGROUND:We describe the growth and nutritional status of children with cerebral palsy (2 to 18 years old) in West China and to explore the correlation between the nutritional status and age, gender, and gross and fine motor function. METHODS:We performed a cross-sectional survey of children registered as having cer...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.01.002
更新日期:2016-05-01 00:00:00
abstract::A 6-year-old, previously healthy male presented with fever and lethargy. Tuberculous meningitis was suspected after cerebrospinal fluid examination. Antituberculous drugs were administered, and an initial computed tomographic scan of brain revealed mild ventriculomegaly only. Steroids were instituted on day 16 and gra...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.pediatrneurol.2004.05.008
更新日期:2004-11-01 00:00:00
abstract::The most common clinical syndromes associated with 3-methylglutaconic aciduria are presented. In some patients these syndromes are multisystemic, progressive disorders of unknown etiology. Tissues deriving significant energy through oxidative metabolism (notably brain and cardiac muscle) are most often affected and in...
journal_title:Pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/0887-8994(93)90046-f
更新日期:1993-03-01 00:00:00
abstract:BACKGROUND:Individuals with Duchenne muscular dystrophy have an increased risk of long bone fractures. Such fractures are sometimes associated with brain dysfunction due to fat embolism syndrome, although this syndrome has seldom been documented in muscular dystrophy patients. PATIENT DESCRIPTION:We describe a child w...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2016.05.013
更新日期:2016-10-01 00:00:00
abstract::This report describes two patients, a father and son, with autosomal dominant Emery-Dreifuss muscular dystrophy. Although the father had the common phenotype, the son had a severe phenotype including early onset of weakness and fatal cardiomyopathy in childhood. Among the patients with severe phenotype of autosomal do...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2004.12.011
更新日期:2005-05-01 00:00:00
abstract:BACKGROUND:Neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders. A better understanding of genotype-phenotype-histology correlation is expected to improve patient care and enhance understanding for phenotypic variability. This meta-analysis studies the correlation of NCL genotypes with cli...
journal_title:Pediatric neurology
pub_type: 杂志文章,meta分析,评审
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更新日期:2016-07-01 00:00:00
abstract:BACKGROUND:Autopsy studies in Rasmussen encephalitis reveal areas of sparing within the affected hemisphere. Clinical progression and inflammation are milder with an older onset. We sought to demonstrate radiological corroboration for these patterns. METHODS:In our retrospective study, 38 cases were dichotomized into ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2020.07.016
更新日期:2020-11-01 00:00:00
abstract::A 5-year-old girl with hemolytic uremic syndrome is reported with pituitary hemorrhage in the acute phase. Seizures, hemiplegia, and transient blindness were observed. These symptoms cannot be attributed to the pituitary hemorrhage; however, pituitary hemorrhage should be added to the list of neurologic lesions that c...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(92)90059-8
更新日期:1992-01-01 00:00:00
abstract:BACKGROUND:Pediatric patients with epilepsy are at risk for low vitamin D levels, increasing the risk for bone fractures, yet standardized bone health screening is not part of routine care. METHODS:We surveyed pediatric neurologists (n = 68) at our center regarding screening practices, using an 11-item survey; constru...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2019.06.020
更新日期:2020-01-01 00:00:00
abstract::Nonuniform pathologic changes in chronic inflammatory demyelinating polyneuropathy were previously reported only in adult humans. We analyzed the pathologic features of 12 children, aged 2-17 years, with chronic inflammatory demyelinating polyneuropathy. Six patients manifested a preceding illness. Five patients prese...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2010.04.001
更新日期:2010-08-01 00:00:00
abstract::The acute effects of low-dose clonazepam on seizure frequency in children with epilepsy was evaluated. In an open study, 19 children with epilepsy (15 generalized and four partial) were examined during hospitalization with recordings of seizures by trained personnel. Seizures were counted during two 24-hour periods: b...
journal_title:Pediatric neurology
pub_type: 临床试验,杂志文章
doi:10.1016/s0887-8994(02)00468-x
更新日期:2003-01-01 00:00:00
abstract::Forty patients with Sturge-Weber syndrome were studied over a 26-year period. The nevus flammeus was unilateral in 27 patients (twice as often on left side) and bilateral in 13 patients. Only 3 of these 13 patients had bilateral cerebral lesions. Seizures, most of which were focal, were present in 32 patients (80%). T...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/0887-8994(93)90064-j
更新日期:1993-07-01 00:00:00
abstract::We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(02)00456-3
更新日期:2002-11-01 00:00:00
abstract::We report a 13-year-old female who experienced symptoms and signs of Rasmussen encephalitis for the first time at the age of 5 years. Various therapeutic procedures, including conventional and new antiepileptic drugs, steroids, immunoglobulin, plasma exchanges, and partial hemispherectomy, were applied, but their resu...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/s0887-8994(03)00216-9
更新日期:2003-08-01 00:00:00
abstract:BACKGROUND:Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, ...
journal_title:Pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.pediatrneurol.2014.05.016
更新日期:2014-09-01 00:00:00