Neonatal perifascicular myopathy.

abstract：BACKGROUND:Patients in China with juvenile-onset myasthenia gravis present early, with a high prevalence of purely ocular symptoms, spontaneous remission rates, and low antibody seropositivity. Antibody detection using a cell-based assay has been reported to increase the diagnostic sensitivity in adult-onset myasthenia...

journal_title：Pediatric neurology

authors： Yan C,Li W,Song J,Feng X,Xi J,Lu J,Zhou S,Zhao C

更新日期：2019-09-01 00:00:00

abstract：:Chronic oral VP-16 (etoposide) is a chemotherapy regimen with a wide application in oncology and documented efficacy against germ cell tumors, lymphomas, Kaposi's sarcoma, and primary brain tumors. This study was performed to assess the toxicity and activity of chronic oral etoposide in the management of children with...

journal_title：Pediatric neurology

authors： Chamberlain MC

更新日期：2001-02-01 00:00:00

abstract：:Tourette syndrome is a neurologic disorder characterized by both motor and vocal tics. Recently, two variants, including a single-base deletion resulting in a truncated protein and a 3'-untranslated-region variant altering a binding site for micro-RNA in the Slit and Trk-like 1 gene, were found to be a genetic cause o...

journal_title：Pediatric neurology

authors： Chou IC,Wan L,Liu SC,Tsai CH,Tsai FJ

更新日期：2007-12-01 00:00:00

abstract：:Niemann-Pick type C disease is an autosomal-recessive, inherited neurovisceral lipid storage disorder. This disease results from either protein NPC1 or HE1 deficiency, which leads to cholesterol metabolism disturbance and is characterized by early hepatosplenomegaly and progressive ataxia, dystonia, cataplexy, dysarth...

journal_title：Pediatric neurology

authors： Zafeiriou DI,Triantafyllou P,Gombakis NP,Vargiami E,Tsantali C,Michelakaki E

更新日期：2003-09-01 00:00:00

abstract：:Möbius syndrome is a rare congenital disease characterized by the paralysis of the facial nerve, accompanied by impaired ocular abduction. We have performed an extensive mutation analysis on a recently identified positional candidate gene, PLEXIN-D1, for Möbius syndrome 2 mapping to chromosome 3q21-q22. Southern analy...

journal_title：Pediatric neurology

authors： van der Zwaag B,Verzijl HT,Wichers KH,Beltran-Valero de Bernabe D,Brunner HG,van Bokhoven H,Padberg GW

更新日期：2004-08-01 00:00:00

abstract：:Miller-Dieker syndrome (MDS) is a prototype of brain malformations characterized by abnormal neuronal migration. To clarify the pathomechanisms underlying these anomalies, we performed immunohistochemical studies using specific antibodies against the protein product of LIS-1, the candidate gene responsible for the MDS...

journal_title：Pediatric neurology

authors： Isumi H,Takashima S,Kakita A,Yamada M,Ikeda K,Mizuguchi M

更新日期：1997-01-01 00:00:00

abstract：:Cerebral perfusion pressure (CPP), believed to be a major determinant of neurologic outcome, was monitored at the bedside of high-risk premature newborns during the first few days of life. Intraventricular hemorrhage was presumed to have occurred in only one of the seven infants and was associated with ventriculomegal...

journal_title：Pediatric neurology

authors： Braun MA,Rosman NP,Gould JB

更新日期：1986-07-01 00:00:00

abstract：:Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range of clinical manifestations. Although there is currently no effective treatment of ADSL deficiency, recognition of the condit...

journal_title：Pediatric neurology

authors： Lundy CT,Jungbluth H,Pohl KR,Siddiqui A,Marinaki AM,Mundy H,Champion MP

更新日期：2010-11-01 00:00:00

abstract：:In areas without expanded newborn screening, instead of presenting neonatally, patients with arginase deficiency typically present with spastic paraplegia in early childhood. Diagnosis of this rare neurometabolic disease poses the first challenge because it is often misdiagnosed as cerebral palsy during initial stages...

journal_title：Pediatric neurology

authors： Tsang JP,Poon WL,Luk HM,Fung CW,Ching CK,Mak CM,Lam CW,Siu TS,Tam S,Wong VC

更新日期：2012-10-01 00:00:00

abstract：:A 2-year-old boy with acute optic neuritis, confirmed by gadolinium-DTPA enhancement of the optic nerve using frequency-selective fat-saturation pulse magnetic resonance imaging (Fat-Sat MRI), is reported. Because it is difficult in very young children to sufficiently evaluate visual acuity, visual field, and retroocu...

journal_title：Pediatric neurology

authors： Takanashi J,Sugita K,Matsubayashi J,Sato K,Niimi H

更新日期：1996-01-01 00:00:00

abstract：:A boy diagnosed as having glycogenosis type II at three years of age, underwent a sural nerve biopsy at the age of seven years. The distribution of the diameters of myelinated nerve fibers did not clearly demonstrate a bimodal pattern. However, larger fibers of 8 microns or more in diameter were more abundant. This fi...

journal_title：Pediatric neurology

authors： Origuchi Y,Itai Y,Matsumoto S,Matsuishi T

更新日期：1986-11-01 00:00:00

abstract：:Two siblings presented with identical features of progressive peripheral paralysis of the lower motor neuron type, pyramidal signs, cranial nerve palsy which included external ocular palsy and deafness, and internal ocular palsy; both died before 1 year of age. Pathologic examination of the central nervous system in b...

journal_title：Pediatric neurology

authors： Hamano K,Tsukamoto H,Yazawa T,Yoshimura M,Takita H

更新日期：1994-06-01 00:00:00

abstract：:Postictal psychosis is a state of psychosis following repeated or prolonged complex partial seizures with or without secondary generalization and is well described in adult epilepsy literature. It is sparsely reported in the pediatric literature. This report describes a 12-year-old male presenting with status epilepti...

journal_title：Pediatric neurology

authors： Joshi CN,Booth FA,Sigurdson ES,Bolton JM,Shah NS

更新日期：2006-05-01 00:00:00

abstract：:Chromosome X-to-autosome translocations [t(X;A)] are rare rearrangements with an estimated occurrence of 1 to 3 per 10,000 live births. Occurrences of Xq duplications have been observed in male and female subjects in whom the X chromosome segment escapes inactivation and results in functional disomy. We report a case ...

journal_title：Pediatric neurology

authors： Jezela-Stanek A,Ciara E,Juszczak M,Pelc M,Materna-Kiryluk A,Krajewska-Walasek M

更新日期：2011-03-01 00:00:00

abstract：:The pathophysiologic mechanism for stereotypic, bilateral repetitive movements involving the arms and hands (complex motor stereotypies) is unknown. This study used volumetric magnetic resonance imaging to compare cerebral lobes and caudate nucleus in six males with complex stereotypies and average intelligence to age...

journal_title：Pediatric neurology

authors： Kates WR,Lanham DC,Singer HS

更新日期：2005-02-01 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

authors： Higuchi Y,Hongou M,Ozawa K,Kokawa H,Masaki M

更新日期：2005-05-01 00:00:00

abstract：:We present a 2-year-old patient who showed progressive widespread white-matter abnormalities on magnetic resonance imaging 1 month after viral encephalitis, despite her good clinical recovery. These lesions on magnetic resonance imaging had not responded to therapies commonly used to treat secondary immune-mediated de...

journal_title：Pediatric neurology

authors： Awaya T,Kato T,Shibata M,Yamanaka Y,Nakahata T

更新日期：2008-03-01 00:00:00

abstract：:We report a female who was diagnosed with Wegener's granulomatosis at 4 years of age with life-threatening intracranial bleeding. The patient's serum was positive for c-antineutrophilic cytoplasmic antibodies, and histologic analysis of the lung biopsy revealed evidence of granulomatous vasculitis. Initial treatment w...

journal_title：Pediatric neurology

authors： Haas JP,Metzler M,Ruder H,Waldherr R,Böswald M,Rupprecht T

更新日期：2002-07-01 00:00:00

abstract：:The details of 328 patients with bacterial meningitis, admitted from 1984 through 1993, were obtained from 46 departments of pediatrics of large hospitals through questionnaires. The incidence rate per 100,000 child-years was 2.32, being higher in children aged 0-4 years (rate, 7.22) than 5-15 years (rate, 0.49). The ...

journal_title：Pediatric neurology

authors： Ishikawa T,Asano Y,Morishima T,Nagashima M,Sobue G,Watanabe K,Yamaguchi H

更新日期：1996-04-01 00:00:00

abstract：BACKGROUND:Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT:A 4-month-old boy was referred for poor feeding, emesis, failu...

journal_title：Pediatric neurology

authors： Horst DM,Ruess L,Rusin JA,Bartholomew DW

更新日期：2014-11-01 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

authors： Sugita K,Takanashi J,Ishii M,Niimi H

更新日期：1992-07-01 00:00:00

abstract：:Eye movements were assessed in 22 patients with varying degrees of hypoxanthine-guanine phosphoribosyltransferase deficiency. Ocular motility was clinically normal in seven patients with moderate enzyme deficiency but grossly abnormal in 15 patients with severe enzyme deficiency. In patients with severe deficiency, fi...

journal_title：Pediatric neurology

authors： Jinnah HA,Lewis RF,Visser JE,Eddey GE,Barabas G,Harris JC

更新日期：2001-03-01 00:00:00

abstract：BACKGROUND:It is well known that febrile seizures are commonly occur in children with exanthem subitum. In this study, we compared the clinical features and backgrounds of patients with complex febrile seizures with and without primary human herpesvirus 6B infection. METHODS:Sixty-two patients were enrolled after expe...

journal_title：Pediatric neurology

authors： Miyake M,Kawamura Y,Hattori F,Miura H,Ishihara N,Yoshikawa T

更新日期：2020-08-01 00:00:00

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 oc...

journal_title：Pediatric neurology

authors： Tibbles JA,Camfield PR,Cron CC,Farrell K

更新日期：1986-01-01 00:00:00

abstract：:Relapsing neuromyelitis optica is rare in children. The identification of a highly specific serum autoantibody marker (neuromyelitis optica-immunoglobulin G) differentiates neuromyelitis optica from other demyelinating disorders, particularly in clinically challenging cases. We present a child with multiple episodes o...

journal_title：Pediatric neurology

authors： Loma IP,Asato MR,Filipink RA,Alper G

更新日期：2008-09-01 00:00:00

abstract：OBJECTIVE:We evaluated the frequency of six commonly reported adult migraine premonitory symptoms in children and adolescents with episodic and chronic migraine and elicited psychological or behavioral comorbidities that may be associated with these symptoms. BACKGROUND:Premonitory symptoms are commonly reported in th...

journal_title：Pediatric neurology

authors： Jacobs H,Pakalnis A

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:Newborns with congenital heart disease have associated brain damage that affects short-and long-term neurodevelopment. Several neuronal biomarkers exist that could predict brain damage. We investigated the pattern of neuron-specific enolase (NSE) and s100B levels after cardiopulmonary bypass surgery in neona...

journal_title：Pediatric neurology

authors： Trakas E,Domnina Y,Panigrahy A,Baust T,Callahan PM,Morell VO,Munoz R,Bell MJ,Sanchez-de-Toledo J

更新日期：2017-07-01 00:00:00

abstract：:Type I spinal muscular atrophy (SMA) is a rapidly progressive, degenerative neuromuscular disease of infancy. In severe SMA, weakness, hypotonia, and bulbar involvement lead to progressive respiratory insufficiency and swallowing dysfunction, which are frequently complicated by aspirations. There are few studies repor...

journal_title：Pediatric neurology

authors： Birnkrant DJ,Pope JF,Martin JE,Repucci AH,Eiben RM

更新日期：1998-05-01 00:00:00

abstract：BACKGROUND:Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth. Recently, mutations in the...

journal_title：Pediatric neurology

authors： Pavlović M,Neubauer D,Al Tawari A,Heberle LC

更新日期：2014-10-01 00:00:00

abstract：:The outcomes of 60 children unconscious for 90 days or longer following acquired brain injury are reported. Eight children who died had remained in persistent vegetative states. As expected, most neurologic improvement occurred within the first year after injury, although some delayed improvements were observed. Outco...

journal_title：Pediatric neurology

authors： Kriel RL,Krach LE,Jones-Saete C

更新日期：1993-09-01 00:00:00