Dandy-Walker cyst associated with occipital meningocele.

abstract：:Hypomelanosis of Ito has been associated with precocious puberty in two cases. This study reports a third case involving a female with hypomelanosis of Ito including severe mental retardation and seizure disorder with autonomic symptoms (gastroesophageal reflux and asthma). At age 5 she developed vaginal discharge, th...

journal_title：Pediatric neurology

authors： Rutland BM,Edgar MA,Horenstein MG

更新日期：2006-01-01 00:00:00

abstract：BACKGROUND:Congenital insensitivity to pain with anhidrosis is an extremely rare hereditary disorder linked to variants in NTRK1. Our goal was to characterize the clinical features and the genetic basis of the disorder in Chinese patients. METHODS:Patients were enrolled via social networking. Clinical features were in...

journal_title：Pediatric neurology

authors： Wang QL,Guo S,Duan G,Ying Y,Huang P,Liu JY,Zhang X

更新日期：2016-08-01 00:00:00

abstract：:The progression and characteristics of magnetic resonance imaging (MRI) and computed tomographic (CT) findings in 3 patients with infantile Krabbe disease (i.e., globoid cell leukodystrophy or galactocerebroside beta-galactosidase deficiency) are reported. We obtained initial CT and MRI studies when patients demonstra...

journal_title：Pediatric neurology

authors： Sasaki M,Sakuragawa N,Takashima S,Hanaoka S,Arima M

更新日期：1991-07-01 00:00:00

abstract：:Stimulant therapy is usually contraindicated in patients with movement disorders such as tics or chorea. A young boy is reported who had benign hereditary chorea and attention deficit disorder, whose chorea, handwriting, and independent ambulation paradoxically improved with methylphenidate treatment. ...

journal_title：Pediatric neurology

authors： Friederich RL

更新日期：1996-05-01 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：: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

authors： Goh S

更新日期：2007-11-01 00:00:00

abstract：:Polyneuritis cranialis is a rare disorder of multiple cranial nerve palsies without spinal cord involvement. The case reported is of a 10-year-old boy with multiple palsies involving cranial nerves III, IV, V, VI, VII, IX, X, XI, and XII cranial nerves, unilaterally or bilaterally. After initial, unsuccessful treatmen...

journal_title：Pediatric neurology

authors： Pavone P,Incorpora G,Romantshika O,Ruggieri M

更新日期：2007-09-01 00:00:00

abstract：:Variant forms of the Guillain-Barré syndrome are characterized by their localized or regional involvement of the peripheral and autonomic nerves. As there is no single clinical or serologic marker for Guillain-Barré syndrome, diagnosis of this condition is based upon consistent clinical, laboratory, and neurophysiolog...

journal_title：Pediatric neurology

authors： Mogale KD,Antony JH,Ryan MM

更新日期：2005-10-01 00:00:00

abstract：BACKGROUND:Ketamine has recently emerged as a promising therapeutic alternative for abortive migraine therapy, likely secondary to N-methyl-d-aspartate antagonism. Most reports examine adults and the intravenous route. Fewer utilize intranasal administration or pediatric populations. Given the limited evidence for intr...

journal_title：Pediatric neurology

authors： Turner AL,Shandley S,Miller E,Perry MS,Ryals B

更新日期：2020-03-01 00:00:00

abstract：INTRODUCTION:Glucose transporter type 1 deficiency syndrome is a metabolic encephalopathy that results from impaired glucose transport into the brain as the result of a mutation of the SLC2A1 gene. It has been recognized recently that these patients can present with a much broader clinical spectrum than previously thou...

journal_title：Pediatric neurology

authors： Ohshiro-Sasaki A,Shimbo H,Takano K,Wada T,Osaka H

更新日期：2014-01-01 00:00:00

abstract：:Central nervous system manifestations are a common extrapulmonary complication of Mycoplasma pneumoniae infection, of which encephalitis is a well-recognized abnormality in children. In this report the first description of M. pneumoniae infection simultaneously complicated by meningoencephalitis and hemophagocytosis i...

journal_title：Pediatric neurology

authors： Bruch LA,Jefferson RJ,Pike MG,Gould SJ,Squier W

更新日期：2001-07-01 00:00:00

abstract：:Epidural hematoma due to birth trauma is unusual. The presentation is similar to subdural hematoma in the newborn, but the results of subdural puncture may be normal. The CT scan is diagnostic and early surgical evacuation may be lifesaving. ...

journal_title：Pediatric neurology

authors： Gama CH,Fenichel GM

更新日期：1985-01-01 00:00:00

abstract：:The aim of this study was to determine the incidence and describe the factors influencing ictal cardiac arrhythmias in children with epilepsy. A 2-year review within a pediatric epilepsy monitoring unit revealed 2066 electrographically confirmed seizures in 139 patients. Demographic, seizure, and cardiac variables wer...

journal_title：Pediatric neurology

authors： Standridge SM,Holland KD,Horn PS

更新日期：2010-03-01 00:00:00

abstract：BACKGROUND:Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS:We performed diagnostic ...

journal_title：Pediatric neurology

authors： Rossi M,El-Khechen D,Black MH,Farwell Hagman KD,Tang S,Powis Z

更新日期：2017-05-01 00:00:00

abstract：:Patients with autosomal dominant Segawa disease (dopa-responsive dystonia) demonstrate excellent, sustained response to low-dose levodopa. In contrast, the development of levodopa limiting treatment dyskinesias is thought to support the diagnosis of other early-onset dystonia/parkinsonism syndromes. We describe an aty...

journal_title：Pediatric neurology

authors： López-Laso E,Beyer K,Opladen T,Artuch R,Saunders-Pullman R

更新日期：2012-06-01 00:00:00

abstract：BACKGROUND:To determine the cost and efficacy of admitting patients for intravenous dihydroergotamine treatment and to identify factors associated with a higher likelihood of response to treatment. METHODS:We performed a retrospective review of all pediatric hospitalizations from 2001 to 2010 for intravenous dihydroer...

journal_title：Pediatric neurology

authors： Nelson GR,Bale JF,Kerr LM

更新日期：2017-01-01 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

authors： Bugnitz CJ,Cripe LH,Lo WD,Flanigan KM

更新日期：2016-10-01 00:00:00

abstract：:Moyamoya disease is an uncommon chronic cerebrovasculopathy, characterized by progressive stenosis of the terminal portion of the internal carotid artery and its main branches, in association with the development of compensatory collateral vessels at the base of the brain. The etiology is unknown, and was originally c...

journal_title：Pediatric neurology

authors： Currie S,Raghavan A,Batty R,Connolly DJ,Griffiths PD

更新日期：2011-06-01 00:00:00

abstract：:We report on a previously healthy 11-year-old boy with unilateral periorbital mild headache and facial nerve palsy, followed during the next 5 months by recurrent unilateral headaches and subsequent extrinsic paresis of the third cranial nerve and paresis of the sixth cranial nerve, each of which improved with steroid...

journal_title：Pediatric neurology

authors： Cerisola A,González G,Scavone C

更新日期：2011-01-01 00:00:00

abstract：:We report a patient with BH(4)-sensitive phenylketonuria. In neonatal screening, phenylalanine levels above 10 mg/dl were detected. In the tetrahydrobiopterin- (BH(4)) loading test, phenylalanine concentrations in serum fell significantly. Dihydropteridine reductase activity in blood, pterines, and neurotransmitters i...

journal_title：Pediatric neurology

authors： Lücke T,Illsinger S,Aulehla-Scholz C,Sander J,Das AM

更新日期：2003-03-01 00:00:00

abstract：:A debilitating, regularly recurring, biphasic disorder is described in 6 severely multidisabled children. It was characterized by several days of lethargy, withdrawal, loss of abilities, irritability, and hypersomnolence followed or preceded by a high-energy state for several days during which the children slept very ...

journal_title：Pediatric neurology

authors： Jan JE,Abroms IF,Freeman RD,Brown GM,Espezel H,Connolly MB

更新日期：1994-02-01 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：: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

authors： Marjanovic BD,Stojanov LM,Zdravkovic DS,Kravljanac RM,Djordjevic MS

更新日期：2003-08-01 00:00:00

abstract：:A 6-year-old girl (Patient 1) and a 5-year-old boy (Patient 2) with acute disseminated encephalomyelitis after Japanese B encephalitis vaccination are reported. Drowsiness, paresthesias, and gait disturbance were observed at 14 days (Patient 1) and 17 days (Patient 2) after the vaccination; however, transient impairme...

journal_title：Pediatric neurology

authors： Ohtaki E,Murakami Y,Komori H,Yamashita Y,Matsuishi T

更新日期：1992-03-01 00:00:00

abstract：BACKGROUND:Seizures may cause added harm in neonates with hypoxic-ischemic encephalopathy (HIE). Specific recommendations about seizure treatment in this context are lacking. We sought to determine the scope of practice regarding management of non-status epilepticus electrographic-only seizures in this setting. METHOD...

journal_title：Pediatric neurology

authors： McNally MA,Hartman AL

更新日期：2017-12-01 00:00:00

abstract：:To evaluate the efficacy of piracetam therapy, 76 children with breath-holding spells admitted to the Outpatient Clinic of Dicle University Medical Faculty Paediatrics Department and Bakirköy State Hospital, Paediatrics Department between 1988 and 1990 and 1991 and 1996, respectively, were included in this placebo-con...

journal_title：Pediatric neurology

authors： Donma MM

更新日期：1998-01-01 00:00:00

abstract：:The effects of vagal nerve stimulation on sleep-related breathing have not been well-described in children. Vagal nerve stimulation was reported to cause decreases in airflow during sleep, although most studies reported this condition to be clinically insignificant. We present a retrospective case series of nine child...

journal_title：Pediatric neurology

authors： Hsieh T,Chen M,McAfee A,Kifle Y

更新日期：2008-02-01 00:00:00

abstract：:Hemiconvulsion-hemiplegia-epilepsy syndrome involves sudden and prolonged unilateral seizures, followed by transient or permanent hemiplegia and epilepsy during infancy or early childhood. Some patients with familial hemiplegic migraine and demonstrating the S218L mutation in CACNA1A experience severe attacks with uni...

journal_title：Pediatric neurology

authors： Yamazaki S,Ikeno K,Abe T,Tohyama J,Adachi Y

更新日期：2011-09-01 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