Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms.

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

authors： Wessel HB,Barmada MA,Hashida Y

更新日期：1987-03-01 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

authors： Pavlakis SG,Frank Y,Kalina P,Chandra M,Lu D

更新日期：1997-02-01 00:00:00

abstract：:A 13-year-old girl who had Duane retraction syndrome associated with Chiari I malformation is reported. Neuro-ophthalmologic examination revealed severe limitation of abduction of the left eye, as well as narrowing of the palpebral fissure and retraction of the globe on adduction. Electro-oculography of the affected e...

journal_title：Pediatric neurology

authors： Yamanouchi H,Iwasaki Y,Sugai K,Mukuno K

更新日期：1993-07-01 00:00:00

abstract：:Ischemic and hemorrhagic stroke can occur in the setting of pediatric trauma, particularly those with head or neck injuries. The risk of stroke appears highest within the first two weeks after trauma. Stroke diagnosis may be challenging due to lack of awareness or concurrent injuries limiting detailed neurological ass...

journal_title：Pediatric neurology

authors： Galardi MM,Strahle JM,Skidmore A,Kansagra AP,Guilliams KP

更新日期：2020-07-01 00:00:00

abstract：:We describe Adie's pupil and radiologic changes related to Parry-Romberg syndrome in a child who presented with facial hemiatrophy with no neurologic deficit. We suggest that cerebral lesions in Parry-Romberg syndrome without neurologic symptoms must be carefully investigated. ...

journal_title：Pediatric neurology

authors： Aynaci FM,Sen Y,Erdöl H,Ahmetoğlu A,Elmas R

更新日期：2001-11-01 00:00:00

abstract：BACKGROUND:The mechanistic target of rapamycin inhibitors everolimus and sirolimus have activity against multiple manifestations of tuberous sclerosis complex and are approved to treat astrocytomas, angiomyolipomas, lymphangioleiomyomatosis, and epilepsy. Cannabidiol is a novel antiepileptic medication. There is lack o...

journal_title：Pediatric neurology

authors： Ebrahimi-Fakhari D,Agricola KD,Tudor C,Krueger D,Franz DN

更新日期：2020-04-01 00:00:00

abstract：:Four children with self-inflicted strangulation injuries had cerebral blood flow determined by stable xenon computed tomography (XeCTCBF) within 24 hours of admission. All had suffered a severe hypoxic-ischemic cerebral injury; 3 initially had fixed pupils, all were apneic with varying bradyarrhythmias, and the initia...

journal_title：Pediatric neurology

authors： Ashwal S,Perkin RM,Thompson JR,Tomasi LG,van Stralen D,Schneider S

更新日期：1991-09-01 00:00:00

abstract：BACKGROUND:Insomnia and low iron stores are common in children with autism spectrum disorders, and low iron stores have been associated with sleep disturbance. METHODS:We performed a randomized placebo-controlled trial of oral ferrous sulfate to treat insomnia in children with autism spectrum disorders and low normal ...

journal_title：Pediatric neurology

authors： Reynolds AM,Connolly HV,Katz T,Goldman SE,Weiss SK,Halbower AC,Shui AM,Macklin EA,Hyman SL,Malow BA

更新日期：2020-03-01 00:00:00

abstract：BACKGROUND:Outcome in severe acute necrotizing encephalopathy of childhood is poor, with high mortality (30%) and moderate to severe disability in survivors despite the use of intravenous corticosteroids or immunoglobulins. Increased blood interleukin 6 level correlates with poor outcome. METHODS:We report the early u...

journal_title：Pediatric neurology

authors： Koh JC,Murugasu A,Krishnappa J,Thomas T

更新日期：2019-09-01 00:00:00

abstract：:To explore the mechanisms of central nervous system involvement in children with Henoch-Schönlein purpura, levels of lupus anticoagulant, anticardiolipin antibodies, and anti-β2 glycoprotein I antibodies in serum and cerebrospinal fluid were determined in 46 cases of Henoch-Schönlein purpura with central nervous syste...

journal_title：Pediatric neurology

authors： Liu A,Zhang H

更新日期：2012-09-01 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：: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：:A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 y...

journal_title：Pediatric neurology

authors： Zupanc ML,Chun RW,Gilbert-Barness EF

更新日期：1990-09-01 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

abstract：:We describe a case of female Becker muscular dystrophy with 45,X/46,X,r(X), carrying an out-of-frame deletion in a nonhot-spot region of the DMD gene. Multiplex polymerase chain reaction did not detect the deletion, because the deleted exons 31-42 comprise a nonhot-spot region, and the product for exon 43 was detected...

journal_title：Pediatric neurology

authors： Lee KA,Han SH,Choi JR,Chung JS,Choi YC

更新日期：2008-08-01 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：:Auditory event-related potentials (P300 latency; odd-ball paradigm) were examined in 129 patients with childhood epilepsies and 53 controls. The P300 latency in the patients with epilepsies (373 +/- 39.4 ms) was significantly longer than in controls (356 +/- 38.4), and the prolongation was greatest in the patients wit...

journal_title：Pediatric neurology

authors： Konishi T,Naganuma Y,Hongou K,Murakami M,Yamatani M,Yagi S

更新日期：1995-02-01 00:00:00

abstract：:Nerve growth factor (NGF) in cerebrospinal fluid was measured by ELISA in ten children with postinfectious diseases and in five children with diseases suggested to be of autoimmune etiology. Three groups of patients were studied: (1) those with moderately elevated concentrations (50.67 +/- 17.02 pg/mL, mean and SEM), ...

journal_title：Pediatric neurology

authors： Riikonen RS,Söderström S,Korhonen LT,Lindholm DB

更新日期：1998-03-01 00:00:00

abstract：:We present a 5-year survival profile of 42 children and adolescents between 1 to 21 years of age in an immobile minimally conscious state, chronically dependent on supportive ventilation. Data were collected from a 22-bed pediatric unit dedicated to this unique population, within a 350-bed geriatric hospital, between ...

journal_title：Pediatric neurology

authors： Gale R,Namestnic J

更新日期：2013-04-01 00:00:00

abstract：:Parry-Romberg is a rare syndrome of unknown origin, characterized by hemiatrophy of the face including subcutaneous tissue, skeletal muscle, and bones, along with various ocular and central nervous system abnormalities. Some investigators consider that injury to the sympathetic fibers of the trigeminal nerve is a caus...

journal_title：Pediatric neurology

authors： Menascu S,Padeh S,Hoffman C,Ben-Zeev B

更新日期：2009-04-01 00:00:00

abstract：:A male with developmental dysphasia is documented with fine motor dysfunction whose improvement in expressive language was associated with increased cerebellar perfusion, as detected by serial N-isopropyl-p-[iodine-123] iodoamphetamine single photon emission computed tomography (SPECT). His expressive language has bee...

journal_title：Pediatric neurology

authors： Oki J,Takahashi S,Miyamoto A,Tachibana Y

更新日期：1999-10-01 00:00:00

abstract：:Gangliogliomas are rare neurogliogenic tumors of the central nervous system. Primary involvement of the brainstem is characterized by variable presentations and a long clinical course before diagnosis. Identification of this group of tumors is essential because clinical improvement and prolonged survival have been doc...

journal_title：Pediatric neurology

authors： Martin LD,Kaplan AM,Hernried LS,Fisher BJ

更新日期：1986-05-01 00:00:00

abstract：:The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.1016/j.pediatrneurol.2014.07.002. The duplicate article has therefore been removed. The full Elsevier Policy on Article Removal can be found at http://www.elsevier.com/locate/withdra...

journal_title：Pediatric neurology

authors： Disabella MT

更新日期：2014-08-07 00:00:00

abstract：:Insufficient nutrition is known to lead to disturbances in postnatal myelin formation. This study aims to demonstrate that early myelination is altered in human twin pregnancies. Five brains of twins with a symmetric blood supply and three brains of twins with chronic fetal-fetal transfusion syndrome (one hypervolemic...

journal_title：Pediatric neurology

authors： Ulfig N,Nickel J,Saretzki U

更新日期：1998-10-01 00:00:00

abstract：:A 16-month-old girl with a history of Prader-Willi syndrome and progressive macrocephaly manifested large, bilateral, subdural hemorrhages of differing ages on magnetic resonance imaging. Subsequent evaluation revealed a deficiency of von Willebrand factor, but after repeated evaluations, no conclusive evidence of non...

journal_title：Pediatric neurology

authors： Carr RB,Khanna PC,Saneto RP

更新日期：2012-07-01 00:00:00

abstract：:A group of children and adolescents with infantile nephropathic cystinosis underwent cognitive testing and were examined for cortical atrophy using magnetic resonance imaging or computed tomography. Ten of 11 patients demonstrated cortical atrophy. A consistent pattern of lower cognitive performance was found in patie...

journal_title：Pediatric neurology

authors： Nichols SL,Press GA,Schneider JA,Trauner DA

更新日期：1990-11-01 00:00:00

abstract：:Mutations in the alpha-subunit of the first neuronal sodium channel gene SCN1A have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus. To find phenotype/genotype correlations, we reviewed all published c...

journal_title：Pediatric neurology

authors： Ceulemans BP,Claes LR,Lagae LG

更新日期：2004-04-01 00:00:00

abstract：:Idiopathic soft palate paralysis is an isolated clinical entity of unknown cause. Typical clinical features are sudden onset, rhinolalia, and nasal escape of fluids from the ipsilateral nostril. The disorder affects mainly male children at the ages of 2 to 3 years and resolves spontaneously. This report presents a 5-y...

journal_title：Pediatric neurology

authors： Alp H,Tan H,Altunkaynak S,Orbak Z

更新日期：2005-08-01 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：:Intrauterine cocaine exposure has been associated with multiple transient and permanent neurologic sequelae. Although dystonic reactions have been reported in cocaine users, infantile dystonia following intrauterine exposure has not. We describe 4 infants testing positive for cocaine metabolite at birth with subsequen...

journal_title：Pediatric neurology

authors： Beltran RS,Coker SB

更新日期：1995-05-01 00:00:00