Optic nerve tumor in tuberous sclerosis complex is not responsive to sirolimus.

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：:Early-onset ataxia with oculomotor apraxia and hypoalbuminemia is an autosomal recessive cerebellar ataxia characterized by oculomotor apraxia, peripheral neuropathy, and hypoalbuminemia. Mutations in aprataxin gene located at chromosome 9q13 have been identified recently in Japanese and European patients. This study ...

journal_title：Pediatric neurology

authors： Ito A,Yamagata T,Mori M,Momoi MY

更新日期：2005-07-01 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：:The contribution of intrapartum hypoxia-ischemia to neonatal encephalopathy in the larger preterm infant remains poorly defined. Such infants could become potential candidates for neuroprotective strategies. The objective of this study was to determine in preterm infants of gestation 31 to 36 weeks, with severe fetal ...

journal_title：Pediatric neurology

authors： Salhab WA,Perlman JM

更新日期：2005-01-01 00:00:00

abstract：PURPOSE:We evaluated the clinical, electrophysiological, imaging, and ultrastructural features of neuronal ceroid lipofuscinoses and its subtypes. METHODS:The clinical, electrophysiological, imaging, histopathological, and ultrastructural features of 68 (age at onset: 4.3 ± 5.4 years) neuronal ceroid lipofuscinoses an...

journal_title：Pediatric neurology

authors： Jadav RH,Sinha S,Yasha TC,Aravinda H,Gayathri N,Rao S,Bindu PS,Satishchandra P

更新日期：2014-01-01 00:00:00

abstract：:In clinical practice, an association is commonly suggested between nocturnal epileptiform activity and language disorders in children. However, this association has not been studied systematically. This study explored the correlation between daily and nocturnal epileptiform discharges ratio, frequency of nocturnal epi...

journal_title：Pediatric neurology

authors： Overvliet GM,Besseling RM,Vles JS,Hofman PA,van Hall MH,Backes WH,Aldenkamp AP

更新日期：2011-05-01 00:00:00

abstract：:Methotrexate causes several biochemical changes that impact the nervous system. The neurotoxicity usually affects the cerebral white matter, causing a leukoencephalopathy that can be chronic and progressive with cognitive decline. A 15-year-old male developed olfactory seizures and behavioral abnormalities (hypersexua...

journal_title：Pediatric neurology

authors： Antunes NL,Souweidane MM,Lis E,Rosenblum MK,Steinherz PG

更新日期：2002-04-01 00:00:00

abstract：:Central neurogenic hyperventilation refers to progressive tachypnea leading to hypocarbia and respiratory alkalosis caused by cortical disorders, initially reported in comatose patients with mainly pontine infarction. Central neurogenic hyperventilation in conscious patients is even rarer, numbering around 30 reported...

journal_title：Pediatric neurology

authors： Shahar E,Postovsky S,Bennett O

更新日期：2004-04-01 00:00:00

abstract：:The purpose of this study was to describe the spectrum of possible abnormal neurologic outcomes in term infants with intrapartum asphyxia and to identify those clinical factors associated with the later occurrence of cerebral palsy. All children with term intrapartum asphyxia encountered in a single pediatric neurolog...

journal_title：Pediatric neurology

authors： Al-Macki N,Miller SP,Hall N,Shevell M

更新日期：2009-12-01 00:00:00

abstract：BACKGROUND:Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS:Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness fr...

journal_title：Pediatric neurology

authors： Rocha J,Taipa R,Melo Pires M,Oliveira J,Santos R,Santos M

更新日期：2014-08-01 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:Corpus callosum atrophy has been associated with cognitive and motor deficits in elderly people. However, the role of the corpus callosum in infant development is unclear. The aim of this study was to assess the impact of corpus callosum size on motor development in infants. METHODS:We investigated cerebral...

journal_title：Pediatric neurology

authors： Chang CL,Hung KL,Yang YC,Ho CS,Chiu NC

更新日期：2015-02-01 00:00:00

abstract：BACKGROUND:Proton magnetic resonance spectroscopy can be used to assess brain integrity and maturation with age. OBJECTIVE:To compare regional cerebral magnetic resonance spectroscopy metabolite ratios in extremely low birth weight and healthy term control infants measured at term-equivalent age and to evaluate associ...

journal_title：Pediatric neurology

authors： Bapat R,Narayana PA,Zhou Y,Parikh NA

更新日期：2014-07-01 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

authors： Zhao B,Wei Q,Wang Y,Chen Y,Shang H

更新日期：2014-09-01 00:00:00

abstract：:The expression of tumor necrosis factor alpha (TNF alpha) was examined in infants with leukomalacia by means of immunohistochemical methods with an antihuman TNF alpha monoclonal antibody. We studied 23 patients with neonatal leukomalacia, classified as having "focal," "widespread," or "diffuse" disease according to t...

journal_title：Pediatric neurology

authors： Deguchi K,Mizuguchi M,Takashima S

更新日期：1996-01-01 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

authors： Sakuta R,Honzawa S,Murakami N,Goto Y,Nagai T

更新日期：2002-11-01 00:00:00

abstract：:The relationship between the dose of ACTH and the initial effect was investigated in 41 children with infantile spasms. More than 0.015 mg (0.6 IU)/kg/day of ACTH was needed for a good initial response of seizures and electroencephalographic abnormalities. The relationship between the dose of ACTH and long-term progno...

journal_title：Pediatric neurology

authors： Ito M,Okuno T,Fujii T,Mutoh K,Oguro K,Shiraishi H,Shirasaka Y,Mikawa H

更新日期：1990-07-01 00:00:00

abstract：:A 4-year-old female with choroid plexus carcinoma developed progressive disturbance of consciousness 2 years after postoperative treatment with radiotherapy, chemotherapy, and focal methotrexate injection into a residual tumor cyst. Magnetic resonance imaging revealed white matter lesions localized around the expandin...

journal_title：Pediatric neurology

authors： Yano T,Sawaishi Y,Hirayama A,Takaku I,Takada G

更新日期：2005-01-01 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：:An optimal botulinum toxin dose may be related to the volume of the targeted muscle. We investigated the suitability of using ultrasound and anthropometry to estimate gastrocnemius and soleus muscle volume. Gastrocnemius and soleus muscle thickness was measured in 11 cadaveric human legs, using ultrasound. Lower leg l...

journal_title：Pediatric neurology

authors： Bandholm T,Sonne-Holm S,Thomsen C,Bencke J,Pedersen SA,Jensen BR

更新日期：2007-10-01 00:00:00

abstract：:An atypical teratoid/rhabdoid tumor of the central nervous system is an aggressive infantile embryonal neoplasm, usually presenting as an infratentorial and intraparenchymatous lesion. We report on magnetic resonance imaging findings of a 22-month-old boy with a biopsy-proven primary rhabdoid tumor, presenting as a si...

journal_title：Pediatric neurology

authors： Bing F,Nugues F,Grand S,Bessou P,Salon C

更新日期：2009-12-01 00:00:00

abstract：:Acute transverse myelitis is a rare Borellia burgdorferi-related neurologic complication in childhood. We present a 12-year-old girl who was diagnosed with acute transverse myelitis associated with a borreliosis infection. We also review clinical features in all five cases of Borellia burgdorferi-related transverse my...

journal_title：Pediatric neurology

authors： Erol I,Kılıçarslan B,Saygi S,Demir S,Alehan F

更新日期：2013-04-01 00:00:00

abstract：:To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Austr...

journal_title：Pediatric neurology

authors： Rose LV,Rose NT,Elder JE,Thorburn DR,Boneh A

更新日期：2008-06-01 00:00:00

abstract：BACKGROUND:Neurogenic pulmonary edema may be a complication of multiple neurological processes. Although there is debate regarding the underlying pathophysiology, the recognition of neurogenic pulmonary edema is vitally important because of the high-potential for mortality and need for treatment of the underlying disor...

journal_title：Pediatric neurology

authors： Sweeney M,Rubin J,Hopkins SE

更新日期：2014-09-01 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：:We describe eight cases of pediatric patients whose neuroimages performed after seizures revealed abnormalities that were compatible with edema surrounding calcified lesions and which disappeared in subsequent examinations. ...

journal_title：Pediatric neurology

authors： Antoniuk SA,Bruck I,Dos Santos LH,Pintarelli VL,Navolar FB,Brackmann PC Jr,de Morais RL

更新日期：2001-10-01 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：:Neonatal group B streptococcus meningitis causes neurologic morbidity and mortality. Cerebrovascular involvement is a common, poorly studied, and potentially modifiable pathologic process. We hypothesized that imaging patterns of focal brain infarction are recognizable in neonatal group B streptococcal meningitis. A c...

journal_title：Pediatric neurology

authors： Hernández MI,Sandoval CC,Tapia JL,Mesa T,Escobar R,Huete I,Wei XC,Kirton A

更新日期：2011-04-01 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：: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