Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient.

abstract：:Our experience with two children with Joubert syndrome demonstrates how the diagnosis, if suspected by recognition of the behavioral phenotype, can rapidly be made by employing cranial sonography. This technique also may afford prenatal diagnosis of the syndrome in future siblings of confirmed cases. We have produced ...

journal_title：Journal of child neurology

authors： Edwards BO Jr,Fischer AQ,Flannery DB

更新日期：1988-10-01 00:00:00

abstract：:We describe a fatal case of mumps virus-associated acute encephalopathy. In terms of the clinical course and cytokine as well as chemokine profiles, the pathogenesis in our case was different from that of mumps meningoencephalitis but was similar to that of influenza virus-associated acute encephalopathy. ...

journal_title：Journal of child neurology

authors： Watanabe M,Suyama K,Hashimoto K,Sato M,Ohara S,Abe Y,Kawasaki Y,Yamaguchi S,Saijo M,Hosoya M

更新日期：2013-02-01 00:00:00

abstract：:Motor speed and accuracy are both affected in childhood dystonia. Thus, deriving a speed-accuracy function is an important metric for assessing motor impairments in dystonia. Previous work in dystonia studied the speed-accuracy trade-off during point-to-point tasks. To achieve a more relevant measurement of functional...

journal_title：Journal of child neurology

authors： Lunardini F,Bertucco M,Casellato C,Bhanpuri N,Pedrocchi A,Sanger TD

更新日期：2015-10-01 00:00:00

abstract：:Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye blinking or sniffin...

journal_title：Journal of child neurology

authors： Rizzo R,Cath D,Pavone P,Tijssen M,Robertson MM

更新日期：2015-08-01 00:00:00

abstract：:Metabolic disorders constitute an important cause of neurologic disease, including infantile epilepsy. The inability to characterize seizures and epilepsy syndromes precisely in infants impedes the recognition of features suggestive of specific underlying metabolic and neurodegenerative etiologies. Classification syst...

journal_title：Journal of child neurology

authors： Nordli DR Jr,De Vivo DC

更新日期：2002-12-01 00:00:00

abstract：:Fifty-three (5%) of 1064 consecutively imaged children showed an arterial vascular pattern on magnetic resonance images, accounting for 12% of all abnormal studies. Signal abnormalities on T2-weighted scans persisted years after the clinical stroke occurrence. Ipsilateral atrophy of the pons or midbrain was found in 2...

journal_title：Journal of child neurology

authors： Smith CD,Baumann RJ

更新日期：1991-07-01 00:00:00

abstract：:Patients with partial seizures aged 1 week to 19 years (n = 175) were included in several prospective vigabatrin studies at the hospital Saint Vincent de Paul. A decrease in seizure frequency of over 50% was achieved in 70% of patients, with 30% becoming seizure free, and only 6% experiencing an increase. Tuberous scl...

journal_title：Journal of child neurology

authors： Nabbout RC,Chiron C,Mumford J,Dumas C,Dulac O

更新日期：1997-04-01 00:00:00

abstract：:The voltage-sensitive calcium channel probe 125I-omega-GVIA conotoxin has been shown to be a developmental marker in whole brain preparations of Swiss Webster mice. The present study looks more carefully at regional dissections of the mouse brain (cerebrum, cerebellum, and brain stem) at postnatal day 8 and postnatal ...

journal_title：Journal of child neurology

authors： Litzinger MJ,Mouritsen CL,Grover BB,Esplin MS,Abbott JR

更新日期：1994-01-01 00:00:00

abstract：:Assessment of upper limb function, kinematic analysis, and dystonia in patients with spastic diplegia cerebral palsy and periventricular leukomalacia. Seven children with spastic diplegia cerebral palsy and 8 controls underwent upper limb kinematics. Movement duration, average and maximum linear velocity, index of cur...

journal_title：Journal of child neurology

authors： Pons R,Vanezis A,Skouteli H,Papavasiliou A,Tziomaki M,Syrengelas D,Darras N

更新日期：2017-10-01 00:00:00

abstract：:The authors conducted a systematic literature review of preventive pharmacological treatments for episodic childhood migraines searching several databases through May 20, 2012. Episodic migraine prevention was examined in 24 publications of randomized controlled trials that enrolled 1578 children in 16 nonrandomized s...

journal_title：Journal of child neurology

authors： Shamliyan TA,Kane RL,Ramakrishnan R,Taylor FR

更新日期：2013-10-01 00:00:00

abstract：:The objective of this article is to review primary and secondary causes of carnitine deficiency, emphasizing recent advances in our knowledge of fatty acid oxidation. It is now understood that the cellular metabolism of fatty acids requires the cytosolic carnitine cycle and the mitochondrial beta-oxidation cycle. Carn...

journal_title：Journal of child neurology

authors： Pons R,De Vivo DC

更新日期：1995-11-01 00:00:00

abstract：:We investigated familial and environmental risk factors in a cohort of South African children diagnosed with attention-deficit hyperactivity disorder (ADHD). A prospective, hospital-based case control study was conducted comprising 50 children diagnosed with ADHD and 50 matched non-ADHD controls. The adjusted effect o...

journal_title：Journal of child neurology

authors： van Dyk L,Springer P,Kidd M,Steyn N,Solomons R,van Toorn R

更新日期：2015-09-01 00:00:00

abstract：:Three normal children with headache occurring only with exertion were advised to try "head cooling" (eg, immersion of the head in cold water, cold water poured over the head, application of a cold, wet towel or ice pack) at the onset of headache. The patients were followed up quarterly as outpatients, and the effectiv...

journal_title：Journal of child neurology

authors： Singh RK,Martinez A,Baxter P

更新日期：2006-12-01 00:00:00

abstract：:Animal models have assisted in understanding the mechanisms of brain injury underlying cerebral palsy. Nevertheless, no such models replicate every aspect of the human disease. This review summarizes the classic and more recent studies of the neuropathology of human perinatal brain injury most commonly associated with...

journal_title：Journal of child neurology

authors： Folkerth RD

更新日期：2005-12-01 00:00:00

abstract：:Extensive optic nerve demyelinating lesions on magnetic resonance imaging (MRI) in adults could indicate a diagnosis other than multiple sclerosis with worse prognosis such as neuromyelitis optica. We report the frequency of longitudinally extensive lesions in children with first events of optic neuritis. Subjects had...

journal_title：Journal of child neurology

authors： Graves J,Kraus V,Soares BP,Hess CP,Waubant E

更新日期：2015-01-01 00:00:00

abstract：:Four unrelated infants with neonatal thrombocytopenia associated with congenital blindness and porencephaly have been seen over an 18-year period. The association of congenital blindness with neonatal thrombocytopenia has not previously been reported. All children had clinical purpura in the neonatal period; in three ...

journal_title：Journal of child neurology

authors： Manson J,Speed I,Abbott K,Crompton J

更新日期：1988-04-01 00:00:00

abstract：:Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use...

journal_title：Journal of child neurology

authors： Butrum MW,Williams LS,Golomb MR

更新日期：2003-11-01 00:00:00

abstract：:Healthy Chinese individuals (n = 168), aged from 24 hours to 30 years, were studied to establish the following normal values: (1) motor conduction velocity, distal latency, amplitude, and F-wave velocity in the median, ulnar, tibial, and peroneal nerves; (2) H-reflex velocity and latency in the tibial nerve for all su...

journal_title：Journal of child neurology

authors： Cai F,Zhang J

更新日期：1997-01-01 00:00:00

abstract：:Brain abscesses are uncommon in neonates. Klebsiella pneumoniae is a very uncommon microbial agent to cause brain abscess. We report 2 infants with Klebsiella pneumoniae sepsis who developed brain abscesses. One infant was a premature neonate who required mechanical ventilation for respiratory distress syndrome and su...

journal_title：Journal of child neurology

authors： Sundaram V,Agrawal S,Chacham S,Mukhopadhyay K,Dutta S,Kumar P

更新日期：2010-03-01 00:00:00

abstract：:The use of corticosteroids for treatment of Duchenne and Becker muscular dystrophy in clinical practice from 1991 through 2005 was reviewed in a large population-based cohort (MD STARnet) of boys in 4 regional sites and 6 clinics of the United States. Corticosteroid use increased from 20% (11 of 56 individuals) in 199...

journal_title：Journal of child neurology

authors： Matthews DJ,James KA,Miller LA,Pandya S,Campbell KA,Ciafaloni E,Mathews KD,Miller TM,Cunniff C,Meaney FJ,Druschel CM,Romitti PA,Fox DJ,MD STARnet.

更新日期：2010-11-01 00:00:00

abstract：:A large body of evidence suggests that genetic factors influence liability to many common neurodevelopmental disorders. Examples include Tourette syndrome, attention-deficit hyperactivity disorder, autism, and dyslexia. Characterization of the genetic component of susceptibility to these conditions at a molecular leve...

journal_title：Journal of child neurology

authors： Ryan SG

更新日期：1999-03-01 00:00:00

abstract：:Vibratory feedback can be a useful tool for rehabilitation. We examined its use in children with dystonia to understand how it affects muscle activity in a population that does not respond well to standard rehabilitation. We predicted scaled vibration (ie, vibration that was directly or inversely proportional to muscl...

journal_title：Journal of child neurology

authors： Liyanagamage SA,Bertucco M,Bhanpuri NH,Sanger TD

更新日期：2017-02-01 00:00:00

abstract：:A suppository for rectal administration of carbamazepine has been developed for situations in which it is unsuitable to use the oral route of administration. In an open, controlled, within-patient study, the pharmacokinetics, clinical efficacy, and tolerability of carbamazepine slow-release tablets were compared with ...

journal_title：Journal of child neurology

authors： Arvidsson J,Nilsson HL,Sandstedt P,Steinwall G,Tonnby B,Flesch G

更新日期：1995-03-01 00:00:00

abstract：:Subacute necrotizing encephalomyelopathy (Leigh syndrome) refers to a nebulous disease entity characterized by lactic acidosis, a wide variety a clinical manifestations, and a consistent conglomeration of pathologic findings. Several abnormalities in metabolism have been delineated in association with Leigh syndrome, ...

journal_title：Journal of child neurology

authors： Gingold MK,Bodensteiner JB,Schochet SS,Jaynes M

更新日期：1999-05-01 00:00:00

abstract：:Advances in intraoperative neuroelectrodiagnostic testing and microneurosurgical techniques have made it possible to accurately explore the brachial plexus of neonates. Since 1987, we have followed 250 infants with birth-related brachial plexus injuries, and successful operations have been completed on more than 70 in...

journal_title：Journal of child neurology

authors： Laurent JP,Lee RT

更新日期：1994-04-01 00:00:00

abstract：:The ethical issues concerning the use of fetal tissue as a source for organ transplantation has focused interest on anencephaly. For reasons that are not entirely clear, the incidence of anencephaly has been declining. As anencephaly is easily recognized and invariably fatal, mortality figures provide an excellent ref...

journal_title：Journal of child neurology

authors： Snyder RD,Fakadej AF,Riggs JE

更新日期：1991-10-01 00:00:00

abstract：:Postictal psychoses are brief psychotic episodes that usually occur after poorly controlled partial complex seizure clusters. The psychosis commonly appears following a lucid interval, ranging from a few hours to days after seizure termination. An underlying structural brain abnormality is common and usually involves ...

journal_title：Journal of child neurology

authors： Nissenkorn A,Moldavsky M,Lorberboym M,Raucher A,Bujanover Y,Lerman-Sagie T

更新日期：1999-12-01 00:00:00

abstract：:A nondescribed behavioral disorder was observed during wake-sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic-and occasionally hypnopompic-periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which co...

journal_title：Journal of child neurology

authors： Pareja JA,Cuadrado ML,García-Morales I,Gil-Nagel A,Franch O

更新日期：2008-08-01 00:00:00

abstract：:Freely available software, derived from the past 2 decades of neuroimaging research, is significantly more flexible for research purposes than presently available clinical tools. Here, we describe and demonstrate the utility of rapidly deployable analysis software to facilitate trainee-driven translational neuroimagin...

journal_title：Journal of child neurology

authors： Cohen A,Kenney-Jung D,Botha H,Tillema JM

更新日期：2017-01-01 00:00:00

abstract：:Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. Epidemiologic data suggest that malnutrition is a common feature in amyotrophic lateral sclerosis and being overweight or obese confers a survival advantage in this patient population. In amyotrophic lateral sclerosis mouse models, a high-fat diet has...

journal_title：Journal of child neurology

authors： Paganoni S,Wills AM

更新日期：2013-08-01 00:00:00