Characteristic brain magnetic resonance imaging (MRI) findings in neonates with tuberous sclerosis complex.

abstract：:Computerized neurocognitive testing has become a growing practice across medical populations, but particularly within sports medicine and the management of sports-related concussion. Although traditional neuropsychological measures are solely administered and interpreted by neuropsychologists, computerized cognitive t...

journal_title：Journal of child neurology

authors： De Marco AP,Broshek DK

更新日期：2016-01-01 00:00:00

abstract：:Discrimination of odorous molecules in amniotic fluid occur after 30 weeks' gestation; fetuses exhibit differential responses to maternal diet. Olfactory reflexes enable reliable neonatal testing. Olfactory bulbs can be demonstrated reliably by MRI after 30 weeks' gestation, and their hypoplasia or aplasia also docume...

journal_title：Journal of child neurology

authors： Sarnat HB,Flores-Sarnat L,Wei XC

更新日期：2017-05-01 00:00:00

abstract：:Neurologic toxicity may occur as a direct effect of cancer and its therapy or indirectly because of a dysfunctional immune system. The authors report the development of axonal neuropathy, myelopathy, and leucoencephalopathy associated with glutamic acid decarboxylase-65 (GAD) antibodies in 4 children with progressive ...

journal_title：Journal of child neurology

authors： Ledet DS,Handgretinger R,Bertorini TE,Hale GA,Ribeiro RC,Khan RB

更新日期：2008-11-01 00:00:00

abstract：:The association between tuberous sclerosis complex and intracranial abnormalities such as hemimegalencephaly, schizencephaly, intracranial arterial aneurysms, and corpus callosum agenesis/dysplasia has been reported in the recent literature. However, the association between tuberous sclerosis complex and bilateral tem...

journal_title：Journal of child neurology

authors： Tatli M,Guzel A

更新日期：2007-06-01 00:00:00

abstract：:Meralgia paresthetica is a mononeuropathy affecting the lateral femoral cutaneous nerve that is extremely rare in children. Two adolescent females, aged 11 and 13 years, presented due to tingling and pain on the side of the thigh of 2 to 3 weeks duration. The general examination revealed mild obesity; the neurological...

journal_title：Journal of child neurology

authors： Fernández-Mayoralas DM,Fernández-Jaén A,Jareño NM,Pérez BC,Fernández PM,Sola AG

更新日期：2010-01-01 00:00:00

abstract：:Two children with isolated congenital anosmia, a rare syndrome of deficient restricted neuronal migration, are presented with early diagnosis confirmed by standardized smell testing and detailed neuroimaging studies. Recognition of this disorder and its spectrum of presentations provides important insights into the mo...

journal_title：Journal of child neurology

authors： Assouline S,Shevell MI,Zatorre RJ,Jones-Gotman M,Schloss MD,Oudjhane K

更新日期：1998-04-01 00:00:00

abstract：:Tuberous sclerosis complex is an autosomal dominant multisystem disorder. Spontaneous mutations occur in up to 60% of patients with gene loci located on chromosomes 9q34 (TSC1) and 16p13 (TSC2). Diagnosis is established with the identification of various neurocutaneous markers and multiple organ system hamartomas. The...

journal_title：Journal of child neurology

authors： DiMario FJ Jr

更新日期：2004-09-01 00:00:00

abstract：:The spectrum of clinical disease in juvenile Huntington's disease differs from that seen in adults. Younger patients often present with seizures, dystonia and rigidity. The mechanism and type of seizures, timing of onset and electrographic features have not been well characterized in either adults or children. We desc...

journal_title：Journal of child neurology

authors： Ullrich NJ,Riviello JJ Jr,Darras BT,Donner EJ

更新日期：2004-07-01 00:00:00

abstract：:Maple syrup urine disease is a disorder of branched-chain keto acid metabolism. Three children were diagnosed with the intermediate form of maple syrup urine disease during routine evaluation of mental retardation. Clinical features were characterized by mental retardation, seizures, autistic features, and movement di...

journal_title：Journal of child neurology

authors： Bindu PS,Shehanaz KE,Christopher R,Pal PK,Ravishankar S

更新日期：2007-07-01 00:00:00

abstract：:We assessed pediatrician awareness of the parameter ''Evaluating the first non-febrile seizure in children'' and how the concepts of this parameter were incorporated into practice. Although most reported caring for children with seizures, 60% were not aware of the practice parameter. When given the clinical scenario o...

journal_title：Journal of child neurology

authors： Bale JF Jr,Caplin DA,Bruse JD,Folland D

更新日期：2009-12-01 00:00:00

abstract：:We present a case of a 1-year-old female child who was referred to the Early Intervention Clinic for evaluation of developmental delay and progressively enlarging head size. Developmental assessment revealed significant motor delay with borderline cognitive impairment. MRI of the brain revealed generalized ventriculom...

journal_title：Journal of child neurology

authors： Rai B,Sharif F

更新日期：2015-03-01 00:00:00

abstract：:Pontine tegmental cap dysplasia is a rare hindbrain malformation syndrome with a hypoplastic pons, a tissue protrusion into the fourth ventricle, and cranial nerve dysfunction. We here report clinical, imaging, and genetic findings of the first extremely low-birth-weight preterm infant with pontine tegmental cap dyspl...

journal_title：Journal of child neurology

authors： Picker-Minh S,Hartenstein S,Proquitté H,Fröhler S,Raile V,Kraemer N,Apeshiotis S,Leipoldt M,Kalache KD,Morris-Rosendahl D,Boltshauser E,Chen W,Kaindl AM

更新日期：2017-03-01 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 goal of the research was to point out the importance of early prespeech therapy for babies suffering from at-birth-acquired unilateral or bilateral lesion in the prespeech period of development. On the basis of existing studies and experience in the field, a protocol and methodology for the observation of the phon...

journal_title：Journal of child neurology

authors： Gec V

更新日期：2007-01-01 00:00:00

abstract：:A patient who has been declared brain dead is considered to be both legally and clinically dead. However, we report 2 pediatric cases in which the patients demonstrated clinical signs of brain stem function that are not recognized or tested in current Canadian or US guidelines. ...

journal_title：Journal of child neurology

authors： Hansen G,Joffe AR

更新日期：2017-06-01 00:00:00

abstract：:The goal of this project was to promote bicycle helmet use via an inpatient educational program. We hypothesized that this program would increase bicycle helmet use. One hundred twenty inpatients with history of regular (>1 time per week) bicycle riding (mean age 10.0 ± 3.6 years; 67 males, 53 females; 57 whites, 59 b...

journal_title：Journal of child neurology

authors： Barnes VA,Maria BL,Caldwell AL,Hopkins I

更新日期：2013-11-01 00:00:00

abstract：:Multiple sclerosis and acute disseminated encephalomyelitis are demyelinating disorders of the central nervous system that can present initially as an acute focal demyelinating syndrome. We report an 11-year-old girl who initially presented with intractable vomiting and hypertension and later developed a subacute onse...

journal_title：Journal of child neurology

authors： Mostafapour SP,Enzmann D,North W,Hahn JS

更新日期：1995-11-01 00:00:00

abstract：:Fusiform dilation of the internal carotid artery complicates aggressive craniopharyngioma resection and occurs mainly in children. We report a case to describe the availability of endovascular treatment for this rare entity. A 13-year-old boy presented with headache for 2 years after resection of craniopharyngioma. A ...

journal_title：Journal of child neurology

authors： Li Q,Wang C,Xu J,You C

更新日期：2015-09-01 00:00:00

abstract：:Acute vascular events are rare in the pediatric population, but there is an association with the presence of antiphospholipid antibodies. When there is no other underlying medical disorder, this is referred to as primary antiphospholipid syndrome. We present a case of a 15-year-old boy who developed an acute superior ...

journal_title：Journal of child neurology

authors： Saxonhouse MA,Bhatti MT,Driebe WT Jr,Freeman BE,Maria BL,Carney PR

更新日期：2002-05-01 00:00:00

abstract：:Acute transverse myelitis is a clinical syndrome affecting the spinal cord, which is characterized by acute onset of motor, sensory, and autonomic dysfunction. Approximately 20% of cases of acute transverse myelitis occur in children. This review summarizes the current published literature on acute transverse myelitis...

journal_title：Journal of child neurology

authors： Wolf VL,Lupo PJ,Lotze TE

更新日期：2012-11-01 00:00:00

abstract：:Epilepsy is a very uncommon first manifestation of a neuroblastoma. A 5-month-old healthy infant presented with acute onset seizures and developmental regression. Extensive investigation was remarkable for urinary vanillylmandelic acid and homovanillic acid peaks. Abdominopelvic magnetic resonance imaging (MRI) disclo...

journal_title：Journal of child neurology

authors： Martins CL,Monteiro JP,Pereira F,Calhau P,Fonseca MJ

更新日期：2014-01-01 00:00:00

abstract：:Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency. Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. Leukocyte acid lipa...

journal_title：Journal of child neurology

authors： Bindu PS,Taly AB,Christopher R,BharatKumar PV,Panda S,Netravathi M,Ravishankar S,Mahadevan A,Yasha TC,Gayathri N

更新日期：2007-12-01 00:00:00

abstract：:In addition to the typical infantile spasm symptoms, several other symptoms, such as eye movements, have been reported to be associated with infantile spasms, although the relationship between the typical spasms and these other events is not fully understood. Here we present a case with West syndrome. We observed the ...

journal_title：Journal of child neurology

authors： Kakisaka Y,Kobayashi T,Hino-Fukuyo N,Uematsu M,Numata Y,Mori M,Kure S

更新日期：2013-11-01 00:00:00

abstract：:Tuberous sclerosis complex is a disease that affects many organs, including the central nervous system. Nervous system involvement in the form of hamartomas often results in seizures. In this study we wanted to determine the outcome of epilepsy in tuberous sclerosis complex and determine whether interictal electroence...

journal_title：Journal of child neurology

authors： Husain AM,Foley CM,Legido A,Chandler DA,Miles DK,Grover WD

更新日期：2000-02-01 00:00:00

abstract：:Seizures occur more frequently early in life. Some of these early seizures may eventually become epilepsy. Others are reactive seizures due to excessive environmental stimuli that, in any other age group, might not have elicited a similar response. To understand the developmental aspects of seizures and epilepsy in hu...

journal_title：Journal of child neurology

authors： Kubová H,Moshé SL

更新日期：1994-10-01 00:00:00

abstract：:Aminoacyl-transfer ribonucleic acid (RNA) synthetases (ARSs) are a group of enzymes required for the first step of protein translation. Each aminoacyl-transfer RNA synthetase links a specific amino acid to its corresponding transfer RNA component within the cytoplasm, mitochondria, or both. Mutations in ARSs have been...

journal_title：Journal of child neurology

authors： McMillan HJ,Humphreys P,Smith A,Schwartzentruber J,Chakraborty P,Bulman DE,Beaulieu CL,FORGE Canada Consortium.,Majewski J,Boycott KM,Geraghty MT

更新日期：2015-07-01 00:00:00

abstract：:The electrophysiologic findings in an infant with congenital facial diplegia (Möbius syndrome) are presented. As to serial electrically elicited blink reflexes, the R1 amplitude was significantly reduced and the R2 latency was significantly prolonged. The M response of the orbicularis oculi muscle showed slightly redu...

journal_title：Journal of child neurology

authors： Hatanaka T,Yoshijima S,Hayashi N,Owa K,Suehiro Y,Shinomiya K

更新日期：1993-04-01 00:00:00

abstract：:A 3-year-old boy who had been a 23-week premature infant had subacute onset of abnormal gait, which progressed to generalized weakness with severe weakness of neck extensors. He had U waves on electrocardiography. His serum potassium was 1.8 mmol/L. The patient had a gastrostomy tube due to chronic feeding issues and ...

journal_title：Journal of child neurology

authors： Brosch JR,Sant RV,Golomb MR

更新日期：2011-03-01 00:00:00

abstract：:Sensory rhizotomy in the treatment of spasticity has been evolving over the past century since its first use in 1888. This paper reviews its historical evolution, current physiologic basis, range in current surgical technique, and the outcome, along with complications seen over the past decade since its repopularizati...

journal_title：Journal of child neurology

authors： Abbott R

更新日期：1996-11-01 00:00:00

abstract：:Past, present, and future research activities in Rett syndrome are described. Studies to this point have failed to define a biologic or chemical marker. It is hoped that heightened activity in this unique syndrome will provide guidance for the diagnosis of this disorder, and with it, better understanding. ...

journal_title：Journal of child neurology

authors： Percy AK

更新日期：1988-01-01 00:00:00