Primary and secondary carnitine deficiency syndromes.

abstract：:Intravenous immunoglobulin has been reported to be an effective treatment for infantile spasms. Juvenile spasms are electrically and clinically similar to infantile spasms but occur in a later age group. We retrospectively reviewed the charts of five children (aged 4.5-11.5 years) at our institution. Their primary sei...

journal_title：Journal of child neurology

authors： Bingel U,Pinter JD,Sotero de Menezes M,Rho JM

更新日期：2003-06-01 00:00:00

abstract：:To evaluate the consistency of the Hammersmith Infant Neurological Examination scores of very-low-birth-weight infants at 6 and 12 months of age and its correlation to cranial ultrasonography findings, we designed a prospective study between January 2005 and January 2008, in the tertiary Neonatal Unit of Aristotle Uni...

journal_title：Journal of child neurology

authors： Karagianni P,Rallis D,Kyriakidou M,Tsakalidis C,Pratsiou P,Nikolaidis N

更新日期：2014-11-01 00:00:00

abstract：:Respiratory syncytial virus is a common cause of acute respiratory infection in children. Previous reports have associated respiratory syncytial virus infection and acute neurologic symptoms, including apnea and seizures. This study examined the prevalence of acute neurologic symptoms associated with respiratory syncy...

journal_title：Journal of child neurology

authors： Kho N,Kerrigan JF,Tong T,Browne R,Knilans J

更新日期：2004-11-01 00:00:00

abstract：:Actinopathies are defined by missense mutations in the ACTA1 gene coding for sarcomeric actin, of which some 70 families have, so far, been identified. Often, but not always, muscle fibers carry large patches of actin filaments. Many such patients also have nemaline myopathy, qualifying actinopathies as a subgroup of ...

journal_title：Journal of child neurology

authors： Goebel HH,Brockmann K,Bönnemann CG,Warlo IA,Hanefeld F,Labeit S,Durling HJ,Laing NG

更新日期：2004-02-01 00:00:00

abstract：:Intractable epilepsies pose a therapeutic challenge. Precise localization of the epileptic focus is imperative before planning surgical intervention. Functional imaging is an important component of presurgical work-up. Positron emission tomography is unavailable in developing countries; hence, the need to evaluate the...

journal_title：Journal of child neurology

authors： Kalra V,Gulati S,Rana KS,Bal CS,Bhatia M

更新日期：2001-04-01 00:00:00

abstract：:The purpose of this study was to determine whether children with epilepsy undergoing valproate therapy and who are otherwise healthy have lower levels of serum and muscle carnitine. A total of 50 patients with epilepsy, 3 to 14 years of age, who were treated solely with valproate and free of abnormal neurologic findin...

journal_title：Journal of child neurology

authors： Anil M,Helvaci M,Ozbal E,Kalenderer O,Anil AB,Dilek M

更新日期：2009-01-01 00:00:00

abstract：:Acute necrotizing encephalopathy is a novel disease entity, proposed by Mizuguchi et al in 1995, that shows a characteristic selective and symmetric involvement of the thalamus, brain stem, and cerebellum. It usually leaves sequelae. The etiology of acute necrotizing encephalopathy is unknown. We describe here six pat...

journal_title：Journal of child neurology

authors： Yoshikawa H,Watanabe T,Abe T,Oda Y

更新日期：1999-04-01 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：:Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) 677C>T mutation (MTHFR TT) has been linked to an increased risk for stroke, coronary artery disease, and migraine headaches. The authors analyzed the potential link between MTHFR 677C>T homozygosity and childhood stroke. A true association might facilita...

journal_title：Journal of child neurology

authors： Alsayouf H,Zamel KM,Heyer GL,Khuhro AL,Kahwash SB,de los Reyes EC

更新日期：2011-03-01 00:00:00

abstract：:Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy an...

journal_title：Journal of child neurology

authors： Tsao CY,Mendell JR

更新日期：2006-02-01 00:00:00

abstract：:Neurofibromatosis type 1 is associated with executive dysfunctions and comorbidity with attention-deficit hyperactivity disorder (ADHD) in 30% to 50% of children. This study was designed to clarify the neurocognitive phenotype observed in neurofibromatosis type 1 by testing the hypothesis that children with neurofibro...

journal_title：Journal of child neurology

authors： Galasso C,Lo-Castro A,Di Carlo L,Pitzianti MB,D'Agati E,Curatolo P,Pasini A

更新日期：2014-10-01 00:00:00

abstract：:Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory fea...

journal_title：Journal of child neurology

authors： Jong Hee Chae,Ki Joong Kim,Yong Seung Hwang,Ki CS,Kim JW

更新日期：2007-11-01 00:00:00

abstract：:We report preliminary studies in 18 girls with Rett syndrome (15 typical, three atypical cases) who were studied using a number of neuropsychologic measures. Results indicate a relative preservation of gross motor and daily living skills at the developmental level of the age of onset of the condition. Other adaptive f...

journal_title：Journal of child neurology

authors： Fontanesi J,Haas RH

更新日期：1988-01-01 00:00:00

abstract：:Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interestin...

journal_title：Journal of child neurology

authors： Yaris N,Aynaci FM,Kalyoncu M,Odemiş E,Okten A

更新日期：2004-01-01 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：:Thromboembolic events during the perinatal period are responsible for irreversible brain damage owing to cerebral hypoxia and neuronal necrosis. We investigated the presence of thrombophilia risk factors in children with congenital neurologic disorders. Nineteen children (9 males and 10 females), aged 1 to 14 years (m...

journal_title：Journal of child neurology

authors： Tzoufi M,Giotopoulou S,Papadimitriou P,Dokou E,Kolaitis NI,Siamopoulou A,Vartholomatos G

更新日期：2005-06-01 00:00:00

abstract：:Rett syndrome is a sporadic disorder (except for a few familial cases) occurring in 1 in 10,000 to 1 in 23,000 girls worldwide. It is associated with profound mental and motor handicap. About 90% of cases involve a mutation in the methyl-CpG binding protein 2 gene (MECP2). The role of this gene in the pathogenesis of ...

journal_title：Journal of child neurology

authors： Armstrong DD

更新日期：2005-09-01 00:00:00

abstract：:Multiple risk factors contribute to cognitive impairment in children with β-thalassemia major. For a more refined understanding of this issue, we attempted to evaluate cognitive function in β-thalassemia major patients and identify the relationship between possible cognitive dysfunction and the following: demography, ...

journal_title：Journal of child neurology

authors： Raafat N,El Safy U,Khater N,Hassan T,Hassan B,Siam A,Youssef A,El Shabrawy A

更新日期：2015-03-01 00:00:00

abstract：:Mitochondrial medicine provides a metabolic perspective on the pathology of conditions linked with inadequate oxidative phosphorylation. Dysfunction in the mitochondrial machinery can result in improper energy production, leading to cellular injury or even apoptosis. Clinical presentations are often subtle, so clinici...

journal_title：Journal of child neurology

authors： Thornton B,Cohen B,Copeland W,Maria BL

更新日期：2014-09-01 00:00:00

abstract：:After obtaining familial informed consent, between January 1996 and July 1997, 173 children (5 to 15 years old) with sickle cell disease were enrolled in a prospective multicenter study using blood screening, transcranial Doppler ultrasonography (n = 143), cerebral magnetic resonance imaging (n = 144), and neuropsycho...

journal_title：Journal of child neurology

authors： Bernaudin F,Verlhac S,Fréard F,Roudot-Thoraval F,Benkerrou M,Thuret I,Mardini R,Vannier JP,Ploix E,Romero M,Cassé-Perrot C,Helly M,Gillard E,Sebag G,Kchouk H,Pracros JP,Finck B,Dacher JN,Ickowicz V,Raybaud C,Ponce

更新日期：2000-05-01 00:00:00

abstract：BACKGROUND:Moyamoya disease is a rare cerebrovascular disease characterized by progressive stenosis of the bilateral distal internal carotid arteries and their proximal branches. Both chorea and dystonia have been reported as the initial presentation of moyamoya disease. OBJECTIVE:The objective was to define the clini...

journal_title：Journal of child neurology

authors： Greene S,Bansal L,Coffman KA,Nardone R,Zuccoli G

更新日期：2016-04-01 00:00:00

abstract：:Movement disorders, a common problem in children with neurologic impairment, are receiving increasing clinical attention. The differences in movement disorders between adults and children are striking; presentation is frequently insidious and may be characterized by mild hypotonia. The clinical manifestations of extra...

journal_title：Journal of child neurology

authors： Edgar TS

更新日期：2003-09-01 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：: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：:This study assessed metabolic functioning of regional brain areas to address whether there is a neurometabolic profile reflecting the underlying neuropathology in individuals with autism spectrum disorders, and if varied profiles correlate with the clinical subtypes. Thirteen children (7-16 years) with autism spectrum...

journal_title：Journal of child neurology

authors： Gabis L,Wei Huang,Azizian A,DeVincent C,Tudorica A,Kesner-Baruch Y,Roche P,Pomeroy J

更新日期：2008-07-01 00:00:00

abstract：:High-functioning adolescents and young adults with mitochondrial disease are now attempting transitions to postsecondary environments. This pilot and case study explores factors that interfere with their successful transition through behavior-rating scales addressing academic skills and behavior. In the Behavior Asses...

journal_title：Journal of child neurology

authors： Schreiber H

更新日期：2012-12-01 00:00:00

abstract：:Autosomal recessive spinal muscular atrophy is caused by mutations in the survival motoneuron (SMN) gene. There are two nearly identical copies of this gene present on chromosome 5q13; however, only the telomeric copy of this gene is affected in spinal muscular atrophy. In this study, we describe a new method to detec...

journal_title：Journal of child neurology

authors： Mazzei R,Conforti FL,Muglia M,Sprovieri T,Patitucci A,Magariello A,Gabriele AL,Quattrone A

更新日期：2003-04-01 00:00:00

abstract：:Tuberous sclerosis complex is a multisystem, chronic genetic condition characterized by systemic growth of benign tumors and often accompanied by epilepsy, autism spectrum disorders, and intellectual disability. Nonetheless, the neurodevelopmental phenotype of these patients is not often detailed. The authors describe...

journal_title：Journal of child neurology

authors： Gipson TT,Poretti A,Thomas EA,Jenkins KT,Desai S,Johnston MV

更新日期：2015-12-01 00:00:00

abstract：:Magnetic resonance imaging is an important tool in the evaluation of patients with seizures. Frequently, abnormalities are found that lead to further, invasive testing. The first child with transient abnormal findings on magnetic resonance imaging during a time of frequent partial seizures is presented. This lesion di...

journal_title：Journal of child neurology

authors： Riela AR,Sires BP,Penry JK

更新日期：1991-04-01 00:00:00

abstract：:The authors reviewed the medical records of very low-birth-weight infants admitted from 1998 to 2007 and compared neurodevelopmental outcomes with their previously reported data from 1989 to 1997. The recent group included 824 infants, and the previous group included 471 infants. Neurodevelopmental outcomes were class...

journal_title：Journal of child neurology

authors： Jang DH,Sung IY,Jeon JY,Moon HJ,Kim KS,Kim EA,Lee BS

更新日期：2011-11-01 00:00:00