Transient nonketotic hyperglycinemia: two case reports and literature review.

abstract：BACKGROUND:Sulfatides, the most abundant glycosphingolipids, are a major component of myelin. They are degraded by the combined action of sphingolipid activator protein and arylsulfatase A. Deficiency of either of these entities causes metachromatic leukodystrophy (MLD). On the basis of age of onset, this entity is div...

journal_title：Pediatric neurology

authors： Dubey R,Chakrabarty B,Gulati S,Sharma MC,Deopujari S,Baheti N,Santosh V,Pai G,Kabra M

更新日期：2014-06-01 00:00:00

abstract：:l-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid metabolism. A 5-year-old boy presented with eyelid myoclonia with absences that proved difficult to control with first-line anticonvulsants. An electroencephalogram produced profoundly abnormal results, with gene...

journal_title：Pediatric neurology

authors： Mete A,Isikay S,Sirikci A,Ozkur A,Bayram M

更新日期：2012-03-01 00:00:00

abstract：:Moyamoya is a chronic, progressive steno-occlusive arteriopathy that typically affects the anterior circulation arteries of the circle of Willis. A network of deep thalamoperforating and lenticulostriate collaterals develop to by-pass the occlusion giving rise to the characteristic angiographic "puff of smoke" appeara...

journal_title：Pediatric neurology

authors： Dlamini N,Muthusami P,Amlie-Lefond C

更新日期：2019-02-01 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：:Earlier reports on T2-weighted magnetic resonance imaging (MRI) in the classical form of Pelizaeus-Merzbacher disease seemed to divide the patterns of the high-intensity lesions in the white matter into three subtypes: type I, diffusely hemispheric and corticospinal; type II, diffusely hemispheric without brainstem le...

journal_title：Pediatric neurology

authors： Nezu A,Kimura S,Takeshita S,Osaka H,Kimura K,Inoue K

更新日期：1998-04-01 00:00:00

abstract：:This study was undertaken to investigate the protective role of lactate on the hypoxic brain in newborn rats. A total of 107 7-day-old Wistar rats were divided into three groups. The lactate accumulation group was given 5% oxygen and 95% nitrogen for 30 minutes. The lactate elimination group was given 5% oxygen, a con...

journal_title：Pediatric neurology

authors： Ohki S,Togari H,Sobajima H,Fujimoto S,Kobayashi M,Hyodo J

更新日期：1999-08-01 00:00:00

abstract：:Primary malignant melanoma of the meninges is described in a 5-year-old boy who presented with a 3-month history suggestive of subacute meningitis. Clinically the diagnosis of tuberculous meningitis was made and antituberculous treatment was begun. Despite this treatment, the patient's condition continued to deteriora...

journal_title：Pediatric neurology

authors： Nicolaides P,Newton RW,Kelsey A

更新日期：1995-02-01 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：: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：:Risk factors for mortality of young children with cerebral palsy were studied using a sample of 12,709 children aged 0.5-3.5 years with cerebral palsy who had received services from the State of California between 1980 and 1995. The most powerful prognostic factors for survival were simple functional items: mobility a...

journal_title：Pediatric neurology

authors： Strauss DJ,Shavelle RM,Anderson TW

更新日期：1998-02-01 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：:Perinatal stroke is presented as the ideal human model of developmental neuroplasticity. The precise timing, mechanisms, and locations of specific perinatal stroke diseases provide common examples of well defined, focal, perinatal brain injuries. Motor disability (hemiparetic cerebral palsy) constitutes the primary ad...

journal_title：Pediatric neurology

authors： Kirton A

更新日期：2013-02-01 00:00:00

abstract：:A 6-year-old boy with the typical clinical features of infantile neuroaxonal dystrophy was examined with magnetic resonance imaging. The findings suggested increased metal deposition in the globus pallidus. Magnetic resonance imaging findings of Hallervorden-Spatz syndrome and infantile neuroaxonal dystrophy are simil...

journal_title：Pediatric neurology

authors： Ito M,Okuno T,Asato R,Mutoh K,Nakano S,Kataoka K,Fujii T,Mikawa H,Saida K

更新日期：1989-07-01 00:00:00

abstract：BACKGROUND:The Hammersmith Infant Neurological Examination is one of several useful tools for early identification of cerebral palsy; however, cut-off scores for cerebral palsy do not consistently distinguish infants with hemiplegia from those typically developing. We hypothesized that use of an asymmetry score, in add...

journal_title：Pediatric neurology

authors： Hay K,Nelin M,Carey H,Chorna O,Moore-Clingenpeel Ma Mas M,Maitre N,NCH Early Developmental Group.

更新日期：2018-10-01 00:00:00

abstract：:The object of this study was to investigate the potential association of infections, especially group A hemolytic streptococcal infection, with the abrupt onset/exacerbation of tics or obsessive-compulsive behaviors. A structured clinical interview was used to evaluate 80 consecutive children, 5-17 years of age, with ...

journal_title：Pediatric neurology

authors： Singer HS,Giuliano JD,Zimmerman AM,Walkup JT

更新日期：2000-05-01 00:00:00

abstract：:To clarify reflex profiles in the first year of life in connection with categories of neurologic abnormality, eight primitive reflexes (i.e., the palmar grasp reflex, the plantar grasp reflex, the Galant response, the asymmetric tonic neck reflex, the suprapubic extensor reflex, the crossed extensor reflex, the Rossol...

journal_title：Pediatric neurology

authors： Zafeiriou DI,Tsikoulas IG,Kremenopoulos GM

更新日期：1995-09-01 00:00:00

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：:Forty-seven patients (39 boys and 8 girls) with infantile autism whose clinical symptoms had matched the diagnostic criteria of DSM III were studied cytogenetically for the occurrence of fragile X [fra(X)] syndrome. The existence of fra(X) chromosome in these patients was screened first by culturing peripheral blood l...

journal_title：Pediatric neurology

authors： Matsuishi T,Shiotsuki Y,Niikawa N,Katafuchi Y,Otaki E,Ando H,Yamashita Y,Horikawa M,Urabe F,Kuriya N

更新日期：1987-09-01 00:00:00

abstract：:The frequency and severity of neurologic symptoms in children with systemic cancer is unknown. The authors reviewed the records of children with systemic cancer for whom a neurologic consultation was requested between 1993 and 1996. The 157 patients had 161 malignancies and 205 consultations. Leukemia (59) and lymphom...

journal_title：Pediatric neurology

authors： Antunes NL,De Angelis LM

更新日期：1999-02-01 00:00:00

abstract：:This paper reports 26 consecutive cases of cerebral cysticercosis in children, 21 presenting with intraparenchymal mass lesions, two with encephalitic disease, and three with intraventricular (racemous) cysticercosis. The intraparenchymal and encephalitic forms of the disease were benign. Regression of the lesions occ...

journal_title：Pediatric neurology

authors： Mitchell WG,Snodgrass SR

更新日期：1985-05-01 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：:The purpose of this study was to search for STA gene defects in three families with clinically typical Emery-Dreifuss muscular dystrophy. Emery-Dreifuss is an X-linked muscular dystrophy with humeroperoneal weakness and life-threatening, but treatable, cardiac abnormalities in male patients and in female carriers. The...

journal_title：Pediatric neurology

authors： Nevo Y,Al-Lozi M,Parsadanian AS,Elliott JL,Connolly AM,Pestronk A

更新日期：1999-07-01 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：:Despite the many dire pronouncements of the moribund status of the academic triple threat, this species is far from extinct. Maintenance and, indeed, expansion of this pool of individuals requires their identification and support early in their careers, and nurturing and mentoring throughout their careers. Increasing ...

journal_title：Pediatric neurology

authors： Schor NF

更新日期：2003-11-01 00:00:00

abstract：:Headache hygiene refers to self-management behaviors and practices aimed at reducing headache-related disability and improving self-efficacy. Although self-management interventions have an established place in the management of a wide range of chronic conditions, there is still not a standardized approach to this in p...

journal_title：Pediatric neurology

authors： Barmherzig R,Lagman-Bartolome AM,Marlowe S,Kohut SA,Gunn G,Olivieri H,Mulligan J,Grundy-Bozinis K,Gladstone J,Lay C,MacGregor D

更新日期：2020-02-01 00:00:00

abstract：BACKGROUND:Prevalence and contribution of intracranial and extracranial arterial stenosis to stroke risk were assessed prospectively in children and young adults with sickle cell disease. METHODS:In this cross-sectional study, children and young adults (mean = 19.4 years) with sickle cell disease underwent neurologica...

journal_title：Pediatric neurology

authors： Schlotman AA,Donahue MJ,Kassim AA,Lee CA,Waddle SL,Pruthi S,Davis LT,Rodeghier M,DeBaun MR,Jordan LC

更新日期：2021-01-01 00:00:00

abstract：:Although valproic acid (VPA) is used to treat infantile spasms, VPA's efficacy in infantile spasms has not been determined in a controlled study. This study evaluated the effect of VPA on infantile spasms in patients who had not responded to adrenocorticotropin (ACTH) and corticosteroid therapy. The hypotheses were te...

journal_title：Pediatric neurology

authors： Dyken PR,DuRant RH,Minden DB,King DW

更新日期：1985-01-01 00:00:00

abstract：:We investigated whether children presenting with a first seizure experienced anxiety and depressive signs. Children (aged 7-17 years) with a first unprovoked afebrile seizure participated. These patients (mean age, 12 +/- 2.7 years S.D.; 14 female/8 male) completed the Revised Child Manifest Anxiety Scale (n = 22) and...

journal_title：Pediatric neurology

authors： Loney JC,Wirrell EC,Sherman EM,Hamiwka LD

更新日期：2008-10-01 00:00:00

abstract：BACKGROUND:Although cerebral palsy is reported to have a higher prevalence in low-resource settings, there are few studies describing risk factors for cerebral palsy in these settings. A better understanding of the unique risk factors affecting children with cerebral palsy in low-resource settings could optimize both r...

journal_title：Pediatric neurology

authors： Monokwane B,Johnson A,Gambrah-Sampaney C,Khurana E,Baier J,Baranov E,Westmoreland KD,Mazhani L,Steenhoff AP,Bearden DR

更新日期：2017-12-01 00:00:00

abstract：:We report a 13-year-old female who experienced symptoms and signs of Rasmussen encephalitis for the first time at the age of 5 years. Various therapeutic procedures, including conventional and new antiepileptic drugs, steroids, immunoglobulin, plasma exchanges, and partial hemispherectomy, were applied, but their resu...

journal_title：Pediatric neurology

authors： Marjanovic BD,Stojanov LM,Zdravkovic DS,Kravljanac RM,Djordjevic MS

更新日期：2003-08-01 00:00:00