Cortical atrophy and cognitive performance in infantile nephropathic cystinosis.

abstract：BACKGROUND:Distinguishing patients with psychogenic nonsyncopal collapse (PNSC), a conversion disorder that resembles syncope, can pose a difficult clinical challenge. Using the open-ended question "what does it feel like to faint?," the present study aimed to characterize how patients with PNSC perceive and communicat...

journal_title：Pediatric neurology

authors： Heyer GL

更新日期：2019-06-01 00:00:00

abstract：:Two siblings, a 27-year-old man and his 24-year-old sister were diagnosed with classic transferase deficiency galactosemia at birth and were treated with strict lactose restriction. Despite well-documented dietary management, both siblings are mentally retarded and manifest a progressive neurologic condition character...

journal_title：Pediatric neurology

authors： Koch TK,Schmidt KA,Wagstaff JE,Ng WG,Packman S

更新日期：1992-05-01 00:00:00

abstract：:Rhizomelic chondrodysplasia punctata is a rare genetic disorder of peroxisomal metabolism that is characterized clinically by shortening of the proximal limbs, cataracts, a characteristic facial appearance, failure to thrive, and psychomotor retardation. This report describes a newborn with a severe phenotype whose ne...

journal_title：Pediatric neurology

authors： Goh S

更新日期：2007-11-01 00:00:00

abstract：:Three children ranging in age from 2 to 5 years with acute disseminated encephalomyelitis (ADEM) were successfully treated with high-dose intravenous immunoglobulin (IVIG). Their symptoms were somnolence, fever, headache, vomiting, and resting tremor. In all of these patients, it was difficult to distinguish the condi...

journal_title：Pediatric neurology

authors： Nishikawa M,Ichiyama T,Hayashi T,Ouchi K,Furukawa S

更新日期：1999-08-01 00:00:00

abstract：:Despite significant improvement in mortality rate, survivors of neonatal bacterial meningitis experience a significant incidence of neurodevelopmental sequelae. Neuropathologic studies have demonstrated vasculitis, arachnoiditis, and ventriculitis with secondary edema and encephalomalacia. Areas of cerebral infarction...

journal_title：Pediatric neurology

authors： Ment LR,Ehrenkranz RA,Duncan CC

更新日期：1986-09-01 00:00:00

abstract：BACKGROUND:Pediatric patients with epilepsy are at risk for low vitamin D levels, increasing the risk for bone fractures, yet standardized bone health screening is not part of routine care. METHODS:We surveyed pediatric neurologists (n = 68) at our center regarding screening practices, using an 11-item survey; constru...

journal_title：Pediatric neurology

authors： Patel AA,An S,Schomer M,Julich K,Elitt C,Heath J,Putman MS,Loddenkemper T

更新日期：2020-01-01 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：:Carpal tunnel syndrome, although rare, is known to occur in children mainly because of genetic or metabolic disorders. The clinical findings are variable and include symptoms of burning pain, tingling, numbness, and weakness or atrophy in the hands of the patients. It is usually diagnosed by demonstration of prolonged...

journal_title：Pediatric neurology

authors： Unal O,Ozçakar L,Cetin A,Kaymak B

更新日期：2003-10-01 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：: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：: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：: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：:Postictal psychosis is a state of psychosis following repeated or prolonged complex partial seizures with or without secondary generalization and is well described in adult epilepsy literature. It is sparsely reported in the pediatric literature. This report describes a 12-year-old male presenting with status epilepti...

journal_title：Pediatric neurology

authors： Joshi CN,Booth FA,Sigurdson ES,Bolton JM,Shah NS

更新日期：2006-05-01 00:00:00

abstract：:Leigh syndrome, caused by dysfunction in mitochondrial energy metabolism, is an inherited, heterogeneous, and progressive neurodegenerative disorder of infancy and childhood. From 1983 to August 2006, 14 cases diagnosed with Leigh syndrome were studied in terms of characteristic neuroimaging findings and abnormal mito...

journal_title：Pediatric neurology

authors： Lee HF,Tsai CR,Chi CS,Lee HJ,Chen CC

更新日期：2009-02-01 00:00:00

abstract：:Central nervous system manifestations of acute myeloid leukemia are rare at presentation. Acute cranial nerve findings on neurologic examination can be indications for brain imaging. Magnetic resonance imaging can highlight cranial nerves emerging from the brainstem, particularly if they are gadolinium-enhanced or thi...

journal_title：Pediatric neurology

authors： Mott J,Carlson MD

更新日期：2012-11-01 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：:Seizures are an early sign of brain injury in newborns. These seizures are in most cases repetitive or associated with asymptomatic electrographic seizures. Despite the relative resistance of the immature brain to seizure-induced brain damage, there is more and more evidence that neonatal seizures impair normal brain ...

journal_title：Pediatric neurology

authors： Thibeault-Eybalin MP,Lortie A,Carmant L

更新日期：2009-03-01 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：:Proteolipid protein (PLP) is the major myelin protein of the central nervous system and is widely believed to play an important structural role in maintaining the myelin compaction. We have studied the early developmental changes of PLP with immunohistochemical methods. Our data demonstrate for the first time a compar...

journal_title：Pediatric neurology

authors： Iai M,Yamamura T,Takashima S

更新日期：1997-10-01 00:00:00

abstract：:In patients who undergo metabolic decompensation from urea cycle disorders, cerebrospinal fluid glutamine level may be a better marker of cerebral dysfunction than blood ammonia or glutamine levels. However, obtaining cerebrospinal fluid by lumbar puncture carries risk in these acutely ill patients with cerebral edema...

journal_title：Pediatric neurology

authors： Kojic J,Robertson PL,Quint DJ,Martin DM,Pang Y,Sundgren PC

更新日期：2005-02-01 00:00:00

abstract：:This study investigates the expression of some neurotrophic factors (brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor) in the cerebrospinal fluid of infants suffering from idiopathic congenital central hypoventilation syndrome and determines their correlations with this syn...

journal_title：Pediatric neurology

authors： Chiaretti A,Zorzi G,Di Rocco C,Genovese O,Antonelli A,Piastra M,Polidori G,Aloe L

更新日期：2005-11-01 00:00:00

abstract：BACKGROUND:Posterior ischemic optic neuropathy results from ischemia of the retrobulbar aspect of the optic nerve. It presents as acute loss of vision without optic disc swelling. This is rare in children, with only seven cases reported to date. Neuroimaging is frequently used to aid in the diagnosis of acute visual co...

journal_title：Pediatric neurology

authors： Harrar DB,Solomon J,Shah AS,Vaughn J,Durbin AD,Rivkin MJ

更新日期：2018-07-01 00:00:00

abstract：:Two brothers with congenital myotonic dystrophy also had cystinuria with large renal stones. This report is the first to document the concurrence of cystinuria and congenital myotonic dystrophy. It is uncertain whether these two conditions are coincidental or share a common pathogenesis. ...

journal_title：Pediatric neurology

authors： Kimura S,Amemiya F,Fukazawa H

更新日期：1987-07-01 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：BACKGROUND:No therapies have been formally approved by the Food and Drug Administration for use in pediatric multiple sclerosis, a rare disease. OBJECTIVE:We evaluated the safety, efficacy, and pharmacokinetics of dimethyl fumarate in pediatric patients with multiple sclerosis. METHODS:FOCUS, a phase 2, multicenter s...

journal_title：Pediatric neurology

authors： Alroughani R,Das R,Penner N,Pultz J,Taylor C,Eraly S

更新日期：2018-06-01 00:00:00

abstract：BACKGROUND:Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT:A 4-month-old boy was referred for poor feeding, emesis, failu...

journal_title：Pediatric neurology

authors： Horst DM,Ruess L,Rusin JA,Bartholomew DW

更新日期：2014-11-01 00:00:00

abstract：INTRODUCTION:Glucose transporter type 1 deficiency syndrome is a metabolic encephalopathy that results from impaired glucose transport into the brain as the result of a mutation of the SLC2A1 gene. It has been recognized recently that these patients can present with a much broader clinical spectrum than previously thou...

journal_title：Pediatric neurology

authors： Ohshiro-Sasaki A,Shimbo H,Takano K,Wada T,Osaka H

更新日期：2014-01-01 00:00:00

abstract：:We report a boy 20 months of age with encephalopathy, petechiae, and ethylmalonic aciduria (EPEMA). Other clinical features were severe hypotonia, orthostatic acrocyanosis, and chronic diarrhea. Magnetic resonance imaging (MRI) of the brain demonstrated bilateral lesions in the lenticular and caudate nuclei, periaqued...

journal_title：Pediatric neurology

authors： García-Silva MT,Ribes A,Campos Y,Garavaglia B,Arenas J

更新日期：1997-09-01 00:00:00

abstract：BACKGROUND:Neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders. A better understanding of genotype-phenotype-histology correlation is expected to improve patient care and enhance understanding for phenotypic variability. This meta-analysis studies the correlation of NCL genotypes with cli...

journal_title：Pediatric neurology

authors： Aungaroon G,Hallinan B,Jain P,Horn PS,Spaeth C,Arya R

更新日期：2016-07-01 00:00:00

abstract：:Postoperative seizures are among the more common complications of cardiac surgery in children. These seizures have traditionally been considered benign, transient phenomena with little, if any, prognostic significance. We report 4 infants with early postoperative seizures following cardiac surgery who later developed ...

journal_title：Pediatric neurology

authors： du Plessis AJ,Kramer U,Jonas RA,Wessel DL,Riviello JJ

更新日期：1994-10-01 00:00:00