Imaging through the posterior fontanelle.

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：:Spinal muscular atrophy is one of the most heterogeneous of the single-gene neuromuscular disorders. The broad spectrum of severity, with onset from the prenatal period to adulthood, presents unique challenges in the design and implementation of clinical trials. The clinical classification of subjects into severe (typ...

journal_title：Journal of child neurology

authors： Swoboda KJ,Kissel JT,Crawford TO,Bromberg MB,Acsadi G,D'Anjou G,Krosschell KJ,Reyna SP,Schroth MK,Scott CB,Simard LR

更新日期：2007-08-01 00:00:00

abstract：:Understanding patterns of medical comorbidity in attention-deficit/hyperactivity disorder (ADHD) may lead to better treatment of affected individuals as well as aid in etiologic study of disease. This article provides the first systematic evaluation on the medical comorbidity of ADHD in a nationally representative sam...

journal_title：Journal of child neurology

authors： Jameson ND,Sheppard BK,Lateef TM,Vande Voort JL,He JP,Merikangas KR

更新日期：2016-10-01 00:00:00

abstract：:This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented generalized hypotonia, severe psychomotor development delay, and generalized and partial seizures and was refractory to antiepileptic drugs. After the diagnosis, the patient was put on a ketogenic diet. Six months late...

journal_title：Journal of child neurology

authors： Di Pisa V,Cecconi I,Gentile V,Di Pietro E,Marchiani V,Verrotti A,Franzoni E

更新日期：2012-12-01 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：:The relationship between somatic growth and neurocognitive outcome was studied in a cohort of 136 children with intrauterine growth retardation. The children were followed up from birth to 9 to 10 years of age by annual measurements of growth parameters, neurodevelopmental evaluations, and IQ. The rate of catch-up for...

journal_title：Journal of child neurology

authors： Fattal-Valevski A,Toledano-Alhadef H,Leitner Y,Geva R,Eshel R,Harel S

更新日期：2009-07-01 00:00:00

abstract：:Metachromatic leukodystrophy is a rare disorder of myelin metabolism. This degenerative disorder results from the accumulation of cerebroside sulfatide within the myelin sheath of central and peripheral nervous system, due to deficiency of aryl sulfatase A enzyme. We report a 5-year-old male child, who presented with ...

journal_title：Journal of child neurology

authors： Mahmood A,Chacham S,Reddy UN,Rao JN,Rao SP

更新日期：2015-03-01 00:00:00

abstract：:The acquired alexia with agraphia syndrome is a conspicuous disorder of reading and writing in the absence of significant other language impairments that has mainly been recorded in adults. Pure cases are rare, with most patients displaying mild aphasic deficits. In children, acquired reading and writing disorders are...

journal_title：Journal of child neurology

authors： Paquier PF,De Smet HJ,Mariën P,Poznanski N,Van Bogaert P

更新日期：2006-04-01 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：:We report a divergent ependymal tumor of the posterior fossa (ependymoblastoma/anaplastic ependymoma) observed in an 8-year-old boy. The tumor showed the histological pattern typical of an ependymoblastoma (tubular-papillary fetaloid architecture with stratification of the tumor cells) next to areas in which findings ...

journal_title：Journal of child neurology

authors： Ortiz J,Otero A,Bengoechea O,Gonçalves J,Sousa P,Figols J,Bullón A

更新日期：2008-09-01 00:00:00

abstract：:Managing severe epilepsy syndromes of early childhood is challenging as the seizures are typically resistant to treatment and may cause disabling mental and behavioral problems in later life. A comprehensive treatment plan includes pharmacologic, nonpharmacologic, and surgical options. This article reviews clinical st...

journal_title：Journal of child neurology

authors： Wheless JW

更新日期：2009-08-01 00:00:00

abstract：:The objective of this study was to investigate the incidence of acute flaccid paralysis in the pediatric population of Honduras over an 11-year period, determine what percentage of acute flaccid paralysis was Guillain-Barré syndrome, and identify the epidemiologic features of Guillain-Barré syndrome. There were 546 ch...

journal_title：Journal of child neurology

authors： Molinero MR,Varon D,Holden KR,Sladky JT,Molina IB,Cleaves F

更新日期：2003-11-01 00:00:00

abstract：OBJECTIVE:To evaluate the safety and tolerability of adjunctive eslicarbazepine acetate (ESL) in pediatric patients (aged 4-17 years) with refractory focal seizures. METHODS:Pooled safety data from patients aged 4-17 years in Study 208 (NCT01527513) and Study 305 (NCT00988156) were analyzed. Both were randomized, doub...

journal_title：Journal of child neurology

authors： Mintz M,Pina-Garza JE,Wolf SM,McGoldrick PE,Józwiak S,Grinnell T,Cantu D,Costa R,Moreira J,Li Y,Blum D

更新日期：2020-03-01 00:00:00

abstract：:Football injuries account for more concussions than any other sport in North America. A 1977 survey of high school football players in Minnesota found that 19% of players reported at least one concussion (characterized by loss of awareness) during a season. These results have not been confirmed in subsequent studies. ...

journal_title：Journal of child neurology

authors： Langburt W,Cohen B,Akhthar N,O'Neill K,Lee JC

更新日期：2001-02-01 00:00:00

abstract：:Vigabatrin is an antiepileptic drug that results in higher gamma-aminobutyrate levels in the brain and retina. Vigabatrin-induced visual field defects are usually asymptomatic and only detectable by perimetry. Further, perimetry requires good cooperation, and children aged under 10 years cannot do it. Electroretinogra...

journal_title：Journal of child neurology

authors： Bakhshandeh Bali MK,Otaghsara SM,Soltansanjari M,Sadighi N,Nasehi MM,Ashrafi MR,Karimzadeh P,Taghdiri MM,Ghofrani M

更新日期：2014-06-01 00:00:00

abstract：:We describe a 13-year-old female with abrupt onset urinary retention progressing rapidly to pandysautonomia with symptoms of postural orthostatic tachycardia syndrome, gastroparesis, anhidrosis, pupillary dysfunction, and abdominal pain. Pandysautonomia has been reported frequently in adults, but is less commonly desc...

journal_title：Journal of child neurology

authors： Clark MB,Davis T

更新日期：2013-12-01 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：:Childhood leukoencephalopathies are a broad class of diseases, which are extremely rare. The treatment and classification of these disorders are both challenging. Nearly half of children presenting with a leukoencephalopathy remain without a specific diagnosis. Leukoencephalopathy with thalamus and brain stem involvem...

journal_title：Journal of child neurology

authors： Taskin BD,Karalok ZS,Gurkas E,Aydin K,Aydogmus U,Ceylaner S,Karaer K,Yilmaz C,Pearl PL

更新日期：2016-06-01 00:00:00

abstract：:Neurofibromatosis 1 is an autosomal dominant, multisystem disorder with myriad clinical manifestations. Between 1991 and 1998, 495 adults and children were diagnosed with neurofibromatosis 1 at a specialized neurogenetics clinic in Sydney, Australia. This review establishes the prevalence of the clinical manifestation...

journal_title：Journal of child neurology

authors： Young H,Hyman S,North K

更新日期：2002-08-01 00:00:00

abstract：:Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. The infantile form is severe: the main clinical findings are neurologic signs, associated with hematological signs and bone alterati...

journal_title：Journal of child neurology

authors： Cerbo RM,Cabano R,Lombardi G,Bollani L,Colombo R,Stronati M

更新日期：2010-03-01 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：: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：:In industrialized nations with widespread immunization programs, Guillain-Barré syndrome is the most common cause of acute paralytic illness in children and adults. The incidence of the disease has been estimated to range from 0.5 to 1.5 in 100,000 in individuals less than 18 years of age. Approximately 15% of childre...

journal_title：Journal of child neurology

authors： Sladky JT

更新日期：2004-03-01 00:00:00

abstract：:The clinical label attention deficit hyperactivity disorder (ADHD) suggests that this syndrome is a disorder of attention. However, the presumed attentional deficits have not been linked either to specific cognitive operations or to specific neural systems. To provide this link, theories of the cognitive anatomy of at...

journal_title：Journal of child neurology

authors： Swanson JM,Posner M,Potkin S,Bonforte S,Youpa D,Fiore C,Cantwell D,Crinella F

更新日期：1991-01-01 00:00:00

abstract：:This report describes the brain autopsy of a boy who at age 4(1/2) years experienced an episode of fulminant Haemophilus influenzae type b bacterial meningitis, resulting in massive brain destruction and the clinical signs of brain death. However, medical intervention maintained him for an additional two decades. Subs...

journal_title：Journal of child neurology

authors： Repertinger S,Fitzgibbons WP,Omojola MF,Brumback RA

更新日期：2006-07-01 00:00:00

abstract：:Using a questionnaire-based study, we assessed the parent-reported prevalence of attention-deficit hyperactivity disorders (ADHDs), autism spectrum disorders, and obsessive-compulsive disorders in a group of 351 males with Duchenne muscular dystrophy. Of the 351 males with Duchenne muscular dystrophy, 11.7% were repor...

journal_title：Journal of child neurology

authors： Hendriksen JG,Vles JS

更新日期：2008-05-01 00:00:00

abstract：:Donnai-Barrow syndrome is a rare autosomal recessive disorder first described in 1993. This report presents ocular manifestations of this rare autosomal recessive disorder through 2 additional cases. Ocular features include hypertelorism, down-slanting palpebral fissures, iris coloboma, high myopia, and retinal detach...

journal_title：Journal of child neurology

authors： Patel N,Hejkal T,Katz A,Margalit E

更新日期：2007-04-01 00:00:00

abstract：:Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The au...

journal_title：Journal of child neurology

authors： Davis K,Holden KR,S'Aulis D,Amador C,Matheus MG,Rizzo WB

更新日期：2013-10-01 00:00:00

abstract：:The purpose of this study was to determine the locations and characterize the types of brain abnormalities noted on brain magnetic resonance imaging in patients with probable and definite neurofibromatosis type 1. Patients with definite neurofibromatosis type 1 (n = 17) were studied when clinically indicated, and pati...

journal_title：Journal of child neurology

authors： DiMario FJ Jr,Ramsby G,Greenstein R,Langshur S,Dunham B

更新日期：1993-01-01 00:00:00

abstract：:Imaging findings of brain damage due to neonatal hypoglycemia are known; however, the effect of childhood hypoglycemia on the brain has not been described well. The authors present the case of a 6-year-old girl who had seizures secondary to hypoglycemia followed up for 1 year as epilepsy. The patient had experienced a...

journal_title：Journal of child neurology

authors： Kara C,Aydin OF,Aslan B,Gürer YK

更新日期：2007-02-01 00:00:00