Neurofibromatosis type 1: magnetic resonance imaging findings.

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 patients with probable neurofibromatosis type 1 (n = 9) were studied to evaluate for asymptomatic optic pathway glioma. Of the 26 patients evaluated, 14 (53%) had high-intensity signal abnormalities and 11 (42%) had significant structural abnormalities. Subsequent clinical follow-up has confirmed conversion to a definite neurofibromatosis type 1 diagnosis in three of the four cases of probable neurofibromatosis type 1 who had high-intensity signal abnormalities. The most common locations of high-intensity signal lesions were in the globus pallidus of the basal ganglia and cerebellar white matter. Tortuous or thickened optic nerves and/or optic chiasm were seen in eight cases. Brain magnetic resonance imaging scans frequently reveal high-intensity signal lesions and structural abnormalities in selected patients with both probable and definite neurofibromatosis type 1. These findings may allow for a definitive diagnosis in clinically probable cases.

journal_name

J Child Neurol

authors

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

doi

10.1177/088307389300800105

subject

Has Abstract

pub_date

1993-01-01 00:00:00

pages

32-9

issue

1

eissn

0883-0738

issn

1708-8283

journal_volume

8

pub_type

杂志文章
  • Canadian adolescents with migraine: impaired health-related quality of life.

    abstract::The objective of this study was to determine the impact of migraine headaches on health-related quality of life among Canadian adolescents. The Canadian Community Health Survey (CCHS) collects information related to health status, health care utilization, and health determinants for the Canadian population. Analysis w...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073807307987

    authors: Brna P,Gordon K,Dooley J

    更新日期:2008-01-01 00:00:00

  • Blindness from late presenting undiagnosed pancraniosynostosis mimicking pseudotumor cerebri.

    abstract::We report the unique case of late-onset pancraniosynostosis presenting with rapid visual deterioration, without other symptoms of increased intracranial pressure. A 10-year-old girl had episodes of blurry vision for 1 month. Magnetic resonance imaging (MRI) demonstrated a borderline Chiari I malformation. Ophthalmolog...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073813495307

    authors: Bonfield CM,Tamber MS,Losee JE

    更新日期:2014-08-01 00:00:00

  • Risk factors and imaging characteristics of childhood stroke in china.

    abstract::There are scarce reports of childhood stroke from China. Our objective was to describe the clinical spectrum, risk factors, and imaging characteristics of childhood stroke in China. Using a hospital discharge database, children with stroke who were first admitted from 2002 to 2011 were retrospectively enrolled. We ide...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073814538667

    authors: Deng Y,Wang Y,Yang W,Yu Y,Xu J,Wang Y,Gao B

    更新日期:2015-03-01 00:00:00

  • Aicardi-Goutieres syndrome in siblings.

    abstract::Two siblings with familial encephalopathy, calcification of the basal ganglia, and cerebrospinal fluid lymphocytosis, constituting the triad of Aicardi-Goutieres syndrome, are reported. This syndrome resembles congenital intrauterine infections, which must be meticulously excluded. Aicardi-Goutieres syndrome is extrem...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307380101601009

    authors: Koul R,Chacko A,Joshi S,Sankhla D

    更新日期:2001-10-01 00:00:00

  • Transient neonatal myasthenia gravis.

    abstract::Transient neonatal myasthenia gravis is a postsynaptic neuromuscular transmission defect occurring in 21% of infants born to women with active (and, less commonly, in remission) acquired myasthenia gravis. Although passive-transfer acetylcholine receptor (AChR) antibodies are found in the majority of these newborns, t...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:10.1177/088307389200700202

    authors: Papazian O

    更新日期:1992-04-01 00:00:00

  • An overview of learning disabilities: psychoeducational perspectives.

    abstract::In general, people with learning disabilities are a heterogeneous population that require a multidisciplinary evaluation and careful, well-planned intervention. Despite this heterogeneity, patterns of problems often co-occur. Therefore, diagnosticians and educators should look beyond single areas of achievement such a...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:10.1177/08830738950100S102

    authors: Johnson DJ

    更新日期:1995-01-01 00:00:00

  • Sphenoid sinusitis masquerading as migraine headaches in children.

    abstract::The sphenoid sinus is often referred to as the "neglected sinus." Isolated sphenoid sinusitis is a rare disease with potentially devastating complications. It occurs at an incidence of about 2.7% of all sinus infections. Although headache is the most common presenting symptom, there is no typical headache pattern. Thr...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307380101601203

    authors: Ng YT,Butler IJ

    更新日期:2001-12-01 00:00:00

  • Cerebral aneurysms in a child with acquired immune deficiency syndrome during rapid immune reconstitution.

    abstract::A 12-year-old boy with perinatally acquired human immunodeficiency virus infection an d Centers for Disease Control and Prevention class C3 disease presented with acute onset of confusion and a right-sided movement disorder 5 months after beginning a new antiretroviral regimen. His CD4 count had been below 50 cells/mi...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:10.1177/088307380201700613

    authors: Bonkowsky JL,Christenson JC,Nixon GW,Pavia AT

    更新日期:2002-06-01 00:00:00

  • Autonomic dysfunction in childhood Guillain-Barré syndrome.

    abstract::This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. Aft...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073811420872

    authors: Dimario FJ Jr,Edwards C

    更新日期:2012-05-01 00:00:00

  • Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter.

    abstract::Recently, a new disease entity has been defined: the disease of vanishing white matter. This leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or biochemical marker is known. We studied cerebrospinal fluid amino acids in five patients with the disease and found a consistent, moderate elevati...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389901401108

    authors: van der Knaap MS,Wevers RA,Kure S,Gabreëls FJ,Verhoeven NM,van Raaij-Selten B,Jaeken J

    更新日期:1999-11-01 00:00:00

  • A case of neurobrucellosis presenting with isolated intracranial hypertension.

    abstract::Despite being a treatable and preventable zoonosis, brucellosis is still endemic in certain areas of the world. Nervous system involvement is a rare but an important complication of brucellosis in childhood. Neurobrucellosis should be taken into consideration in the differential diagnosis of any kind of neurological s...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073811402205

    authors: Yilmaz S,Serdaroglu G,Gokben S,Tekgul H

    更新日期:2011-10-01 00:00:00

  • Convection-enhanced delivery for the treatment of pediatric neurologic disorders.

    abstract::Direct perfusion of specific regions of the central nervous system by convection-enhanced delivery is becoming more widely used for the delivery of compounds in the research and treatment of various neural disorders. In contrast to other currently available central nervous system delivery techniques, convection-enhanc...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:10.1177/0883073808321064

    authors: Song DK,Lonser RR

    更新日期:2008-10-01 00:00:00

  • Epidemiology of childhood Guillain-Barré syndrome as a cause of acute flaccid paralysis in Honduras: 1989-1999.

    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

    pub_type: 杂志文章

    doi:10.1177/08830738030180110801

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

    更新日期:2003-11-01 00:00:00

  • Reversible posterior leukoencephalopathy and Adie's pupil after measles vaccination.

    abstract::Reversible posterior leukoencephalopathy syndrome is an increasingly recognized disorder with typical radiologic findings of bilateral gray- and white-matter abnormalities in the posterior regions of the cerebral hemispheres. The majority of patients with reversible posterior leukoencephalopathy syndrome are adults, a...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738060210060901

    authors: Aydin K,Elmas S,Guzes EA

    更新日期:2006-06-01 00:00:00

  • Patterns of cerebral arterial injury in children with neurological disabilities.

    abstract::We reviewed the data from 215 consecutively imaged children who were referred because of neurologic disease. We specifically looked for evidence of cerebral arterial infarction in the form of focal brain damage in an arterial vascular distribution. Twenty-eight showed an arterial infarction pattern. All the major cere...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307388700200413

    authors: Baumann RJ,Carr WA,Shuman RM

    更新日期:1987-10-01 00:00:00

  • Paroxysmal tonic upgaze and partial tetrasomy of chromosome 15: a novel genetic association.

    abstract::Paroxysmal tonic upgaze of childhood is an eye movement abnormality characterized by periodic episodes of conjugate upward eye deviation. Although the spectrum of paroxysmal tonic upgaze has broadened considerably, a specific pathophysiology has not been elucidated. We report an infant with paroxysmal tonic upgaze who...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738050200021601

    authors: Joseph K,Avallone J,Difazio M

    更新日期:2005-02-01 00:00:00

  • Neonate with spinal hypoplasia on T12 and a localized vertebral malformation on L4.

    abstract::We report a case of a neonate with sectional narrowing of the spinal cord on the level of T12 to L2 and a deformed vertebral body on a different level, L4. In previously described cases of sectional spinal dysgenesis, the vertebral and spinal cord malformations are usually found on the same level. Our case may represe...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307380101600819

    authors: Weber A,Maier RF,Felderhoff-Mueser U,Lehmann R,Stöver B,Obladen M

    更新日期:2001-08-01 00:00:00

  • Pilot study on executive function and adaptive skills in adolescents and young adults with mitochondrial disease.

    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

    pub_type: 杂志文章

    doi:10.1177/0883073812442589

    authors: Schreiber H

    更新日期:2012-12-01 00:00:00

  • Acute Flaccid Myelitis: A Single Pediatric Center Experience From 2014 to 2019.

    abstract:BACKGROUND:Acute flaccid myelitis has emerged as the leading cause of acute flaccid paralysis in children. Acute flaccid myelitis leads to significant physical disability; hence, objective outcome measures to study disease severity and progression are desirable. In addition, nerve transfer to improve motor function in ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073820939392

    authors: Patel R,Gombolay GY,Peljovich AE,Conklin J,Blackwell LS,Howarth R,Wolf DS,Upadhyayula SR,Verma S

    更新日期:2020-11-01 00:00:00

  • Computerized Cognitive Testing in the Management of Youth Sports-Related Concussion.

    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

    pub_type: 杂志文章,评审

    doi:10.1177/0883073814559645

    authors: De Marco AP,Broshek DK

    更新日期:2016-01-01 00:00:00

  • Neuromotor functioning in children with Tourette syndrome with and without attention deficit hyperactivity disorder.

    abstract::Neuromotor function was assessed in 94 children of normal intelligence with Tourette syndrome, Tourette syndrome and attention-deficit hyperactivity disorder (ADHD), or ADHD only, using the Physical and Neurological Examination of Subtle Signs (PANESS). Time to complete six motor movements was analyzed separately by s...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389701200705

    authors: Schuerholz LJ,Cutting L,Mazzocco MM,Singer HS,Denckla MB

    更新日期:1997-10-01 00:00:00

  • Experience with hyperphenylalaninemia in a developing country: unusual clinical manifestations and a novel gene mutation.

    abstract::We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin metabolism defects. The majority of cases were clinically diagnos...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073810375116

    authors: Karam PE,Daher RT,Moller LB,Mikati MA

    更新日期:2011-02-01 00:00:00

  • The Oklahoma City bombing: a personal account.

    abstract::On April 19, 1995, Oklahoma City (and the United States) lost its innocence. Almost all Oklahomans can relate exactly what they were doing either at 9:02 AM that day or when they first learned of the bombing. Of course, the whole world watched the events unfold through around-the-clock television coverage. One of the ...

    journal_title:Journal of child neurology

    pub_type: 传,历史文章,杂志文章

    doi:10.1177/088307389501000510

    authors: Spengler C

    更新日期:1995-09-01 00:00:00

  • Myalgia and cramps: dystrophinopathy with wide-ranging laboratory findings.

    abstract::We present 12 cases of males with myalgia and cramps and a normal muscle strength examination. All the patients had muscle dystrophin values consistent with Becker muscular dystrophy. Five of the patients had a normal electromyogram, and five had normal light microscopic muscle biopsy results. Of particular note, four...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389601100105

    authors: Samaha FJ,Quinlan JG

    更新日期:1996-01-01 00:00:00

  • Cardiac transplantation in Friedreich ataxia.

    abstract::In this article, we describe a 14-year-old boy with a confirmed diagnosis of Friedreich ataxia who underwent cardiac transplantation for left ventricular failure secondary to dilated cardiomyopathy with restrictive physiology. His neurological status prior to transplantation reflected early signs of neurological disea...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:10.1177/0883073812448229

    authors: Yoon G,Soman T,Wilson J,George K,Mital S,Dipchand AI,McCabe J,Logan W,Kantor P

    更新日期:2012-09-01 00:00:00

  • Effects of youth football on selected clinical measures of neurologic function: a pilot study.

    abstract::We assessed 10 youth football players (13.4 ± 0.7 y) immediately before and after their season to explore the effects of football participation on selected clinical measures of neurologic function. Postseason postural stability in a closed-eye condition was improved compared to preseason (P = .017). Neurocognitive tes...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073813509887

    authors: Munce TA,Dorman JC,Odney TO,Thompson PA,Valentine VD,Bergeron MF

    更新日期:2014-12-01 00:00:00

  • Secondary erythromelalgia successfully treated with intravenous immunoglobulin.

    abstract::Erythromelalgia is a rare condition characterized by episodic painful erythema and warmth often affecting, but not limited to, the distal extremities. This condition is notoriously difficult to treat. We report a young female patient with seronegative polyarthritis who presented with a 6-year history of recurrent bout...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073811427784

    authors: Moody S,Pacheco S,Butler IJ,Koenig MK

    更新日期:2012-07-01 00:00:00

  • Effects of Developmental Age on Symptom Reporting and Neurocognitive Performance in Youth After Sports-Related Concussion Compared to Control Athletes.

    abstract::There is increased necessity to focus research on school-aged athletes with sports-related concussion (SRC). This study assessed differences in symptom reporting and neurocognitive performance in youth athletes who sustained a sports-related concussion. A total of 1345 concussed and 3529 nonconcussed athletes (ages 8-...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073818766815

    authors: Murdaugh DL,Ono KE,Morris SO,Burns TG

    更新日期:2018-06-01 00:00:00

  • Diffusion-weighted imaging in neonatal cerebral infarction: clinical utility and follow-up.

    abstract::We describe the clinical utility of echo-planar diffusion-weighted imaging in neonatal cerebral infarction. Eight full-term neonates aged 1 to 8 days referred for neonatal seizures were studied. Patients were followed for a mean of 17 months with detailed neurologic examinations at regular intervals. Head computed tom...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307380001500905

    authors: Krishnamoorthy KS,Soman TB,Takeoka M,Schaefer PW

    更新日期:2000-09-01 00:00:00

  • Hypnagogic behavior disorder: complex motor behaviors during wake-sleep transitions in 2 young children.

    abstract::A nondescribed behavioral disorder was observed during wake-sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic-and occasionally hypnopompic-periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which co...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073808314964

    authors: Pareja JA,Cuadrado ML,García-Morales I,Gil-Nagel A,Franch O

    更新日期:2008-08-01 00:00:00