Childhood-onset CADASIL: clinical, imaging, and neurocognitive features.

Abstract:

:CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a progressive neurodegenerative condition, associated with mutations in the notch3 gene. Symptoms include migraine with aura, mood disorders, progressive cognitive decline, subcortical ischemic strokes, dementia, and premature death. We present an 8-year-old boy with attention and behavioral difficulties, as well as a family history of the condition. Magnetic resonance imaging revealed subcortical foci of increased T2 hyperintensity, and sequencing of the notch3 gene revealed 1 previously reported mutation and 1 novel sequence variant. Neurocognitive assessment revealed deficits in several aspects of executive functioning and in verbal learning. To our knowledge, this is the youngest reported patient with this condition, and it prompts reconsideration of CADASIL as an adult-onset disease.

journal_name

J Child Neurol

authors

Hartley J,Westmacott R,Decker J,Shroff M,Yoon G

doi

10.1177/0883073810361382

subject

Has Abstract

pub_date

2010-05-01 00:00:00

pages

623-7

issue

5

eissn

0883-0738

issn

1708-8283

pii

0883073810361382

journal_volume

25

pub_type

杂志文章
  • Building a division of child neurology: a tribute to Michael J. Painter, MD.

    abstract::In this era of changing priorities, regulations, and resources, it is useful to look both back and forward at the building of a division of child neurology in the context of the emergence of child neurology as a nationally and internationally recognized distinct subspecialty of both pediatrics and neurology. Both Pitt...

    journal_title:Journal of child neurology

    pub_type: 传,历史文章

    doi:10.1177/08830738030180020401

    authors: Schor NF,Crumrine PK

    更新日期:2003-02-01 00:00:00

  • Impact of bacille Calmette-Guérin vaccination on neuroradiological manifestations of pediatric tuberculous meningitis.

    abstract::The authors conducted this study to identify whether bacille Calmette-Guérin (BCG) vaccination leads to an altered spectrum of neuroimaging findings outcome in pediatric patients with tuberculous meningitis. This retrospective study was conducted through chart review and review of computed tomography (CT) scans and ma...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073809340921

    authors: Wasay M,Ajmal S,Taqui AM,Uddin N,Azam I,Husen Y,Nizami SQ

    更新日期:2010-05-01 00:00:00

  • Are We Permitting Pediatric Athletes With Sports-Related Concussion to Return to Play Too Soon After Concussion?

    abstract::Current guidelines permitting return to play for athletes who have sustained a concussion rely on resolution of cognitive and physical symptoms. Evolving evidence suggest that vascular, radiologic and cerebral metabolic abnormalities persist in some athletes beyond the period of clinical recovery. This commentary addr...

    journal_title:Journal of child neurology

    pub_type: 社论

    doi:10.1177/0883073818790169

    authors: McAbee GN

    更新日期:2018-10-01 00:00:00

  • Child neurologists as health care surrogate for imperiled children.

    abstract::We explored child neurologists' attitudes toward taking on the role of health care surrogate for terminally ill children. Physician members of the Child Neurology Society were sent a 16-question survey via email. Of the assumed 1050 recipients, 116 (11%) answered the questionnaire. Most individuals who have been in pr...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073810380048

    authors: Weisleder P,Perkins E,McLaughlin A

    更新日期:2011-03-01 00:00:00

  • Maternal methylenetetrahydrofolate reductase (MTHFR) homozygosity and neonatal outcome: follow-up of 42 pregnancies at risk.

    abstract::From February 2006 to March 2008, 42 pregnant women homozygous for the 677CT-methylenetetrahydrofolate reductase (MTHFR) allele were recruited in our obstetrics service for pregnancy at risk. All had antithrombotic prophylaxis with low-dose aspirin and/or low-molecular-weight heparin, supplemented with folic acid. In ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073809344622

    authors: Pogliani L,Muggiasca L,Arrigoni L,Rossi E,Zuccotti G

    更新日期:2010-06-01 00:00:00

  • Dietary intake and blood folate levels in Honduran women of childbearing age.

    abstract::Neural tube defects are common birth defects, the frequency of which appears to be reduced by maternal supplementation and/or fortification of folic acid. Latin Americans have a high incidence of neural tube defects. We surveyed the dietary intake of Honduran women of childbearing age using a 24-hour dietary recall qu...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307380201700506

    authors: Holden KR,Collins JS,Greene JF,Hinkle S,Nave AF,Portillo JM,Page GP,Stevenson RE,Honduran Neural Tube Defect Project Team.

    更新日期:2002-05-01 00:00:00

  • Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.

    abstract::High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopm...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:10.1177/0883073819840449

    authors: MacLennan AH,Lewis S,Moreno-De-Luca A,Fahey M,Leventer RJ,McIntyre S,Ben-Pazi H,Corbett M,Wang X,Baynam G,Fehlings D,Kurian MA,Zhu C,Himmelmann K,Smithers-Sheedy H,Wilson Y,Ocaña CS,van Eyk C,Badawi N,Wintle RF,Ja

    更新日期:2019-07-01 00:00:00

  • Neuropathologic substrate of cerebral palsy.

    abstract::Animal models have assisted in understanding the mechanisms of brain injury underlying cerebral palsy. Nevertheless, no such models replicate every aspect of the human disease. This review summarizes the classic and more recent studies of the neuropathology of human perinatal brain injury most commonly associated with...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:10.1177/08830738050200120301

    authors: Folkerth RD

    更新日期:2005-12-01 00:00:00

  • Scaled Vibratory Feedback Can Bias Muscle Use in Children With Dystonia During a Redundant, 1-Dimensional Myocontrol Task.

    abstract::Vibratory feedback can be a useful tool for rehabilitation. We examined its use in children with dystonia to understand how it affects muscle activity in a population that does not respond well to standard rehabilitation. We predicted scaled vibration (ie, vibration that was directly or inversely proportional to muscl...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073816671830

    authors: Liyanagamage SA,Bertucco M,Bhanpuri NH,Sanger TD

    更新日期:2017-02-01 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

  • Ocular manifestations of Donnai-Barrow syndrome.

    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

    pub_type: 杂志文章

    doi:10.1177/0883073807301933

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

    更新日期:2007-04-01 00:00:00

  • Managing severe epilepsy syndromes of early childhood.

    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

    pub_type: 杂志文章,评审

    doi:10.1177/0883073809338153

    authors: Wheless JW

    更新日期:2009-08-01 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

  • Anterior spinal artery syndrome in an adolescent with protein S deficiency.

    abstract::The diagnosis of anterior spinal artery syndrome can be made with high accuracy by thorough clinical examination in combination with typical magnetic resonance imaging findings. Sudden onset of tetra- or paraparesis and dissociated sensory loss with bladder dysfunction are the leading clinical signs. We discuss clinic...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307380101600213

    authors: Ramelli GP,Wyttenbach R,von der Weid N,Ozdoba C

    更新日期:2001-02-01 00:00:00

  • Factors predictive of outcome in childhood epilepsy.

    abstract::To identify early predictive factors of outcome in childhood epilepsy, the case records of all children with new-onset epilepsy presenting to a single neurology practice over a 10-year interval were reviewed. Only children with more than 2 years of follow-up were included. Cox regression analysis was used to identify ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738050200110701

    authors: Oskoui M,Webster RI,Zhang X,Shevell MI

    更新日期:2005-11-01 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

  • Spinal muscular atrophy: new thoughts on the pathogenesis and classification schema.

    abstract::We have established the first prospective, collaborative study of spinal muscular atrophy, the second most common neuromuscular disease of childhood. One hundred and forty-one patients have been evaluated on at least four occasions over a 3-year period. The patients have been grouped by age of onset, as well as by fun...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1177/088307389200700403

    authors: Russman BS,Iannacone ST,Buncher CR,Samaha FJ,White M,Perkins B,Zimmerman L,Smith C,Burhans K,Barker L

    更新日期:1992-10-01 00:00:00

  • Pica and the elephant's ear.

    abstract::This is a case report of an otherwise healthy 2-year-old boy with a history of pica, associated with iron deficiency anemia. This boy was referred to our department for a neurologic evaluation because of an acute episode of sialorrhea, difficulty in speaking, dysphagia, and repeated swallowing movements. An uncertain ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738020170111705

    authors: Mihailidou H,Galanakis E,Paspalaki P,Borgia P,Mantzouranis E

    更新日期:2002-11-01 00:00:00

  • Prevention of Traumatic Brain Injury in Youth and Adolescents.

    abstract::The goal of this project was to promote bicycle helmet use via an inpatient educational program. We hypothesized that this program would increase bicycle helmet use. One hundred twenty inpatients with history of regular (>1 time per week) bicycle riding (mean age 10.0 ± 3.6 years; 67 males, 53 females; 57 whites, 59 b...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073812464272

    authors: Barnes VA,Maria BL,Caldwell AL,Hopkins I

    更新日期:2013-11-01 00:00:00

  • Cerebellar Volume in Children With Attention-Deficit Hyperactivity Disorder (ADHD).

    abstract::Attention Deficit Hyperactivity Disorder (ADHD) is associated with altered cerebellar volume and cerebellum is associated with cognitive performance. However there are mixed results regarding the cerebellar volume in young patients with ADHD. To clarify the size and direction of this effect, we conducted the analysis ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1177/0883073816678550

    authors: Wyciszkiewicz A,Pawlak MA,Krawiec K

    更新日期:2017-02-01 00:00:00

  • Trends with corticosteroid use in males with Duchenne muscular dystrophy born 1982-2001.

    abstract::This study examines trends in corticosteroid use for males with Duchenne muscular dystrophy by birth year, race/ethnicity, and knowledge of Duchenne muscular dystrophy family history. Firstborn males (n = 521) selected from a population-based surveillance system of Duchenne muscular dystrophy were analyzed using Kapla...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073813517263

    authors: Fox DJ,Kumar A,West NA,DiRienzo AG,James KA,Oleszek J,Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).

    更新日期:2015-01-01 00:00:00

  • Goniometer Measurements of Oral Labial Angle and Evaluation of Oral Motor Reflexes in Preterm Infants: Comparison to Findings in Term Infants.

    abstract::To date, no study has evaluated changes in oral labial angle as preterm infants mature. The main purpose of this study was to document goniometer measurements of the labial angle of the mouth in preterm infants, to assess changes with development, to compare to findings in healthy term infants, and also evaluate oral ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073815575368

    authors: Ince DA,Tugcu AU,Ecevit A,Ciyiltepe M,Kurt A,Abbasoğlu A,Tekindal MA,Tarcan A

    更新日期:2015-10-01 00:00:00

  • Vertebrobasilar occlusion complicating nonpenetrating craniocervical trauma in a child.

    abstract::We report a juvenile patient who developed vertebrobasilar occlusion following nonpenetrating head and neck trauma, with complete recovery. The patient presented with transient signs of brain-stem dysfunction that were secondary to embolization and/or extension of a thrombus. He was treated with anticoagulants. We hav...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:10.1177/088307389000500314

    authors: Pitter JH,French JH,PeBenito R,Hotson GC

    更新日期:1990-07-01 00:00:00

  • Role of methylenetetrahydrofolate reductase gene (MTHFR) 677C>T polymorphism in pediatric cerebrovascular disorders.

    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

    pub_type: 杂志文章

    doi:10.1177/0883073810381446

    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

  • A case of giant intracranial tuberculoma in an infant: clinical and radiologic pitfalls.

    abstract::Intracranial tuberculoma in infants are a rare occurrence. We report a 7-month-old male infant presenting to our tertiary care referral center with complaints of global developmental delay and right hemiparesis for 3 months. Radiologic imaging was suggestive of large left frontoinsular space-occupying lesion with init...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073814535487

    authors: Raheja A,Sinha S,Sable MN,Sharma MC,Sharma BS

    更新日期:2015-03-01 00:00:00

  • Confounding Brain Stem Function During Pediatric Brain Death Determination: Two Case Reports.

    abstract::A patient who has been declared brain dead is considered to be both legally and clinically dead. However, we report 2 pediatric cases in which the patients demonstrated clinical signs of brain stem function that are not recognized or tested in current Canadian or US guidelines. ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073817701048

    authors: Hansen G,Joffe AR

    更新日期:2017-06-01 00:00:00

  • Aiming at neuroblastoma and hitting other worthy targets.

    abstract::Neuroblastoma is, at once, the most common and deadly extracranial solid tumor of childhood. Efforts aimed at targeting the neural characteristics of these tumors have taught us much about neural crest cell biology, apoptosis induction in the nervous system, and neurotrophin receptor signaling and intracellular proces...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:10.1177/0883073813483173

    authors: Schor NF

    更新日期:2013-06-01 00:00:00

  • Electron microscopic examination of skin biopsy as a cost-effective tool in the diagnosis of lysosomal storage diseases.

    abstract::In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin biopsies as a screening tool. The skin biopsy was very specific in establishing the diagnosis in only two disorders, namely neuronal ceroid lipofuscinosis and muc...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389601100408

    authors: Prasad A,Kaye EM,Alroy J

    更新日期:1996-07-01 00:00:00

  • Bilateral demyelinating tumefactive lesions in three children with hemiparesis.

    abstract::We present the results from the evaluations of three children ages of 2, 7, and 11 years with hemiparesis and multiple white-matter lesions on magnetic resonance images (MRIs). The initial symptoms were mainly acute/subacute hemiparesis in all and headache/vomiting in one of them. Before admission, one of them had a h...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307380201700901

    authors: Yapici Z,Eraksoy M

    更新日期:2002-09-01 00:00:00

  • Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.

    abstract::Aminoacyl-transfer ribonucleic acid (RNA) synthetases (ARSs) are a group of enzymes required for the first step of protein translation. Each aminoacyl-transfer RNA synthetase links a specific amino acid to its corresponding transfer RNA component within the cytoplasm, mitochondria, or both. Mutations in ARSs have been...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073814553272

    authors: McMillan HJ,Humphreys P,Smith A,Schwartzentruber J,Chakraborty P,Bulman DE,Beaulieu CL,FORGE Canada Consortium.,Majewski J,Boycott KM,Geraghty MT

    更新日期:2015-07-01 00:00:00