Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.

Abstract:

:Myoclonus epilepsy with ragged red fibers (MERRF) is one of the major mitochondrial encephalomyopathies. Its main clinical features are myoclonus epilepsy, ataxia, and myopathy with ragged red fibers. Whereas there is a close correlation between MERRF syndrome and the A8344G mutation of mitochondrial DNA, the reverse is not true. In fact, this mutation is also responsible for various other syndromes, such as Leigh syndrome, spinocerebellar degeneration, atypical Charcot-Marie-Tooth disease, and multiple truncal lipomas. We describe a child with the A8344G mutation of mitochondrial DNA and an unusual clinical, neuroradiologic, and biochemical phenotype, characterized by early-onset, nonprogressive cerebellar ataxia, and subclinical myoclonias in association with bilateral putaminal necrosis on magnetic resonance imaging and a reduction in complex V activity. Our case confirms the existence of a relationship between alteration in adenosine triphosphatase activity and basal ganglia involvement. We recommend that the possibility of a mitochondrial pathology should always be taken into consideration in the presence of bilateral symmetric lesions of the basal ganglia, even when the typical clinical picture is lacking. (J Child Neurol 2006;21:79-82).

journal_name

J Child Neurol

authors

Orcesi S,Gorni K,Termine C,Uggetti C,Veggiotti P,Carrara F,Zeviani M,Berardinelli A,Lanzi G

doi

10.1177/08830738060210010901

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

79-82

issue

1

eissn

0883-0738

issn

1708-8283

journal_volume

21

pub_type

杂志文章
  • Cardiac and central nervous system vasculitis in a child with dermatomyositis.

    abstract::Cerebral vasculitis and clinically important myocardial inflammation are rare in juvenile dermatomyositis. We report a previously healthy 6-year-old girl with dermatomyositis who died after a fulminating clinical deterioration. Postmortem examination of the heart revealed characteristic endothelial tubuloreticular agg...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389400900315

    authors: Jimenez C,Rowe PC,Keene D

    更新日期:1994-07-01 00:00:00

  • Cerebrospinal fluid levels of nitric oxide and nitrotyrosine in neonates with mild hypoxic-ischemic encephalopathy.

    abstract::The objective of this study was to determine the role of cerebral nitric oxide and its powerful oxidant peroxynitrite following mild birth asphyxia. The cerebrospinal fluid levels of nitric oxide and 3-nitrotyrosine as a marker for peroxynitrite are measured in neonates with mild hypoxic-ischemic encephalopathy. Based...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738020170111101

    authors: Gücüyener K,Ergenekon E,Demiryürek T,Erbaş D,Oztürk G,Koç E,Atalay Y

    更新日期:2002-11-01 00:00:00

  • Classification of infantile seizures: implications for identification and treatment of inborn errors of metabolism.

    abstract::Metabolic disorders constitute an important cause of neurologic disease, including infantile epilepsy. The inability to characterize seizures and epilepsy syndromes precisely in infants impedes the recognition of features suggestive of specific underlying metabolic and neurodegenerative etiologies. Classification syst...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:

    authors: Nordli DR Jr,De Vivo DC

    更新日期:2002-12-01 00:00:00

  • Electroencephalographic correlate of juvenile Huntington's disease.

    abstract::The spectrum of clinical disease in juvenile Huntington's disease differs from that seen in adults. Younger patients often present with seizures, dystonia and rigidity. The mechanism and type of seizures, timing of onset and electrographic features have not been well characterized in either adults or children. We desc...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:

    authors: Ullrich NJ,Riviello JJ Jr,Darras BT,Donner EJ

    更新日期:2004-07-01 00:00:00

  • Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.

    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

    pub_type: 杂志文章

    doi:10.1177/0883073816630087

    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

  • Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.

    abstract::Five children presented in the first months of life with progressive megalencephaly and leukodystrophy characterized by diffuse swelling of the white matter, cystic cavitations in frontal and temporal lobes, and a slow progressive course contrasting with the intensity of the leukodystrophic process. Four had epilepsy....

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389601100604

    authors: Goutières F,Boulloche J,Bourgeois M,Aicardi J

    更新日期:1996-11-01 00:00:00

  • Right hemisphere dysfunction in subjects with attention-deficit disorder with and without hyperactivity.

    abstract::The attention-deficit disorder, with and without hyperactivity, is associated with defective attention, response inhibition and, in attention-deficit disorder with hyperactivity, with motor restlessness. In adults, inattention, defective response inhibition, and impersistence are more commonly seen in right hemisphere...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389701200207

    authors: García-Sánchez C,Estévez-González A,Suárez-Romero E,Junqué C

    更新日期:1997-02-01 00:00:00

  • Cochlear implantation for children: opening doors to opportunity.

    abstract::Cochlear implantation has altered the life-course of thousands of children who have significant hearing loss. Since the United States Food and Drug Administration approved multichannel cochlear implants for children in 1989, growing numbers of parents are choosing this option for their offspring and seeking opportunit...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073812442590

    authors: Teagle HF

    更新日期:2012-06-01 00:00:00

  • Anencephaly in the United States, 1968-1987: the declining incidence among white infants.

    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

    pub_type: 杂志文章

    doi:10.1177/088307389100600403

    authors: Snyder RD,Fakadej AF,Riggs JE

    更新日期:1991-10-01 00:00:00

  • Vigabatrin in partial seizures in children.

    abstract::Patients with partial seizures aged 1 week to 19 years (n = 175) were included in several prospective vigabatrin studies at the hospital Saint Vincent de Paul. A decrease in seizure frequency of over 50% was achieved in 70% of patients, with 30% becoming seizure free, and only 6% experiencing an increase. Tuberous scl...

    journal_title:Journal of child neurology

    pub_type: 临床试验,杂志文章

    doi:10.1177/088307389701200304

    authors: Nabbout RC,Chiron C,Mumford J,Dumas C,Dulac O

    更新日期:1997-04-01 00:00:00

  • Characteristic brain magnetic resonance imaging (MRI) findings in neonates with tuberous sclerosis complex.

    abstract::We describe the brain magnetic resonance imaging (MRI) findings in eight neonates with tuberous sclerosis complex to further delineate the spectrum of characteristic findings in these patients. In addition to the previously described characteristic brain MRI findings in neonates, which included cortical tuber, transma...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738060210042301

    authors: Arca G,Pacheco E,Alfonso I,Duchowny MS,Melnick SJ

    更新日期:2006-04-01 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

  • Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India.

    abstract::Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency. Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. Leukocyte acid lipa...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073807307104

    authors: Bindu PS,Taly AB,Christopher R,BharatKumar PV,Panda S,Netravathi M,Ravishankar S,Mahadevan A,Yasha TC,Gayathri N

    更新日期:2007-12-01 00:00:00

  • Neuropathological homology in true Galloway-Mowat syndrome.

    abstract::Galloway-Mowat syndrome is a rare condition that is likely hereditary though the underlying offending gene has not been identified, and is characterized by microcephaly and severe nephrotic syndrome culminating in childhood death. Some of the reported cases have abnormalities in neuronal migration and intractable seiz...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073810383982

    authors: Keith J,Fabian VA,Walsh P,Sinniah R,Robitaille Y

    更新日期:2011-04-01 00:00:00

  • The Impact of Sleep on Disability and School Functioning: Results From a Tertiary Pediatric Headache Center.

    abstract::Pediatric headache patients often experience significant sleep disturbance, which may be a risk factor for poor physical, academic, and emotional functioning, including increased anxiety/fear. The current retrospective cohort study of a clinical sample of youth with persistent headache aimed to examine the impact of s...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073819887597

    authors: Clementi MA,Chang YH,Gambhir R,Lebel A,Logan DE

    更新日期:2020-03-01 00:00:00

  • Unilateral schizencephaly and contralateral polymicrogyria associated with umbilical cord mass.

    abstract::We report a 6-month-old boy with diffuse hypertonia and developmental delay who had unilateral separated-lip schizencephaly and contralateral polymicrogyria. The contralateral polymicrogyria was associated with an incomplete clefting in that hemisphere. An umbilical cord hamartoma is presumed to have caused hypoperfus...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738030180031401

    authors: Hahn JS,Lewis AJ

    更新日期:2003-03-01 00:00:00

  • Clinical Features and Neurologic Complications of Children Hospitalized With Chikungunya Virus in Honduras.

    abstract::The first case of Chikungunya virus in Honduras was identified in 2014. The virus has spread widely across Honduras via the Aedes aegypti mosquito, leading to an outbreak of Chikungunya virus (CHIKV) in 2015 that significantly impacted children. A retrospective chart review of 235 children diagnosed with CHIKV and adm...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073817701879

    authors: Samra JA,Hagood NL,Summer A,Medina MT,Holden KR

    更新日期:2017-07-01 00:00:00

  • Precursors of executive function in infants with sickle cell anemia.

    abstract::Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the "A-not-B" and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. Howeve...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073812453495

    authors: Hogan AM,Telfer PT,Kirkham FJ,de Haan M

    更新日期:2013-10-01 00:00:00

  • Study of nerve conduction and late responses in normal Chinese infants, children, and adults.

    abstract::Healthy Chinese individuals (n = 168), aged from 24 hours to 30 years, were studied to establish the following normal values: (1) motor conduction velocity, distal latency, amplitude, and F-wave velocity in the median, ulnar, tibial, and peroneal nerves; (2) H-reflex velocity and latency in the tibial nerve for all su...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389701200102

    authors: Cai F,Zhang J

    更新日期:1997-01-01 00:00:00

  • Pharmacoeconomic considerations in treatment options for acute seizures.

    abstract::Two pharmacoeconomic studies on the treatment of acute seizures have been conducted. In 1991, Kriel and colleagues surveyed parents of children with a history of cluster seizures, prolonged seizures, or status epilepticus who had been instructed in the use of rectal diazepam. A comparison of data before instruction wi...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073898013001081

    authors: Graves N

    更新日期:1998-10-01 00:00:00

  • Morvan syndrome following B-cell lymphoma.

    abstract::Morvan syndrome is a rare autoimmune disease named after the French physician Augustin Marie Morvan. It is characterized by multiple, irregular contractions of the long muscles, weakness, pruritus, hyperhidrosis, insomnia, and delirium. Here, we describe a 17-year-old young man, previously diagnosed with B-cell lympho...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073809356108

    authors: El-Bitar MK,Muwakkit SA,Abboud MR,Sawaya RA,Boustany RM

    更新日期:2010-08-01 00:00:00

  • Angelman syndrome: clinical profile.

    abstract::To further delineate the clinical and developmental features of Angelman syndrome, we collected data through three sources of information: (1) physical examinations; (2) laboratory data and family questionnaire data of affected individuals; and (3) literature review. The questionnaire data describes a generally normal...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,评审

    doi:10.1177/088307389200700307

    authors: Zori RT,Hendrickson J,Woolven S,Whidden EM,Gray B,Williams CA

    更新日期:1992-07-01 00:00:00

  • Athletic participation after acute ischemic childhood stroke: a survey of pediatric stroke experts.

    abstract::Minimal evidence exists about the risk of recurrent childhood acute ischemic stroke in patients subjected to a subsequent head or neck injury. Recurrent or multiple dissections have been demonstrated in select cases. Minor head trauma has also been associated with acute ischemic stroke. The objective of this study was...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073807306271

    authors: Bernard TJ,deVeber GA,Benke TA

    更新日期:2007-08-01 00:00:00

  • Trihexyphenidyl improves motor function in children with dystonic cerebral palsy: a retrospective analysis.

    abstract::There are conflicting reports regarding the efficacy of trihexyphenidyl, an anticholinergic drug, for treatment of dystonia in cerebral palsy. The author hypothesized that trihexyphenidyl may be more effective in specific subgroups and performed a retrospective analysis of 31 children (8.2 ± 5.8 years) with dystonia f...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073810392582

    authors: Ben-Pazi H

    更新日期:2011-07-01 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

  • Brain tumors presenting as a seizure disorder in infants.

    abstract::Seizures occur in 25% to 40% of children with supratentorial tumors and are the presenting complaint in 10% to 15%. However, when divided by age, only 2% of children with seizures as the presenting complaint of brain tumors were less than 1 year of age. Three children, ranging in age from 20 days to 7 months and seen ...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307388700200308

    authors: Rutledge SL,Snead OC 3rd,Morawetz R,Chandra-Sekar B

    更新日期:1987-07-01 00:00:00

  • Systemic and ocular findings in 100 patients with optic nerve hypoplasia.

    abstract::To describe associated ocular, neurologic, and systemic findings in a population of children with optic nerve hypoplasia, a retrospective chart review of 100 patients with optic nerve hypoplasia for the presence of neurologic, radiologic, and endocrine abnormalities was performed. Neuroimaging and endocrine studies we...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/08830738060210111701

    authors: Garcia ML,Ty EB,Taban M,David Rothner A,Rogers D,Traboulsi EI

    更新日期:2006-11-01 00:00:00

  • Neuroplastic Sensorimotor Resting State Network Reorganization in Children With Hemiplegic Cerebral Palsy Treated With Constraint-Induced Movement Therapy.

    abstract::Using resting state functional magnetic resonance imaging (MRI), we aim to understand the neurologic basis of improved function in children with hemiplegic cerebral palsy treated with constraint-induced movement therapy. Eleven children including 4 untreated comparison subjects diagnosed with hemiplegic cerebral palsy...

    journal_title:Journal of child neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1177/0883073815588995

    authors: Manning KY,Menon RS,Gorter JW,Mesterman R,Campbell C,Switzer L,Fehlings D

    更新日期:2016-02-01 00:00:00

  • Clinical features and magnetic resonance imaging in congenital and childhood stroke.

    abstract::Fifty-three (5%) of 1064 consecutively imaged children showed an arterial vascular pattern on magnetic resonance images, accounting for 12% of all abnormal studies. Signal abnormalities on T2-weighted scans persisted years after the clinical stroke occurrence. Ipsilateral atrophy of the pons or midbrain was found in 2...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/088307389100600311

    authors: Smith CD,Baumann RJ

    更新日期:1991-07-01 00:00:00

  • Unilateral palatal and abducens palsy in childhood hepatitis A virus infection.

    abstract::Isolated cranial nerve paresis in childhood hepatitis A virus infection is rare. The authors report an instance of concomitant right-hand side palatal and abducens palsy, developing in the course of an otherwise uncomplicated hepatitis A virus infection in a 5-year-old girl. The neurological complications were transie...

    journal_title:Journal of child neurology

    pub_type: 杂志文章

    doi:10.1177/0883073808323026

    authors: Thapa R,Biswas B,Ghosh A,Mukherjee S

    更新日期:2009-05-01 00:00:00