Pediatric Neurology
Volume 34, Issue 3 , Pages 235-238 , March 2006

An Infant With a Mitochondrial A3243G Mutation Demonstrating the MELAS Phenotype

  • Takeshi Kanaumi, MD

      Affiliations

    • Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan
    • ,
  • Shinichi Hirose, MD, PhD

      Affiliations

    • Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan
    • Corresponding Author InformationCommunications should be addressed to: Dr. Hirose; Department of Pediatrics; School of Medicine; Fukuoka University; 45-1, 7-chome Nanakuma, Jonan-ku; Fukuoka 814-0180, Japan
    • ,
  • Yu-ichi Goto, MD, PhD

      Affiliations

    • Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    • ,
  • Etsuo Naitou, MD, PhD

      Affiliations

    • Faculty of Pediatrics, University of Tokushima, School of Medicine, Tokushima, Japan.
    • ,
  • Akihisa Mitsudome, MD, PhD

      Affiliations

    • Department of Pediatrics, School of Medicine, Fukuoka University, Fukuoka, Japan

Received 17 February 2005 ,Accepted 2 August 2005.

References 

  1. Goto Y , Nonaka I , Horai S . A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies . Nature . 1990;348(6302):651–653
  2. Shottner JM , Wallace DC . Oxidative phosphorylation disease . In:  Scriver CR ,  Beaudet AL ,  Sly WS ,  Valle D editor. The metabolic and molecular basis of inherited disease . 7th ed.. New York: McGraw–Hill, Inc; 1995;p. 1535–1609
  3. Tanji K , Kunimatsu T , Vu TH , Bonilla E . Neuropathological features of mitochondrial disorders . Semin Cell Dev Biol . 2001;12:429–439
  4. Okhuijsen-Kroes EJ , Trijbels JM , Sengers RC , et al.   Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation . Neuropediatrics . 2001;32:183–190
  5. Deschauer M , Muller T , Wieser T , Schulte-Mattler W , Kornhuber M , Zierz S . Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation . Arch Neurol . 2001;58:1885–1888
  6. Koo B , Becker LE , Chuang S , et al.   Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS) (Clinical, radiological, pathological, and genetic observations) . Ann Neurol . 1993;34:25–32
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  8. Schwartz MS , Prior PF , Scott DF . The occurrence and evolution in the EEG of a lateralized periodic phenomenon . Brain . 1973;96:613–622
  9. Garcia-Morales I , Garcia MT , Galan-Davila L , et al.   Periodic lateralized epileptiform discharges (Etiology, clinical aspects, seizures, and evolution in 130 patients) . J Clin Neurophysiol . 2002;19:172–177
  10. Westmoreland BF , Klass DW , Sharbrough FW . Chronic periodic lateralized epileptiform discharges . Arch Neurol . 1986;43:494–496
  11. Funakawa I , Yasuda T , Terao A . Periodic lateralized epileptiform discharges in mitochondrial encephalomyopathy . Electroencephalogr Clin Neurophysiol . 1997;103:370–375
  12. Canafoglia L , Franceschetti S , Antozzi C , et al.   Epileptic phenotypes associated with mitochondrial disorders . Neurology . 2001;56:1340–1346
  13. de Lonlay-Debeney P , von Kleist-Retzow JC , Hertz-Pannier L , et al.   Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency . J Pediatr . 2000;136:209–214

PII: S0887-8994(05)00495-9

doi: 10.1016/j.pediatrneurol.2005.08.024

Pediatric Neurology
Volume 34, Issue 3 , Pages 235-238 , March 2006

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