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Partial efficacy of vigabatrin in an infant with West syndrome due to pyruvate dehydrogenase complex deficiency: A case report

  • Mitsuo Motobayashi
    Correspondence
    Address correspondence to: Mitsuo Motobayashi, M.D., Ph.D. Division of Neuropediatrics, Nagano Children’s Hospital. Address: 3100 Toyoshina, Azumino 399-8288, Japan. Phone: +81-263-73-6700, Fax: +81-263-73-5432,
    Affiliations
    Division of Neuropediatrics, Nagano Children’s Hospital, 3100 Toyoshina, Azumino 399-8288, Japan

    Life Science Research Center, Nagano Children’s Hospital, 3100 Toyoshina, Azumino 399-8288, Japan

    Neuro-Care Center, Nagano Children’s Hospital, 3100 Toyoshina, Azumino 399-8288, Japan

    Department of Pediatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan
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  • Shun Munakata
    Affiliations
    Life Science Research Center, Nagano Children’s Hospital, 3100 Toyoshina, Azumino 399-8288, Japan
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  • Noritaka Kitazawa
    Affiliations
    Department of Ophthalmology, Nagano Children’s Hospital, 3100 Toyoshina, Azumino 399-8288, Japan
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  • Takuya Fushimi
    Affiliations
    Center for Medical Genetics and Department of Metabolism, Chiba Children’s Hospital, 579-1 Heta-cho, Midori, Chiba 266-0007, Japan
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  • Kei Murayama
    Affiliations
    Center for Medical Genetics and Department of Metabolism, Chiba Children’s Hospital, 579-1 Heta-cho, Midori, Chiba 266-0007, Japan

    Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan
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  • Yuji Inaba
    Affiliations
    Division of Neuropediatrics, Nagano Children’s Hospital, 3100 Toyoshina, Azumino 399-8288, Japan

    Life Science Research Center, Nagano Children’s Hospital, 3100 Toyoshina, Azumino 399-8288, Japan

    Neuro-Care Center, Nagano Children’s Hospital, 3100 Toyoshina, Azumino 399-8288, Japan
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      Pyruvate dehydrogenase complex (PDHC) deficiency is a metabolic disease associated with lactic acidosis, and mutation in PDHA1 is the major cause.
      • Prasad C.
      • Rupar T.
      • Prasad A.N.
      Pyruvate dehydrogenase deficiency and epilepsy.
      ,
      • Bhandary S.
      • Aguan K.
      Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.
      The incidence rate of West syndrome among PDHC deficiency patients was reported as 17%.
      • Naito E.
      • Ito M.
      • Yokota I.
      • Saijo T.
      • Ogawa Y.
      • Shinahara K.
      • et al.
      Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency.
      Previous studies reported clinical experience of anti-epileptic therapies, including ketogenic diet and/or administration of vitamin B1, B6, sodium dichloroacetate, adrenocorticotropic hormone, zonisamide, valproic acid, and vigabatrin; however, few studies demonstrated the effectiveness of these treatments. Naito et al. reviewed the efficacy of combination therapy centered around sodium dichloroacetate and vitamin B1. Mayr et al. presented a girl with a 1.1 million base pair X-chromosomal deletion, which contained PDHA1 and CDKL5, and reported that her hypsarrhythmia disappeared under concomitant therapy with ketogenic diet and vigabatrin, although she did not become seizure free.
      • Prasad C.
      • Rupar T.
      • Prasad A.N.
      Pyruvate dehydrogenase deficiency and epilepsy.
      ,
      • Naito E.
      • Ito M.
      • Yokota I.
      • Saijo T.
      • Ogawa Y.
      • Shinahara K.
      • et al.
      Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency.
      ,
      • Mayr J.A.
      • Koch J.
      • Fauth C.
      • Zimmermann F.A.
      • Rauscher C.
      • Zschocke J.
      • et al.
      A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.
      We present a girl with PDHC deficiency due to PDHA1 variant complicated by West syndrome whose spasms were resolved with vigabatrin.

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