A boy with a <i>CDKL5</i> mutation presenting intractable epilepsy and visual disturbance

DOI
  • Fujiwara Yurika
    Department of Pediatrics, Tokyo Woman Medical University Yachiyo Medical Center, Yachiyo, Chiba
  • Sano Kentaro
    Department of Pediatrics, Tokyo Woman Medical University Yachiyo Medical Center, Yachiyo, Chiba
  • Abe Katsuhiro
    Department of Pediatrics, Tokyo Woman Medical University Yachiyo Medical Center, Yachiyo, Chiba
  • Muto Ayako
    Department of Pediatrics, Tokyo Woman Medical University Yachiyo Medical Center, Yachiyo, Chiba
  • Yamaguchi Tokito
    Department of Pediatrics, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka
  • Kato Mitsuhiro
    Department of Pediatrics, Showa University School of Medicine, Tokyo
  • Nakashima Mitsuko
    Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa
  • Matsumoto Naomichi
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa
  • Hayashi Kitami
    Department of Pediatric neurology, Tokyo Woman Medical University Yachiyo Medical Center, Yachiyo, Chiba
  • Takanashi Junichi
    Department of Pediatrics, Tokyo Woman Medical University Yachiyo Medical Center, Yachiyo, Chiba

Bibliographic Information

Other Title
  • 難治性てんかんと視機能異常を認めた<i>CDKL5</i>遺伝子変異を有する男児例

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Description

<p>  We report a boy with a CDKL5 mutation (CDKL5:c.2023_2026del [p.Phe675Ilefs*108]) showing intractable epilepsy accompanied with visual disturbance. From 25-days-old, he presented with twitching of his limbs for several seconds. MRI and cerebrospinal fluid studies at 1 month were normal. A diagnosis of partial seizures was made based on the ictal EEG. After 4 months, he presented epileptic spasms in clusters with hypsarrhythmia on EEG, leading to a diagnosis of West syndrome. The epileptic spasms were intractable to ACTH therapy and multiple anti-epileptic drugs. He showed a normal light reflex but showed no pursuit or response on light stimulation with abnormal VEP and normal ERG, which gave a diagnosis of cortical blindness. Whole exosome sequencing confirmed a mutation of CDKL5. A mutation of CDKL5 should be considered in a patient with neonatal onset intractable epilepsy and visual disturbance.</p>

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 51 (1), 25-28, 2019

    The Japanese Society of Child Neurology

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