A clinico-electroencephalographic report : A BPAN patient with a drastic evolution of intractable epilepsy over a long-term period from infancy to adulthood

DOI
  • Nishimoto Shizuka
    Department of Child Neurology, Okayama University Hospital, Okayama
  • Yoshinaga Harumi
    Department of Child Neurology, National Hospital Organization Minami-Okayama Medical Center, Tsukubo-gun, Okayama
  • Endo Fumika
    Department of Child Neurology, Okayama University Hospital, Okayama
  • Saitsu Hirotomo
    Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka
  • Matsumoto Naomichi
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa
  • Kobayashi Katsuhiro
    Department of Child Neurology, Okayama University Hospital, Okayama

Bibliographic Information

Other Title
  • 乳児期から成人期への長期経過で多彩なてんかんの病像変容を認めたBPANの臨床・脳波学的報告

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Abstract

<p>  Beta-propeller protein-associated neurodegeneration (BPAN) is a neurodegenerative disorder characterized by iron deposition in the brain. We herein report a 24-year-old female patient with BPAN who harbors a mutation of the WDR45 gene which is X-linked dominant and who has had a drastic evolution of intractable epilepsy over a long-term period.</p><p>  The patient initially experienced a left side-dominant tonic-clonic seizure at seven months of age, and a focal impaired awareness seizure at the age of one. After the onset of seizures, her development deteriorated slowly : she began to walk without support at one year seven months of age, but could not understand language. She subsequently had refractory seizures including tonic seizures and atypical absence seizures. Electroencephalogram (EEG) records showed diffuse high-amplitude background fast waves, bursts of fast rhythm, and diffuse slow spike-and-wave bursts.</p><p>  At the age of 19 years, magnetic resonance imaging (MRI) showed hypointensity of the globi pallidi and substantia nigra in the T2-weighted images, and whole-exome sequencing disclosed a de novo mutation, NM_007075.3 : c.830＋2dup, in WDR45. At around 20 years of age, her motor ability worsened, and the tonic seizures increased. EEG abnormalities, however, dissipated with the disappearance of atypical absence seizures.</p><p>  The present report is the first case of a clinical and EEG evolution of epilepsy associated with BPAN, and may provide a clue for understanding the evolutional changes of brain functions of this disease.</p>

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 51 (5), 323-327, 2019

    The Japanese Society of Child Neurology

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