The brothers of X-linked Charcot-Marie-Tooth disease affected MERS type-2

DOI
  • Ito Ken
    Department of Pediatrics, Fuji City General Hospital, Shizuoka Department of Pediatrics, The Jikei University School of Medicine, Tokyo
  • Higurashi Norimichi
    Department of Pediatrics, The Jikei University School of Medicine, Tokyo
  • Kogawa Kentaro
    Department of Pediatrics, Fuji City General Hospital, Shizuoka Department of Pediatrics, The Jikei University School of Medicine, Tokyo
  • Hashiguchi Akihiro
    Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima
  • Takashima Hiroshi
    Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima
  • Kikuchi Kenjiro
    Department of Pediatrics, The Jikei University School of Medicine, Tokyo Division of Neurology, Saitama Children’s Medical Center, Saitama

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Other Title
  • MERS2型に罹患したX連鎖Charcot-Marie-Tooth病の兄弟例

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Abstract

<p>  Transient cerebral manifestations resembling mild encephalopathy with a reversible splenial lesion (MERS) type-2 have been reported in patients with X-linked Charcot-Marie-Tooth disease type-1 (CMTX1). Here, we report the case of two brothers with MERS type-2, who was later diagnosed with CMTX1. The 12-year-old younger brother developed an altered state of consciousness, quadriplesia, and dysarthria after an acute phase of mycoplasma pneumonia. We diagnosed MERS type-2 after diffusion-weighted magnetic resonance imaging revealed transient symmetric hyperintensity lesions in the splenium of the corpus callosum and cerebral white matter. We suspected CMTX1 because his older brother had previously suffered from MERS type-2 and further examination of the lower limbs revealed a persistent absence of deep tendon reflexes, high-arched feet, and “inverted champagne bottle” legs in both mother and brothers. Presence of the GJB1 missense mutation—NM_000166.6 (GJB1) : c. 77C>T (p. Ser26Leu) —was later confirmed in the younger brother. In cases of MERS type-2 with cerebral focal sign and without seizure, CMTX1 is considered as an underlying condition, but motor symptoms may be unnoticeable in childhood. Therefore, it is crucial to examine carefully lower limbs signs which can appear as early symptoms, not only in probands but also in their family.</p>

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 54 (1), 56-60, 2022

    The Japanese Society of Child Neurology

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