A symptomatic female <i>MTM1</i> mutation carrier with right ptosis and right-dominant asymmetric muscle weakness

DOI
  • Kihara Yuki
    Department of Pediatrics, Tokyo Women’s Medical University, Tokyo
  • Sato Takatoshi
    Department of Pediatrics, Tokyo Women’s Medical University, Tokyo
  • Taniguchi Naoko
    Department of Pediatrics, Tokyo Women’s Medical University, Tokyo Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Hyogo
  • Ishiguro Kumiko
    Department of Pediatrics, Tokyo Women’s Medical University, Tokyo
  • Shichiji Minobu
    Department of Pediatrics, Tokyo Women’s Medical University, Tokyo
  • Murakami Terumi
    Department of Pediatrics, Tokyo Women’s Medical University, Tokyo
  • Saito Yoshihiko
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo
  • Nishino Ichizo
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo
  • Nagata Satoru
    Department of Pediatrics, Tokyo Women’s Medical University, Tokyo
  • Ishigaki Keiko
    Department of Pediatrics, Tokyo Women’s Medical University, Tokyo

Bibliographic Information

Other Title
  • 右眼瞼下垂と右半身優位の筋力低下を認め, <i>MTM1</i>遺伝子変異症候性保因者と診断された女児例

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Abstract

<p>  We report a 5-year-old girl with no apparent perinatal abnormalities, except for right ptosis. The patient was admitted to our department at 2 years of age, as she was unable to walk without assistance despite 6 months of physical therapy. Continued right ptosis, right eye exotropia, high arched palate, and asymmetrical nasolabial sulcus were observed. Although mental retardation was absent and the patient could thus understand instructions, she was unable to walk up the stairs one step at a time, jump or one-step stand at age 3. At that time, we noticed that her muscle weakness was right dominant. Her serum creatine kinase level was normal, muscle CT revealed right greater gluteal muscle atrophy, and T1 weighted MRI demonstrated high intensity areas in the bilateral soleus muscles. At age 5, parental consent was obtained, and a muscle biopsy of the biceps brachii was performed. Centronuclear myopathy was detected by histopathological examination, and genetic testing revealed a previously reported heterozygous MTM1 missense mutation (NM_000252.3 (MTM1) : c.721C>T [p.Arg241Cys]). Reported characteristics of affected female carriers with this mutation include delayed onset of walking, asymmetric lateral appearances, ptosis, extraocular muscular disorder, and asymptomatic muscular weakness. Since there are no reports of this mutation in Japan, we describe this case in an effort to increase awareness of this disease when diagnosing asymmetric muscle weakness.</p>

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 52 (6), 408-413, 2020

    The Japanese Society of Child Neurology

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