A Case of X-linked Myotubular Myopathy with Dysphasia

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  • Sato Emiri
    Tokyo Women's Medical University Yachiyo Medical Center, Otorhinolaryngology & Pediatric Otorhinolaryngology Tokyo Women's Medical University, Otorhinolaryngology
  • Saigusa Hideto
    Tokyo Women's Medical University Yachiyo Medical Center, Otorhinolaryngology & Pediatric Otorhinolaryngology
  • Kadosono Osamu
    Tokyo Women's Medical University Yachiyo Medical Center, Otorhinolaryngology & Pediatric Otorhinolaryngology
  • Yamamoto Keisuke
    Tokyo Women's Medical University Yachiyo Medical Center, Otorhinolaryngology & Pediatric Otorhinolaryngology
  • Maeda Yasuyo
    Tokyo Women's Medical University Yachiyo Medical Center, Otorhinolaryngology & Pediatric Otorhinolaryngology
  • Ito Hiroyuki
    Tokyo Women's Medical University Yachiyo Medical Center, Otorhinolaryngology & Pediatric Otorhinolaryngology
  • Nonaka Manabu
    Tokyo Women's Medical University, Otorhinolaryngology

Bibliographic Information

Other Title
  • 嚥下障害を合併した X 連鎖性ミオチュブラーミオパチー症例の治療経験
  • エンカ ショウガイ オ ガッペイ シタ X レンサセイ ミオチュブラーミオパチー ショウレイ ノ チリョウ ケイケン

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Abstract

<p>　We present the case of a 16-year-old male patient, who was diagnosed as having the severe form of X-linked myotubular myopathy (XLMTM). The patient had asphyxia at birth, and underwent respiratory and nutritional management in the NICU after birth. He showed delayed milestones, and grew under the support of NPPV during sleep since the age of 1 year, ate regular meals from the age of 5 years, taking much time to complete meals and frequently choking, and started to walk only at 7 years of age.</p><p>　Eleven months prior to the current admission, the patient had undergone surgical correction and posterior fixation for severe scoliosis. After the surgery, he developed hemopneumothorax, which necessitated a tracheostomy. However, the site of the tracheal stoma was inadequate to the corrected erect posture, raising concern about the risk of tracheo-innominate artery fistula and tracheo-esophageal fistula. During the postoperative course, he also suffered from an aggravation of dysphagia, which could not be reversed by rehabilitation.</p><p>　The tracheal stoma was closed and relocated to a higher site, where the spinal curve was more gradual. A cricopharyngeal myotomy was performed at the same time. After the surgeries, the patient reacquired his ability for speech and also showed improvement of the swallowing function. Histopathological examination revealed a remarkable fibrotic change of the cricopharyngeal muscle as compared to the omohyoid muscle.</p>

Journal

  • Nippon Jibiinkoka Gakkai Kaiho

    Nippon Jibiinkoka Gakkai Kaiho 124 (3), 218-224, 2021-03-20

    Japanese Society of Otorhinolaryngology-Head and neck surgery

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