A case report of mitochondrial respiratory chain disorder in the neonatal period for which home mechanical ventilation was introduced

DOI
  • Sugimoto Mari
    Department of Pediatrics, Toyohashi Municipal Hospital
  • Togawa Takao
    Department of Pediatrics, Toyohashi Municipal Hospital Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences
  • Aiba Kaori
    Department of Pediatrics, Toyohashi Municipal Hospital
  • Koyama Norihisa
    Department of Pediatrics, Toyohashi Municipal Hospital
  • Yokochi Kenji
    Department of Pediatrics, Toyohashi Municipal Hospital
  • Murayama Kei
    Department of Metabolomics, Chiba Children’s Hospital
  • Ohtake Akira
    Department of Pediatrics, Saitama Medical University

Bibliographic Information

Other Title
  • 新生児期に発症し在宅人工呼吸療法を導入したミトコンドリア呼吸鎖複合体異常症の1例

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Description

<p>  We report the case of a patient born with extreme muscle hypotonia, respiratory failure, and slightly elevated serum levels of lactic acid. Histochemical examination and mitochondrial respiratory chain enzyme activities of a muscle biopsy specimen revealed reduced activities of complexes Ⅰ, Ⅲ, and Ⅳ, diagnostic of mitochondrial respiratory chain disorder. Hypertrophic cardiomyopathy developed as a complication and additional therapy was administered at 3 months after birth. He was able to be discharged to home on applied home mechanical ventilation with tracheotomy at 1 year old. The patient survived until 4 years and 10 months of age, upon which he died of bronchitis. Early-onset mitochondrial respiratory chain disorder shows very poor prognosis and long-term survival has not been reported. Prompt assessment of mitochondrial respiratory chain enzyme activities is necessary for the diagnosis of congenital nonspecific multiple-organ failure, and early intervention may achieve better prognosis for mitochondrial respiratory chain disorder.</p>

Journal

  • NO TO HATTATSU

    NO TO HATTATSU 49 (1), 37-41, 2017

    The Japanese Society of Child Neurology

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