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

No To Hattatsu. 2017 Jan;49(1):37-41.
[Article in Japanese]

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Child, Preschool
  • Fatal Outcome
  • Home Care Services
  • Humans
  • Male
  • Mitochondrial Diseases / complications
  • Mitochondrial Diseases / therapy*
  • Muscle Hypotonia / complications
  • Muscle Hypotonia / pathology
  • Respiration, Artificial