title: Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients.
abstract: OBJECTIVE
  We sought to determine the long-term clinical and biochemical outcome of newborns with mitochondrial cytopathies (MCs) and to identify possible prognostic factors that may modify the course of these diseases.
  
  
  METHODS
  Fifty-seven newborns with MCs were identified in a retrospective review (1983-2002). We defined 2 different outcome categories: clinical (neurologic, hepatic, myopathic, and multiorganic) and biochemical (lactate level normalization or initially normal remaining unchanged, decreased but not normalized, and persistently high). We used 2 different statistical approaches: (1) survival studies depending on the initial symptoms and lactate and enzymatic deficiencies using the Kaplan-Meier method; and (2) the same variables compared with different survival age groups and clinical and biochemical outcome categories using the chi2 test.
  
  
  RESULTS
  Thirty-three patients died (57.8%), 12 remain alive (21%), and 12 were lost in the follow-up; 6 of them are currently older than 4 years. Most of the patients manifested multiorganic disease (64.8%) and high lactate level (77.1%) over time. Children surviving to 2.5 to 3 years of age were more likely to survive for a long period of time. Initial neurologic and hepatic presentation increased the risk to develop neurologic disease and severe persistent hyperlactacidemia, respectively. Initial severe hyperlactacidemia and combined enzyme deficiencies were significant risk factors for higher mortality and multiorganic disorders. Two patients with exclusively myopathic outcome are alive and cognitively normal at 12 years of life.
  
  
  CONCLUSIONS
  Children with neonatal-onset MCs have very high mortality and poor prospects. However, some with life-threatening presentations may gradually improve, giving rise to less severe diseases. Those with exclusively myopathic symptoms have a better prognosis.
authors.affiliation: Department of Pediatrics, Centre Hospitalier Universitaire Necker Enfants-Malades, Paris, France. agarcia@hsjdbcn.org
authors.forename: A
authors.initials: A
authors.lastname: García-Cazorla
authors.forename: P
authors.initials: P
authors.lastname: De Lonlay
authors.forename: M C
authors.initials: MC
authors.lastname: Nassogne
authors.forename: P
authors.initials: P
authors.lastname: Rustin
authors.forename: G
authors.initials: G
authors.lastname: Touati
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
mesh_terms: D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood / Q000175:diagnosis / Q000401:mortality; D019344:Lactic Acid / Q000097:blood; D008297:Male; D017240:Mitochondrial Myopathies / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000401:mortality; D011379:Prognosis
chemical_list: D019344:Lactic Acid