Published online November 1, 2005
PEDIATRICS Vol. 116 No. 5 November 2005, pp. 1170-1177 (doi:10.1542/10.1542/peds.2004-2407)
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Long-term Follow-up of Neonatal Mitochondrial Cytopathies: A Study of 57 Patients

A. García-Cazorla, PhD*, P. De Lonlay, PhD*, M.C. Nassogne, PhD*, P. Rustin, PhD{ddagger}, G. Touati, PhD* and J.M. Saudubray, PhD*

* Metabolic Diseases Unit, Department of Pediatrics, Centre Hospitalier Universitaire Necker Enfants-Malades, Paris, France
{ddagger} Institut National de la Santé et de la Recherche Médicale, Research Units U375 and 30, Paris, France

Objectives. 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.

Material and 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 {chi}2 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.

Key Words: long-term follow up • mitochondrial disorders • neonatal morbidity • neonatal mortality • hyperlactacidemia

Abbreviations: C, electron transport chain complex • CPK, creatine phosphokinase • MC, mitochondrial cytopathy

Accepted Jan 21, 2005.


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