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Persistent hyperlactacidaemia: about a clinical case

Ana Rita Saraiva Oliveira,1 Rosalina Valente,2 José Ramos,2 Lurdes Ventura2

1 Department of Pediatrics, Hospital São Teotónio-Centro Hospitalar Tondela Viseu, Viseu, Portugal
2 Department of Pediatric Intensive Care Unit, Hospital Dona Estefânia - Centro Hospitalar Lisboa Central, Lisboa, Portugal

- Revista Case Rep 2013; doi 10.1136/bcr-2013-009485

SUMMARY
Lactate is the endogenous end product of the anaerobic glycolysis, whose production  is favoured in situations of hypoperfusion or mitochondrial dysfunction.  Leigh syndrome  is a rare, progressive encephalomyopathy that represents a spectrum of mitochondrial genetic diseases phenotypically distinct, but with neuroradiological and pathological uniform presentation. We present the case of a 7-month-old infant, with a history of prematurity, psychomotor retardation and epilepsy, admitted  to the paediatric intensive care unit (PICU) due to cardio- respiratory arrest because of respiratory infection. Hyperlactacidaemia was detected and was persistent. The study of redox potential was normal but MRI with spectroscopy identified bilateral and symmetrical lesions involving thalamic and basal ganglia, with small lactate peaks at T2 flair, findings  that were suggestive  of Leigh syndrome. Subsequent  enzymatic study identified lack of pyruvate dehydrogenase. Persistent hyperlactacidaemia, in the appropriate  clinical context, should lead to the screening of mitochondrial diseases.