title: Persistent hyperlactacidaemia: about a clinical case.
abstract: 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.
authors.affiliation: Department of Pediatrics, Hospital São Teotónio-CEntro Hospitalar Tondela Viseu, Viseu, Portugal. ritas-oliveira@hotmail.com
authors.forename: Ana Rita Saraiva
authors.initials: AR
authors.lastname: Oliveira
authors.forename: Rosalina
authors.initials: R
authors.lastname: Valente
authors.forename: José
authors.initials: J
authors.lastname: Ramos
authors.forename: Lurdes
authors.initials: L
authors.lastname: Ventura
mesh_terms: D001921:Brain / Q000473:pathology; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000097:blood*; D007888:Leigh Disease / Q000097:blood / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000097:blood / Q000175:diagnosis* / Q000473:pathology
chemical_list: D019344:Lactic Acid