Persistent hyperlactacidaemia: about a clinical case.
BMJ Case Rep
; 20132013 May 22.
Article
en En
| MEDLINE
| ID: mdl-23704442
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad por Deficiencia del Complejo Piruvato Deshidrogenasa
/
Enfermedad de Leigh
/
Ácido Láctico
Tipo de estudio:
Prognostic_studies
Límite:
Humans
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Infant
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Male
Idioma:
En
Año:
2013
Tipo del documento:
Article