Abstract

BRAZ, María et al. CONGENITAL LACTIC ACIDOSIS AND EPILEPSY. CASE REPORT AND REVIEW OF THE LITERATURE. Arch Venez Puer Ped [online]. 2011, vol.74, n.2, pp.025-029. ISSN 0004-0649.

Inborn errors of metabolism (IEM) are defined as inherited diseases, most of which are autosomal recessive, caused by mutations that affect the structure or function of a protein, which causes disruption of a metabolic pathway, with accumulation of metabolites in tissues and biological fluids and the consequent impairment of intracellular biochemistry. The diversity of these diseases derives, not only from the degree of involvement of the gene, but also from the type and function of the protein which synthesis is altered. It is important to emphasize that most patients have neurological dysfunction that initiates from an early age. We report the case of male child of a 2 yearsold male child with a history of hypotonia at birth and treatment-resistant epilepsy since age 4 months, with episodes of neurologic decompensation (status epilepticus) triggered by infectious processes and important development delay. The persistence of decompensated metabolic acidosis, high anion gap and elevated lactate in plasma suggested the diagnosis of an IEM. Additional studies report a high pre-and postprandial lactate/pyruvate ratio and high lactate in cerebrospinal fluid by chromatography of organic acids. Magnetic resonance imaging evidenced the presence of cerebral dysgenesis, agenesis of the corpus callosum, pachygyria-polymicrogyria complex. The clinical, biochemical abnormalities and neuroimaging suggested the diagnosis of IEM: primary lactic acidosis, likely enzyme defect of mitochondrial respiratory disorder.

Keywords : congenital error of metabolism; epilepsy; lactate; pyruvate; primary lactic acidosis.