Authors: García Divahia, Martinez Natalia C, Espinosa Eugenia.
Introduction: The pyruvate dehydrogenase complex (PDC) is a multienzyme complex responsible for catalyzing the oxidative decarboxylation of pyruvate to Acetyl-CoA. A defect in any of its components can interfere with the production of energy on a cellular level; within these disorders we find pyruvate dehydrogenase (PDH) deficiency characterized by clinical neurological and systemic signs of varying severity, highlighting lactic acidosis, neurological and progressive neuromuscular deterioration.
Objective: Describe the case of a female, school aged patient with characteristic craniofacial dysmorphology, neurodevelopmental delay and episodes of metabolic decompensation due to infections, with a mutation in the PDHX gene, treated with a ketogenic diet, thiamine, lipoic acid and carnitine.
Results: The findings that made it possible to focus the diagnosis were elevated plasma and CSF lactate levels associated with persistent metabolic acidosis with accentuation of hyper intensity in the cortical sulci and in the in the bilateral basal ganglia and lenticular nuclei region of the brain on magnetic resonance imaging. Magnetic resonance imaging with spectroscopy showed a negative peak of lactate. Confirming the diagnosis with an exome of 6000 genes where a homozygous pathogenic variant is found in the PDHX gene position c.1426C> T.
Conclusion: PDH deficiency should be considered in cases of neurodevelopmental delay associated with intermittent episodes of neurological deterioration and elevated blood lactate and as well as elevated lactate in magnetic resonance spectroscopy of the brain. Unlike those affected by other subtypes, patients with E3-binding protein deficiency often survive childhood and even adulthood due to the presence of assembly to a certain extent of some of the pyruvate dehydrogenase complex. Prompt diagnosis opens the possibility of starting early supportive management, providing genetic counseling to parents, as well as establishing prognosis.
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