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Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.

Developmental medicine and child neurology - 1 May 2012

Giribaldi Gaia, Doria-Lamba Laura, Biancheri Roberta, Severino Mariasavina, Rossi Andrea, Santorelli Filippo M, Schiaffino Cristina, Caruso Ubaldo, Piemonte Fiorella, Bruno Claudio

Abstract excerpt

Pyruvate dehydrogenase complex (PDHC) deficiency causes encephalomyopathies, of which there are four major categories: (1) neonatal encephalopathy with lactic acidosis; (2) an early infantile form, which (3) at times resembles Leigh syndrome; and (4) a later-onset form. Long-term clinical and radiological follow-up is still incompletely elucidated. We report a 12-year-old male with intermittent-relapsing PDHC...

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PMID: 22142326
DOI: 10.1111/j.1469-8749.2011.04151.x

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