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

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

Research output: Contribution to journalArticlepeer-review


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 deficiency who presented with three typical acute episodes of metabolic decompensation over 7years. Neuroimaging showed reversible signal abnormalities in the basal ganglia, inferior olivary nuclei, periaqueductal grey matter, and dentate nuclei, with evidence of lactate on magnetic resonance spectroscopy. Molecular analysis of PDH1A revealed a novel hemizygous c.1045G>A mutation, predicting a p.A349T missense mutation. He was treated with thiamine supplementation and, while on this regimen, he experienced several intercurrent febrile episodes without neurological compromise. This case report stresses the importance of performing neuroimaging during acute clinical episodes because brain lesions in PDHC deficiency may be transient and reversible, and false-negative results may mislead the diagnosis and delay the treatment.

Original languageEnglish
Pages (from-to)472-476
Number of pages5
JournalDevelopmental Medicine and Child Neurology
Issue number5
Publication statusPublished - May 2012

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience


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