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Article

Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.

Neuropediatrics - 1 Jun 2023

Croci Carolina, Cataldi Matteo, Baratto Serena, Bruno Claudio, Trucco Federica, Doccini Stefano, Romano Alessandro, Nesti Claudia, Santorelli Filippo Maria, Fiorillo Chiara

Abstract excerpt

INTRODUCTION: Pyruvate dehydrogenase complex (PDH) deficiency (Online Mendelian Inheritance in Man # 312170) is a relatively common mitochondrial disorder, caused by mutations in the X-linked PDHA1 gene and presenting with a variable phenotypic spectrum, ranging from severe infantile encephalopathy to milder chronic neurological disorders.Isolated peripheral neuropathy as predominant clinical presentation is...

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PMID: 36693417
DOI: 10.1055/a-2018-4845

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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