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

Conclusion We summarize the clinical and genetic characteristics of one patient with PDH deficiency presenting isolated peripheral nervous system involvement. This study highlights that the diagnosis of PDH deficiency should be considered in children with unexplained peripheral neuropathy, even with features suggestive of acquired forms, especially in case of early onset and limited response to treatment. A simple analysis of lactic acid could help to target the diagnosis.In addition, we suggest that the residue Arg88 is the most frequently involved in this specific phenotype of PDH deficiency. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Neuropediatrics - March 7, 2023 Category: Neurology Authors: Croci, Carolina Cataldi, Matteo Baratto, Serena Bruno, Claudio Trucco, Federica Doccini, Stefano Romano, Alessandro Nesti, Claudia Santorelli, Filippo Maria Fiorillo, Chiara Tags: Short Communications Source Type: research