Episodic Muscle Weakness is Rather Attributable to Pyruvate Dehydrogenase Deficiency than to Guillain-Barre Syndrome

Finsterer J MD, PhD (1)
(1) , Austria

Abstract

With interest we read the article by Sen et al. about two patients with  pyruvate dehydrogenase (PDC) deficiency (patient-1: 5yo male, patient-2: 39yo female, mother of patient-1) due to the variant c.821G > C; p.R274T in PDHA1 [1]. Patient-1 manifested with developmental delay, episodic muscle weakness, dystonia,   epilepsy,   and   episodic   lactic   acidosis   [1].   Patient-2   manifested   with   quadruparesis, ophthalmoparesis,  and  migraine  [1].  It  was  concluded  that  PDC  deficiency  should  be  included  in  the differential diagnoses of alternating hemiplegia in childhood [1]. The study is appealing but raises the followin1g comments and concerns

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Finsterer J MD, PhD
fifigs1@yahoo.de (Primary Contact)
MD, PhD, F. J. (2022). Episodic Muscle Weakness is Rather Attributable to Pyruvate Dehydrogenase Deficiency than to Guillain-Barre Syndrome. Journal of Medical Case Reports and Reviews, 4(04). Retrieved from http://jmcrr.info/index.php/jmcrr/article/view/124
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