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

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