Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barre syndrome: two cases report.

ABSTRACT:

Background

Multiple acyl-CoA dehydrogenase deficiency (MADD) showed great clinical heterogeneity and poses a challenge to diagnosis. Guillain-Barré syndrome (GBS) is an acute-onset autoimmune-mediated peripheral neuropathy. However, no patients of acute-onset MADD mimicking the GBS phenotype are reported previously.

Case presentation

Two patients displayed acute-onset limb weakness, areflexia, and length-dependent sensory disturbances, which clinically indicate the diagnosis of GBS, but electrophysiological and cerebrospinal fluid results threw doubtful points to the initial diagnosis. The muscle biopsy showed lipid storage disorder; and compound heterozygous mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene were found in the two patients through tar

SUBMITTER: Hong D 

PROVIDER: S-EPMC6306005 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature