Acute-onset multiple acyl-CoA dehydrogenase deficiency mimicking Guillain-Barré 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 targeted next generation sequencing, which provided the definite diagnostic evidences of late-onset MADD. Muscle weakness was quickly improved by riboflavin supplementation, but sensory disturbances required a long-term treatment.

Discussion: The present two cases have demonstrated that MADD can mimic GBS. Taking into consideration the significant differences of therapeutic regimen and prognosis, MADD should be included in the differential diagnosis of GBS.

Keywords: Acute onset; Differential diagnosis; ETFDH; Guillain-Barré syndrome (GBS); Multiple acyl-CoA dehydrogenase deficiency (MADD); Phenotype.

Fig. 1

Pathological changes in the muscle specimen. Hematoxylin-eosin stain revealed numerous small vacuoles appearing in most muscle fibers of case 1 (a) and case 2 (b). Oil red O stain showed massive lipid droplets depositing in the corresponding vacuoles of case 1 (c) and case 2 (d)

Fig. 2

The chromatogram of ETFDH variants. The compound heterozygous mutations c.34G > C and c.1211 T > C in case 1 (a), and compound heterozygous mutations c.736G > A and c.1454C > G in case 2 (b)