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

作者：Hong, Daojun; Yu, Yanyan; Wang, Yuyao; Xu, Yan; Zhang, Jun^*

来源：BMC Neurology, 2018, 18(1): 219.

DOI：10.1186/s12883-018-1221-2

• Multiple acyl-CoA dehydrogenase deficiency (MADD)
• Guillain-Barre syndrome (GBS)
• ETFDH
• Phenotype
• Differential diagnosis
• Acute onset

BackgroundMultiple acyl-CoA dehydrogenase deficiency (MADD) showed great clinical heterogeneity and poses a challenge to diagnosis. Guillain-Barre 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 presentationTwo 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.DiscussionThe 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.

• 出版日期2018-12-26
• 单位南昌大学; 北京大学