Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T).

Multi-component intrinsic brain activities as a safe alternative to cortical stimulation for sensori-motor mapping in neurosurgery.

OBJECTIVE: To assess the feasibility of multi-component electrocorticography (ECoG)-based mapping using "wide-spectrum, intrinsic-brain activities" for identifying the primary sensori-motor area (S1-M1). METHODS: We evaluated 14 epilepsy patients with 1514 subdural electrodes implantation covering the perirolandic cortices at Kyoto University Hospital between 2011 and 2016. We performed multi-component, ECoG-based mapping (band-pass filter, 0.016-300/600 Hz) involving combined analyses of the single components: movement-related cortical potential (<0.5-1 Hz), event-related synchronization (76-200 Hz), and event-related de-synchronization (8-24 Hz) to identify the S1-M1. The feasibility of multi-component mapping was assessed through comparisons with single-component mapping and electrical cortical stimulation (ECS). RESULTS: Among 54 functional areas evaluation, ECoG-based maps showed significantly higher rate of localization concordances with ECS maps when the three single-component maps were consistent than when those were inconsistent with each other (p < 0.001 in motor, and p = 0.02 in sensory mappings). Multi-component mapping revealed high sensitivity (89-90%) and specificity (94-97%) as compared with ECS. CONCLUSIONS: Wide-spectrum, multi-component ECoG-based mapping is feasible, having high sensitivity/specificity relative to ECS. SIGNIFICANCE: This safe (non-stimulus) mapping strategy, alternative to ECS, would allow clinicians to rule in/out the possibility of brain function prior to resection surgery.

Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy.

Brain dysfunction in Japanese benign adult familial myoclonus epilepsy (BAFME) has not been elucidated. To clarify diffuse brain dysfunction as indicated by posterior dominant rhythm (PDR) slowing in patients with BAFME. The frequency of PDR on EEG was studied in 19 BAFME patients (50.6±15.7 years) and 38 age-matched control subjects (50.1±14.5 years). We investigated the relationship between age and PDR in both groups. PDR frequency in the patient group (9.1±0.7 Hz) was significantly slower than that of age-matched control subjects (10.4±1.1 Hz; p<0.0001), regardless of the use of anticonvulsants. There was no significant difference in PDR slowing with age between groups. These findings suggest that Japanese patients with BAFME have mild diffuse brain dysfunction with minimal progression.