Background: Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase (GAA) gene and treated with enzyme replacement therapy (ERT). Methods: We studied the clinical, brain imaging, and genetic features of the Belgian cohort of late-onset Pompe disease patients (N = 52), and explored the sensitivity of different outcome measures, during a longitudinal period of 7 years (2010-2017), including the activity limitations ActivLim score, 6 min walking distance (6MWD), 10 m walk test (10MWT), MRC sum score, and forced vital capacity (FVC) sitting/supine. Results: In Belgium, we calculated an LOPD prevalence of 3.9 per million. Mean age at onset of 52 LOPD patients was 28.9 years (SD: 15.8 y), ranging from 7 months to 68 years. Seventy-five percent (N = 39) of the patients initially presented with limb-girdle weakness, whereas in 13% (N = 7) respiratory symptoms were the only initial symptom. Non-invasive ventilation (NIV) was started in 37% (N = 19), at a mean age of 49.5 years (SD: 11.9 y), with a mean duration of 15 years (SD: 10.2 y) after symptom onset. Brain imaging revealed abnormalities in 25% (N = 8) of the patients, with the presence of small cerebral aneurysm(s) in two patients and a vertebrobasilar dolichoectasia in another two. Mean diagnostic delay was 12.9 years. All patients were compound heterozygotes with the most prevalent mutation being c.-32-13 T > G in 96%. We identified two novel mutations in GAA: c.1610_1611delA and c.186dup11. For the 6MWD, MRC sum score, FVC sitting and FVC supine, we measured a significant decrease over time (p = 0.0002, p = 0.0001, p = 0.0077, p = 0.0151), which was not revealed with the ActivLim score and 10MWT (p > 0.05). Conclusions: Awareness on LOPD should even be further increased because of the long diagnostic delay. The 6MWD, but not the ActivLim score, is a sensitive outcome measure to follow up LOPD patients.

For the diagnosis of electrographic seizures or status epilepticus, we reduced the number of EEG-electrodes to make urgent EEG monitoring more feasible. Unlike the current existing research, with mixed results, we studied a specific population with postanoxic brain damage, expecting a higher yield of detection of ictal EEG patterns. In a population treated with therapeutic hypothermia post-cardiac arrest, the initial EEGs were reformatted in a longitudinal, a hairline and an 8-lead montage, and independently reviewed by two investigators. The EEGs were categorized into three categories: one without ictal EEG activity, one with interictal activity and one with probable electrographic seizure(s). Generalized ictal EEG activity was the most frequently observed EEG pattern. The average sensitivity for the detection of probable electrographic seizure(s) was 100 % for the 8-lead montage and 92 % in the hairline montage. In comparison to the routine longitudinal montage, the 8-lead montage proved to be reliable for the detection of electrographic seizure activity in a postanoxic population even with limited training in EEG interpretation. The hairline montage did not suffice with regard to the differential diagnosis of triphasic waves associated with metabolic encephalopathy and generalized nonconvulsive status epilepticus, but nonetheless detected the vast majority of probable electrographic seizure(s). Our results support the use of EEG monitoring with fewer electrodes for the detection of ictal EEG activity in the postanoxic population.