Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). There is no published data from Spain regarding the existing number of cases, regional distribution, clinical features or, access and response to the treatment. We created a registry to collect all these data from patients with Pompe in Spain. Here, we report the data of the 122 patients registered including nine IOPD and 113 LOPD patients. There was a high variability in how the diagnosis was obtained and how the follow-up was performed among different centres. Seven IOPD patients were still alive being all treated with enzymatic replacement therapy (ERT) at last visit. Ninety four of the 113 LOPD patients had muscle weakness of which 81 were receiving ERT. We observed a progressive decline in the results of muscle function tests during follow-up. Overall, the Spanish Pompe Registry is a valuable resource for understanding the demographics, patient's journey and clinical characteristics of patients in Spain. Our data supports the development of agreed guidelines to ensure that the care provided to the patients is standardized across the country.

Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.

Late onset Pompe disease (LOPD) is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzyme replacement therapy (ERT) with alglucosidase alpha (rhGAA). Although most of ERT treated patients develop antibodies against rhGAA, their influence on clinical progression is not completely known. We studied the impact of anti-rhGAA antibodies on clinical progression of 25 ERT treated patients. We evaluated patients at visit 0 and, after 1 year, at visit 1. We performed several muscle function tests, conventional spirometry and quantitative muscle MRI (qMRI) using 3-point Dixon analysis of thigh muscles at both visits. We also obtained serum samples at both visits and anti-rhGAA antibodies were quantified using ELISA. Antibody titers higher than 1:200 were identified in 18 patients (72%) of our cohort. Seven patients (28%) did not develop antibodies (0 to <1:200), 17 patients (68%) developed low to intermediate titers (1:200 to <1:31,200) and 1 patient (4%) developed high titers (>1:31,200). We analyzed the effect of low and intermediate antibody titers in clinical and radiological progression. There were no differences between the results of muscle function tests, spirometry or fat fraction analyzed using qMRI between patients with and without antibodies groups at baseline. Moreover, antibody titers did not influence muscle function test, spirometry results or qMRI results at year 1 visit. Most of the LOPD patients developed antibodies against ERT that persisted over time at low or intermediate levels. However, antibodies at these low and intermediate titers might not influence clinical response to the drug.

"Doctor, I Hear Music": A Brief Review About Musical Hallucinations.

Auditory hallucinations are defined as the abnormal perception of sound in the absence of an external auditory stimulus. Musical hallucinations constitute a complex type of auditory hallucination characterized by perception of melodies, music, or songs. Musical hallucinations are infrequent and have been described in 0.16% of a general hospital population. The auditory hallucinations are popularly associated with psychiatric disorders or degenerative neurological diseases but there may be other causes in which the patient evolves favorably with treatment. With this clinical case we want to stress the importance of knowing the causes of musical hallucinations due to the unpredictable social consequences that they can have.

Relevance of basilar artery study in patients with subclavian steal phenomenon.

A 72-year-old male presented to the emergency department with gait instability and unclear speech. Computed tomography of the brain showed old lacunar infarcts in basal ganglia. Transcranial Doppler (TCD) sonography was normal. Extracranial Duplex sonography showed indirect hemodynamic signs of bilateral subclavian artery stenosis and both vertebral arteries also showed delayed systolic flow increase. A bilateral subclavian steal phenomenon was suspected, and arm compression tests was performed. The tests promoted reverse flow in the right VA, loss of diastolic flow in the left VA and interestingly, the normal anterograde BA flow became retrograde. Although subclavian steal is likely to be an innocuous phenomenon for the majority of our patients, it is probable that the presence of a hemodynamic effect on the basilar artery may identify those who are at special risk of neurologic symptoms. So, we recommend TCD study in all patients suffering SSP to rule out the possibility of a BA steal phenomenon.