Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the majority of patients (90% in Europe and USA, but less in other regions), is characterized by effects on the viscera, whereas types 2 and 3 are also associated with neurological impairment, either severe in type 2 or variable in type 3. A diagnosis of GD can be confirmed by demonstrating the deficiency of acid glucocerebrosidase activity in leukocytes. Mutations in the GBA1 gene should be identified as they may be of prognostic value in some cases. Patients with type-1 GD—but also carriers of GBA1 mutation—have been found to be predisposed to developing Parkinson’s disease, and the risk of neoplasia associated with the disease is still subject to discussion. Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase). Orally administered inhibitors of glucosylceramide biosynthesis can also be used (miglustat or eliglustat).

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Background and purpose: The spectrum of COVID-19, caused by severe acute respiratory syndrome coronavirus 2 infection (SARS-CoV-2), includes different neurologic manifestations of the central and peripheral nervous system. Methods: From March through April 2020, in two university hospitals located in western Switzerland, we examined three patients with Guillain-Barr e syndrome (GBS) following SARS-CoV-2. Results: These cases were characterized by a primary demyelinating electrophysiological pattern (Acute inflammatory demyelinating polyneuropathy or AIDP) and a less severe disease course compared to recently published case series. Clinical improvement was observed in all patients at week five. One patient was discharged from hospital after full recovery with persistence of minor neurological signs (areflexia). Two of the three patients remained hospitalized: one was able to walk and the other could stand up with assistance. Conclusions: We report three cases of typical GBS (AIDP) occurring after SARS-CoV-2 infection and presenting with a favourable clinical course. Given the interval between COVID-19-related symptoms and neurological manifestations (mean of 15 days) we postulate a secondary immune-mediated mechanism rather than direct viral damage.

The diagnosis of pneumonia is challenging. Our objective was to assess whether low-dose computed tomography (LDCT) modified the probability of diagnosing pneumonia in elderly patients.We prospectively included patients aged over 65 years with a suspicion of pneumonia treated with antimicrobial therapy (AT). All patients had a chest radiograph and LDCT within 72 h of inclusion. The treating clinician assessed the probability of pneumonia before and after the LDCT scan using a Likert scale. An adjudication committee retrospectively rated the probability of pneumonia and was considered as the reference for diagnosis. The main outcome was the difference in the clinician's pneumonia probability estimates before and after LDCT and the proportion of modified diagnoses which matched the reference diagnosis (the net reclassification improvement (NRI)).A total of 200 patients with a median age of 84 years were included. After LDCT, the estimated probability of pneumonia changed in 90 patients (45%), of which 60 (30%) were downgraded and 30 (15%) were upgraded. The NRI was 8% (NRI event (−6%) + NRI non-event (14%)).LDCT modified the estimated probability of pneumonia in a substantial proportion of patients. It mostly helped to exclude a diagnosis of pneumonia and hence to reduce unnecessary AT.