Marcelo Chaves

Mielitis transversa aguda en Buenos Aires, Argentina. Estudio de una cohorte retrospectiva de 8 años de seguimiento

INTRODUCTION Epidemiological studies on acute transverse myelitis (ATM) in South America are scarce. The aim of our study was to describe demographic, clinical and para-clinical features of patients with ATM in a health care organisation in Buenos Aires. A further objective was to determine the aetiologies of ATM. METHODS All patients diagnosed with ATM between June 1, 2002 and June 30, 2010 were retrospectively identified, using the Transverse Myelitis Consortium Working Group criteria. RESULTS A total of 40 patients diagnosed with ATM, (24 females, 60%) were included. The mean follow-up was 57 ± 8 months. The principal cause of myelitis found was ATM secondary to demyelinating disease (55%). Idiopathic ATM was diagnosed in 15 (37.5%) cases in the sample. The majority of patients had an extensive cord lesion (50%) detectable with spinal MRI. CONCLUSION There are few epidemiological studies concerning ATM in Argentina, and we believe that it is important to be aware of the manner in which this condition manifests itself in this region. We would therefore be able to compare them with studies previously published in other countries.

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy

Introduction: Cylindrical spirals are characteristic muscular inclusions consisting of spiraling double‐laminated membranes. They are found in heterogeneous clinical conditions. Methods: We obtained muscle biopsies from 2 young sisters with severe congenital hypotonia, muscle weakness, and epileptic encephalopathy, and identified cylindrical spirals. Results: We found an association between congenital encephalomyopathy and cylindrical spirals. Conclusions: In this morphological and ultrastructural study, we speculate on the origin of these peculiar structures. Muscle Nerve 52: 895–899, 2015

Incidence of Autoimmune Myasthenia Gravis in a Health Maintenance Organization in Buenos Aires, Argentina

Background: Different epidemiological studies, especially in Europe, have estimated the incidence density of myasthenia gravis (MG) to range between 1.7 and 21.3/1,000,000/person-year; however, data from regions such as Latin America are scarce. This study is aimed at estimating the incidence and prevalence of acquired MG in Buenos Aires, Argentina. Methods: The study population comprised of affiliates of the Italian Hospital Medical Care Program, a prepaid health maintenance organization located in Buenos Aires. The evaluation method for case detection included a retrospective search from January 1, 2006, through December 31, 2012. Results: Of the 60 cases identified, 36 (60%) were females. The median age at diagnosis was 69 years (IQR 51.5-79). The mean age at diagnosis was 63.3 years (SD ±20). A total of 28 patients (46.7%) had generalized MG and 32 had ocular MG (53.3%). Thirty five patients (58.3%) had acetylcholine receptor antibodies and 2 (3.3%) had muscle-specific receptor tyrosine kinase antibodies. The crude incidence density (ID) of MG was 61.33 per 1,000,000 person-years (95% CI 47.62-79.99). The adjusted ID for the Argentinean population was 38.8 per 1,000,000 person-years (95% CI 27.09-50.51) and for the Buenos Aires population was 47.49 (95% CI 34.73-60.25). Conclusions: The results obtained are similar to those published for other geographical areas.

Immune-mediated rippling muscle disease and myasthenia gravis

Cases of acquired rippling muscle disease in association with myasthenia gravis have been reported. We present three patients with iRMD (immune-mediated rippling muscle disease) and AChR-antibody positive myasthenia gravis. None of them had thymus pathology. They presented exercise-induced muscle rippling combined with generalized myasthenia gravis. One of them had muscle biopsy showing a myopathic pattern and a patchy immunostaining with caveolin antibodies. They were successfully treated steroids and azathioprine. The immune nature of this association is supported by the response to immunotherapies and the positivity of AChR-antibodies.