ABSTRACT
INTRODUCTION: Rapidly progressive dementia (RPD) is a broadly defined clinical syndrome. Our aim was to describe clinical and ancillary study findings in patients with RPD and evaluate their diagnostic performance for the identification of nonchronic neurodegenerative rapidly progressive dementia (ncnRPD). METHODS: We reviewed clinical records and ancillary methods of patients evaluated for RPD at our institution in Buenos Aires, Argentina from 2011 to 2017. We compared findings between chronic neurodegenerative RPD and ncnRPD and evaluated the diagnostic metrics using receiver operating characteristic curves. RESULTS: We included 104 patients with RPD, 29 of whom were chronic neurodegenerative RPD and 75 of whom were ncnRPD. The 6-month time to dementia cutpoint had a sensitivity of 89% and specificity of 100% for ncnRPD, with an area under the receiver operating characteristic curve of 0.965 (95% confidence interval=0.935-0.99; P<0.001). A decision tree that included time to dementia, brain magnetic resonance imaging, and cerebrospinal fluid analysis identified ncnRPD patients with a sensitivity of 100%, specificity of 79%, positive predictive value of 93%, and negative predictive value of 100% overall. DISCUSSION: RPD is a clinical syndrome that comprises different diagnoses, many of them for treatable diseases. Using the time to dementia, brain magnetic resonance imaging, and cerebrospinal fluid analysis when triaging these patients could help identify those diseases that need to be studied more aggressively.
Subject(s)
AIDS Dementia Complex/diagnosis , Disease Progression , Limbic Encephalitis/diagnosis , Neurodegenerative Diseases/diagnosis , Prion Diseases/diagnosis , Aged , Aged, 80 and over , Argentina , Diagnosis, Differential , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Referral and Consultation , Retrospective Studies , Sensitivity and SpecificityABSTRACT
BACKGROUND: Multiple sclerosis is a complex disease in which genetic susceptibility plays a role and familial occurrence has long been recognized. To date, no studies of familial occurrence have been conducted in Argentina, a country with low to intermediate prevalence. METHODS: As part of a cross-sectional study on multiple sclerosis in Buenos Aires, immediate and extended pedigree details were collected on 219 patients. Crude and age-adjusted recurrence risks for patient relatives were also assessed. RESULTS: Details on age or age of death and disease status were obtained for 4227 relatives. Ten percent of patients reported at least one relative with MS diagnosis, the highest risk (1.54%) was observed in daughters of patients who presented 92-times greater risk than the general population. Sibling recurrence risk ratio was similar to that reported in other locations. CONCLUSIONS: Relatives of patients with MS living in Argentina are at greater risk of developing the disease, although not as high as the risk reported for other geographic regions.
