Objectives: We detail a case of recurrent, postinfectious, cerebellar ataxia associated with a likely pathogenic previously documented gene variant in .
Methods: The patient was identified after her second hospitalization for postinfectious cerebellar ataxia. Genetic testing was performed after discharge.
Introduction: Down Syndrome Regression Disorder (DSRD) is a neuropsychiatric condition causing insomnia, catatonia, encephalopathy, and obsessive-compulsive behavior in otherwise healthy individuals with Down syndrome (DS). Smaller cohorts have identified heterogenous diagnostic abnormalities which have predicted immunotherapy responsiveness although pattern analysis in a large cohort has never been performed.
Methods: A multi-center, retrospective study of individuals with DSRD was performed.
Purpose: Down syndrome regression disorder (DSRD) is a rare neuropsychiatric condition affecting otherwise healthy individuals with Down syndrome. Multiple studies on DSRD have revealed that immunotherapy with intravenous immunoglobulin (IVIg) is both safe and effective, although site of infusion has never been studied. This study sought to evaluate the safety and tolerability of IVIg in individuals with DSRD receiving home-based infusions.
View Article and Find Full Text PDFAnn Otol Rhinol Laryngol
February 2025
Objectives: Intraoperative parathyroid hormone (IOPTH) monitoring has become routine in parathyroid surgery to facilitate less invasive techniques to treat hyperparathyroidism. Despite this, little is known about in vivo IOPTH kinetics, which can greatly affect the reliability of its interpretation.
Methods: A prospective cohort of patients undergoing routine parathyroidectomy was studied.