Schinzel-Giedion syndrome is a rare condition characterized by dysmorphic features, neurologic features, urogenital abnormalities, and radiographic changes. The etiology has been traced to mutations in the SETBP1 gene. We report a Filipino patient with features suggestive of Schinzel-Giedion Syndrome and the first to be confirmed through molecular testing.
View Article and Find Full Text PDFBackground: Autoimmune encephalitis (AE) is an emerging disorder in adults and children. Due to its potentially reversible nature, prompt recognition and intervention are of utmost importance.
Objective: To describe the clinical and paraclinical features, as well as treatment outcomes of patients with AE admitted in a Philippine tertiary hospital.
Background: This study aimed to determine the frequency of electrographically confirmed nonconvulsive status epilepticus (NCSE) in a cohort suspected with this condition and to determine the demographic/clinical profile, treatment, and outcomes of these patients in the context of a developing country, the Philippines.
Methods: We conducted a retrospective study among patients with suspected with NCSE admitted in the Philippine General Hospital from 2014 to 2019. Using the Salzberg 2013 criteria to diagnose NCSE, three electroencephalographers independently reviewed the electroencephalogram (EEG) tracings of suspected patients and were blinded from the clinical information.