3 documents found, page 1 of 1
Neurological Involvement in a Portuguese Cohort of IgG4-Related Disease
Moura, João; Malaquias, Maria João; Jorge, Firmina; Pinto, Eduarda; Sardoeira , Ana; Laranjinha, Inês; Oliveira, Vanessa; Sousa, Ana PaulaIntroduction: Neurological involvement in immunoglobulin G4-related disease (IgG4-RD) is increasingly recognized. Its diagnosis can be challenging due to clinical mimics and difficulty in obtaining nervous system biopsies. The aim of this study was to describe a cohort of neurological IgG4-RD patients.Methods: Patients were recruited from a neuroimmunology tertiary center. Clinical, laboratory, neuroimaging and...
Distal Involvement and Subsarcolemmal Minicore-Like Areas in a Case of POGLUT1-...
Malaquias, Maria João; Mendonça Pinto, Miguel; Pinto, Eduarda; Pinto Basto, Jorge; Cardoso, Márcio; M. Pires, Manuel; Taipa, Ricardo; Chaves, JoãoPathogenic biallelic variants in POGLUT1 were linked to limb-girdle muscular dystrophy R21 (LGMD R21), a new type of LGMD featuring pelvic and shoulder girdle weakness, variable age of onset, slowly progressive course, and “inside-to-outside” fatty degeneration pattern in muscle magnetic resonance imaging (MRI). We describe a 54-year-old female with an infantile-onset, slowly progressive, pelvicgirdle myopathy,...
Diagnosis of Aicardi‐Goutières Syndrome in Adults: A Case Series
Videira, Gonçalo; Malaquias, Maria João; LARANJINHA, INES; Martins, Ricardo; Taipa, Ricardo; Magalhães, MarinaIntroduction: Aicardi-Goutières syndrome (AGS) is a genetic disease presenting with early-onset encephalopathy, generalized dystonia, spasticity, and cognitive disability. Diagnosis may be difficult in adults, as the clinical course seems static from infancy. Methods: AGS patients from an adult movement disorders outpatient clinic were retrospectively analyzed. Results: A total of 5 patients and 1 asymptomatic ...