4 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,...
Plasmapheresis in acute disseminated encephalomyelitis associated with anti-MOG...
Soares, Joana; Figueiredo, Rafael; Pinto, Eduarda; Cardoso, Ana Lúcia; Sarmento, Alzira; Sameiro Faria, Maria; Figueiroa, Sónia; Ferreira, PaulaAcute disseminated encephalomyelitis (ADEM) is an acute demyelinating disorder of the central nervous system. ADEM should be suspected when a patient develops multifocal neurologic abnormalities with encephalopathy, especially if occurring after a viral infection or immunization. In this study, the authors describe two cases of ADEM with positive anti-myelin oligodendrocyte glycoprotein (MOG) antibodies requiri...
Síndrome de Wolfram. A Propósito de Um Caso Clínico
Figueiredo, Ana Cristina; Pinto, Eduarda; Frutuoso, Simão; Dores, Jorge; Carvalho, Rui; Alves, ValterA síndrome de Wolfram, inicialmente descrita em 1938, caracteriza-se pela associação de Diabetes Mellitus, atrofia óptica e de forma mais inconstante surdez, Diabetes Insípida, alterações urinárias e neurológicas. Esta síndrome, frequentemente familiar, tem uma transmissão autossómica recessiva, tendo sido descrita recentemente uma ligação a marcadores no braço curto do cromossoma 4. Descreve-se o caso de uma m...