3 documents found, page 1 of 1
Infantile Neuroaxonal Dystrophy: Clinical Case
Alveirinho, Filipa; Noites, Inês; Conceição, Carla; Rodrigues, Ana Luísa; Viveiros, EuláliaInfantile neuroaxonal dystrophy is a rare neurodegenerative disorder caused by mutations in the PLA2G6 gene and is part of the neurodegeneration with brain iron accumulation disease group. We present the case of a three-year-old male with a six-month history of neurodevelopmental regression, including motor and speech regression. Brain magnetic resonance imaging (MRI) revealed characteristic findings such as cl...
King-Denborough Syndrome: Report of a Family
Vasco, João; Viveiros, Eulália; Pires, PaulaWe report a case of an Azorean family with the diagnosis of the King-Denborough syndrome. Both mother and the two siblings present all the characteristic clinical findings of this syndrome – facial dysmorphias (with palpebral ptosis, malar hypoplasia, arched palate and micrognathia), musculoskeletal abnormalities (bell-shaped chest, pectus excavatum and lumbar hyperlordosis), diminished lower limbs strength wit...
Fatores preditivos e morbilidades associadas à persistência de canal arterial e...
Sanches, Marcos Martins; Viveiros, Eulália; Neves, Célia; Alves, Marta; Virella, DanielIntrodução: A persistência de canal arterial hemodinamicamente significativo (PCAHS) é uma patologia frequente em recém-nascidos com muito baixo peso (RNMBP). O objetivo deste trabalho foi identificar fatores de risco e morbilidades associadas à PCAHS. Metodologia: Identificaram-se os recém-nascidos (RN) com idade gestacional entre 27 e 31 semanas e peso de nascimento <1500 g admitidos numa Unidade de Cuidados ...