2 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...
Congenital syphilis — preventable, yet increasing: 10-year data from a secondar...
Sousa, Maria; Vasco, João; Alveirinho, Filipa; Noites, Inês; Fraga, Beatriz; Pacheco, Lucinda; Monteiro, isabelIntroduction: Congenital syphilis (CS), which resultss from vertical transmission of Treponema pallidum, presents a broad spectrum of clinical manifestations in neonates. It’s effective control relies on early maternal diagnosis and treatment during pregnancy. Materials and methods: We conducted a retrospective and descriptive study of CS cases in the Neonatal Intensive Care Unit (NICU) of Hospital do Divino Es...