Introduction: 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...
The idiopathic systemic capillary leak syndrome is characterized by recurrent episodes of hypovolemia, with an unknown cause, presenting as a distributive and hypovolemic shock, due to fluid loss to the extravascular space. We describe a case of a previously healthy seven-year-old boy, who started with prodromal symptoms (abdominal pain, fatigue, nausea), followed by a fluid extravasation phase, with hemoconcen...
We 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...