5 documents found, page 1 of 1
Practical and Multidisciplinary Review on Wilson Disease: The Portuguese Perspe...
Calinas, Filipe; Cardoso, Hélder; Carvalhana, Sofia; Ferreira, José; Gonçalves, Cristina; Magalhães, Marina; Miranda, Helena Pessegueiro; Presa, JoséWilson disease (WD) is a genetic disorder of copper metabolism caused by mutations in the ATP7B gene resulting in toxic copper accumulation in several organs. WD can manifest as liver disease, a progressive neurological disorder, a psychiatric illness, or a combination of these. Other clinical manifestations can also occur. Diagnosis is challenging and typically requires a range of biochemical tests, imaging, g...
Lithokelyphopedion.
Gonçalves, Carla; Pimentel, Ana; Leitão, Sara; Santos, Rui M; Costa, J NascimentoLithopedions are extremely rare conditions. Less than 300 cases were described worldwide. We report a case occurring in a woman of 77 years of age, admitted with dehydration, urinary tract infection and infected limb pressure ulcers. She had been recently admitted in a Surgery ward for incarcerated umbilical hernia. At the time the abdominal examination revealed a mass with about 10 cm in diameter, with petrous...
Tuberculose miliar e febre Q em doente imunocompetente
Simões, Sandra; Santos, Arsénio; Vaio, Teresa; Leitão, Sara; Santos, Rui M; Costa, NascimentoA tuberculose miliar é a forma de doença progressiva resultante da disseminação hematogénea maciça do Mycobacterium tuberculosis (MT). Afecta imunodeprimidos e idosos e tem manifestações clínicas insidiosas e inespecíficas. O caso clínico descrito refere -se a um homem adulto, sem imunodeficiência, com infecção simultânea por Coxiella burnetti e MT. A raridade desta associação e a sua forma de apresentação subl...
Acute myelogenous leukemia presenting as diabetes insipidus.
Calretas, Susana; Leitão, Sara; Cortesão, Emília; Espadana, Ana Isabel; Santos, Rui M; Porto, ArmandoCentral diabetes insipidus, is a syndrome characterized by the excretion of abnormally elevated volumes of diluted urine, due to the diminution of reabsorption of water in the collecting ducts, induced by the diminution of production of antidiuretic hormone. The involvement of the central nervous system in the leukaemia is frequent, but the association leukaemia/diabetes insipidus is rare. We describe a clinica...
Adult nesidioblastosis.
Branco, Vítor A; Santos, Rui M; Cipriano, M Augusta; Tralhão, Guilherme; Otero, M; Moura, José A; Sousa, F Castro; Porto, ArmandoIn adults, endogenous hyperinsulinemic hypoglycaemia is almost invariably due to insulinoma. The authors describe a 29 year old patient with repeated postprandial symptomatic hypoglycaemias and negative prolonged fast test. Distal pancreatectomy was performed, directed by positive arteriographic testing. Histological examination revealed pancreatic nesidioblastosis and no tumoral lesion. Distinct pathogenetic, ...