Browsing by Author "Miranda, A"
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- COARSE FACE, HYPOTONIA, AND NEURODEVELOPMENTAL REGRESSIONPublication . Miranda, A; Ezequiel, M; Luis, C; DupontI, J; GasparII, P; Vilarinho, L, et al.Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected. The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings. This report enhances the relevance of multidisciplinary approach and follow-up.
- Hemophagocytic lymphohistiocytosis, Leishmania and Epstein-Barr infection: an uncommon associationPublication . Costa, F; Miranda, A; Figueiredo, A; Correia, PIntroduction: Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of abnormal excessive immune activation, with signs and symptoms of excessive inflammation. Case report: 18-months-old girl admitted for persistent fever for the past two months. No other symptoms associated. History of a trip to the north of Portugal with contact with dogs. On examination: ill-appearance, pale and hepatosplenomegaly. Laboratory findings revealed pancytopenia progressively worst, associated with elevated ferritin (828ng/mL), hypertriglyceridemia (490 mg/dL), elevated soluble interleukin-2-receptor (11045 U/mL), which lead to the diagnosis of HLH. Etiologic investigation: IgM VCA-EBV positive (99U/mL), IgG VCA-EBV negative (<20U/mL), IgG EBNA negative (<3U/mL) and PCR for EBV negative; immunofluorescence and immunoblot serologies for Leishmania spp. were positive. Bone marrow examination did not reveal hemophagocytosis and PCR for Leishmania and EBV was negative. Treatment was initiated with lipossomic amphotericin with progressive improvement of the clinical condition. Discussion: Although serology for Leishmania is not the gold standard for diagnosis, it’s positivity in this case and the epidemiologic history lead to a favourable outcome.
- Persistent radiologic thoracic hypotransparency: A case report and review of the literature.Publication . Miranda, A; Marques, J; Ferreira, J; Cunha, F; Ribeiro, M; Ruivo, RA thymolipoma is a slow-growing, anterior mediastinal tumor, rare in childhood. The authors present a report of a 4-year-old girl with persistent right thoracic hypotransparency on the chest radiograph. Computed tomography and magnetic resonance imaging revealed an anterior, well-limited, mediastinal mass of heterogeneous density, with lipomatous and soft tissue density areas. The tumor was totally excised and the histopathologic findings revealed a thymolipoma. A year and a half after surgery, the child remains well. This report enhances the relevance of differential diagnosis in the presence of persistent radiologic thoracic hypotransparency.
- Registo oncológicoPublication . Gomes, A; Miranda, A