RESUMEN
Aicardi syndrome is a genetic disorder characterized by the triad of infantile spasm in flexion, callosal agenesis and ocular abnormalities (chorioretinal lacunae, coloboma of optic disc). We report a typical case of Aicardi syndrome with all the classical features.
Asunto(s)
Anomalías Múltiples/epidemiología , Agenesia del Cuerpo Calloso/epidemiología , Agenesia del Cuerpo Calloso/genética , Síndrome de Aicardi/epidemiología , Síndrome de Aicardi/genética , Anomalías del Ojo/epidemiología , Anomalías del Ojo/etiología , Femenino , Humanos , Lactante , Articulaciones/anomalías , Convulsiones/epidemiología , Convulsiones/etiologíaRESUMEN
Hemophagocytic syndrome (HPS) has been associated with infections, hematological malignancies and autoimmune conditions. Malaria is rarely reported to cause HPS. We report a case of an 11-month-old infant with fever, hepatosplenomegaly, pancytopenia, high serum ferritin, hypertriglyceridemia, and bone marrow hemophagocytosis, consistent with hemophagocytic syndrome. Gametocytes of plasmodium falciparum were identified on bone marrow aspiration. Rapid recovery was observed after treatment with antimalarials.