Browsing by Author "Azevedo, Ana"
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- Difficult management of Pediatric Acute Q FeverPublication . Costa Figueiredo, Rafael; R. Monteiro, Diana; Rebelo, Ana Isabel; Azevedo, Ana; Freitas de Oliveira, Sara; Tavares, SaraIntroduction: Q fever, a zoonosis caused by Coxiella burnetti, is relatively rare in the pediatric population. The disease is often asymptomatic or with mild clinical presentation in children. Case report: A four-year-old boy with persistent fever, severe anemia, and positive IgM for Coxiella burnetti was treated with trimethoprim-sulfamethoxazole and azithromycin, with no improvement. After polymerase chain reaction confirmation, he completed 14 days of doxycycline, with good response. After eleven months, the child remains asymptomatic. Discussion: Despite having a usually mild presentation, the severe clinical progression and lack of response to initial antibiotic therapy in this case prompt the use of doxycycline, a non-consensual drug in younger ages, with good results. New recommendations endorse the use of this drug for short periods at any age.
- Non-alcoholic fatty liver disease associated with hypobetalipoproteinemia: report of three cases and a novel mutation in APOB genePublication . Rodrigues, Joana; Azevedo, Ana; Tavares, Susana; Rocha, Cristina; Silva, Ermelinda SantosBackground: Non-alcoholic fatty liver disease, the leading cause of chronic liver disease in children, is defined by hepatic fat infiltration >5% of hepatocytes, in the absence of excessive alcohol intake, evidence of viral, autoimmune or drug-induced liver disease. Conditions like rare genetic disorders must be considered in the differential diagnosis. Case Report: Two male brothers, and a non-related girl, all overweight, had liver steatosis. One of the brothers and the girl had elevated transaminases; all three presented with low total cholesterol, low density lipoproteins and very low density lipoproteins cholesterol levels, hypotriglyceridemia and low apolipoprotein B. A liver biopsy performed in the brother with citolysis confirmed steatohepatitis and the molecular study of apolipoprotein B gene showed a novel homozygous mutation (c.9353dup p.Asn3118Lysfs17). Patients with cytolysis lost weight, however liver steatosis persists. Conclusion: Fatty liver disease might be a consequence of hypobetalipoproteinemia. Evidence is scarce due to low number of reported cases.