Publications by authors named "Maria Fernanda Gomes"

Necrotising pneumonia (NP) is a potentially severe complication of community-acquired pneumonia characterised by necrosis of consolidated lung tissue. A 7-year-old boy and a 6-year-old boy are presented, both of whom had a complicated influenza infection which evolved into severe NP caused by . Both needed intensive care for invasive respiratory support.

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Methylmalonic aciduria children must follow an adequate diet with low protein intake and should be regularly monitored to prevent complications. Although skin lesions like acrodermatitis enteropathica are rare in this disease, their appearance should be correlated with possible low plasma isoleucine level and it can be a sign of decompensation.

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Neonatal diabetes is a monogenic form of diabetes. Herein, we report on a newborn presenting diabetic ketoacidosis at 17 days of life. A KCNJ11 mutation was identified.

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Rendu-Osler-Weber Syndrome also known as Hereditary Hemorrhagic Telangiectasia is a rare systemic fibrovascular dysplasia, with dominant autosomal inheritance. It is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformation and positive family history. There may be hematologic, neurologic, dermatologic and gastrointestinal complications.

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