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Browsing by Author "Rodrigues, V"

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  • Incontinentia pigmenti in the neonatal period
    Publication . Rodrigues, V; Diamantino, F; Voutsen, O; Cunha, MS; Barroso, R; Lopes, MJ; Carreiro, H
    Incontinentia pigmenti (IP) is a rare multisystem disease, X linked dominant disorder. As all X linked dominant diseases, it is usually male-lethal. Female newborn admitted to the neonatal intensive care unit on the first day of life was diagnosed as having probable herpetic infection with vesicular skin lesions distributed on upper right limb and inferior limbs. Family history showed that her 22-year-old mother had hypopigmented lesions on the lower limbs and her 13-month-old sister had hyperpigmented lesions on the trunk and limbs. In newborns, herpes infection emerges as the principal diagnosis of vesicular rash, due to the importance of precocious diagnosis and treatment. Other hypothesis must be considered in a newborn with vesicobullous rash, such as IP.
    2011Journal article Open access Show more
  • Severe megaloblastic anaemia in an infant
    Publication . Rodrigues, V; Dias, A; Brito, MJ; Galvão, I; Ferreira, GC
    Vitamin B(12) or cobalamin deficiency, a rare clinical entity in pediatric age, is found most exclusively in breastfed infants, whose mothers are strictly vegetarian non-supplemented or with pernicious anaemia. In this article, the authors describe a 10-month-old infant admitted for vomiting, refusal to eat and prostration. The infant was exclusively breastfed and difficulties in introduction of new foods were reported. Failure to thrive since 5 months of age was also noticed. Laboratory evaluation revealed severe normocytic normochromic anaemia and cobalamin deficit. A diagnosis of α-thalassemia trait was also made. Maternal investigation showed autoimmune pernicious anaemia. This case shows the severity of vitamin B(12) deficiency and the importance of adopting adequate and precocious measures in order to prevent potentially irreversible neurologic damage.
    2011Journal article Open access Show more
  • Síndrome linfoproliferativo A autoimune
    Publication . Rodrigues, V; Conde, M; Figueiredo, A; Vasconcelos, J; Dias, A
    A Síndrome Linfoproliferativo Autoimune (ALPS) é um defeito na apoptose dos linfócitos, com linfoproliferação crónica não maligna, linfadenomegalias e/ou esplenomegalia. São descritos os casos clínicos de dois rapazes de sete e 14 anos. O primeiro inicia aos três anos, febre, bicitopénia e linfadenopatias generalizadas e histologia ganglionar com hiperplasia folicular reactiva e hiperplasia paracortical. Reinternamento aos seis anos por herpes zoster e quadro clínico semelhante. Aumento dos níveis circulantes de IL-10 e uma tendência de aumento de Fas-L no plasma e soro. O segundo caso refere-se a um rapaz internado aos 13 anos por celulite da coxa e região glútea, anemia e neutropenia. Linfócitos T αβ+CD4-CD8- 3,1%. Biópsia ganglionar com hiperplasia paracortical. Ambas as crianças medicadas com micofenolato de mofetil com boa resposta. A ALPS é uma entidade diagnóstica subestimada que deve ser considerada perante linfoproliferação não maligna, autoimunidade e expansão anormal da população α/βCD3+CD4-CD8- (double-negative T cells>1%).
    2011Journal article Open access Show more