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Browsing by Author "Pina, R"

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  • Doença de Kikuchi-Fujimoto: uma causa pouco frequente de adenopatias cervicais
    Publication . Pina, R; Fonseca, I; Saldanha, MH
    2004Journal article Open access Show more
  • Ependimoma intramedular: Revisão da literatura – A propósito de um caso clínico
    Publication . Batista, R; Pina, R; Fonseca, I; Saldanha, MH
    2009Journal article Open access Show more
  • Phenotyping GABA transaminase deficiency: a case description and literature review
    Publication . Louro, P; Ramos, L; Robalo, C; Cancelinha, C; Dinis, A; Veiga, R; Pina, R; Rebelo, O; Pop, A; Diogo, L; Salomons, GS; Garcia, P
    Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4-aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage. We report the case of a boy, deceased at 12 months of age, with early-onset epileptic encephalopathy, severe psychomotor retardation, hypotonia, lower-limb hyporeflexia, central hypoventilation, and rapid increase in weight and, to a lesser rate, length and head circumference. He presented signs of premature pubarche, thermal instability, and water-electrolyte imbalance. Serum total testosterone was elevated (43.3 ng/dl; normal range <16), as well as serum growth hormone (7.7 ng/ml; normal range <1). Brain magnetic resonance imaging (MRI) showed decreased myelination and generalized brain atrophy, later confirmed by post-mortem examination. ABAT gene sequencing was performed post-mortem, identifying a homozygous variant c.888G > T (p.Gln296His),not previously described. In vitro analysis concluded that this variant is pathogenic. The clinical features of this patient are similar to those reported so far in GABA-T deficiency. However, distinct mutations may have a different effect on enzymatic activity, which potentially could lead to a variable clinical outcome. Clinical investigation aiming for a diagnosis should not end with the patient's death, as it may allow a more precise genetic counselling for the family.
    2016-09Journal article Open access Show more
  • Reninoma: uma causa rara de hipertensão arterial
    Publication . Pina, R; Barbosa, B; Morales, J; Correia, J; Teixeira, V; Furtado, AL; Saldanha, MH
    2004Journal article Open access Show more