Browsing by Author "Cancelinha, C"
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- An 11-year-old boy with pharyngitis and cough: Lemierre syndromePublication . Mação, P; Cancelinha, C; Lopes, P; Rodrigues, FThe authors present the case of an 11-year-old boy with pharyngitis, treated with amoxicillin, that worsened on day 7, with cough, high fever and refusal to eat. Lethargy and respiratory distress were noted. Based on radiographic findings of bilateral infiltrates he was diagnosed with pneumonia and started on intravenous ampicillin and erythromycin. Two days later he complained of right-sided neck pain and a palpable mass was identified. An ultrasound showed partial thrombosis of the right internal jugular vein and a lung CT scan revealed multiple septic embolic lesions. Lemierre syndrome was diagnosed, antibiotic treatment adjusted and anticoagulation started. A neck CT-scan showed a large parapharyngeal abscess. His clinical condition improved gradually and after 3 weeks of intravenous antibiotics he was discharged home on oral treatment. This case illustrates the importance of diagnosing Lemierre syndrome in the presence of pharyngitis with localised neck pain and respiratory distress, to prevent potentially fatal complications.
- Phenotyping GABA transaminase deficiency: a case description and literature reviewPublication . Louro, P; Ramos, L; Robalo, C; Cancelinha, C; Dinis, A; Veiga, R; Pina, R; Rebelo, O; Pop, A; Diogo, L; Salomons, GS; Garcia, PGamma-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.
- Renal abscesses in childhood: report of two uncommon casesPublication . Cancelinha, C; Santos, L; Ferreira, C; Gomes, C