SummaryAlternating between hyper- and hypo-thyroidism may be explained by the simultaneous presence of both types of TSH receptor autoantibodies (TRAbs) – thyroid stimulating autoantibodies (TSAbs) and TSH blocking autoantibodies (TBAbs). It is a very rare condition, particulary in the pediatric age. The clinical state of these patients is determined by the balance between TSAbs and TBAbs and can change over time. Many mechanisms may be involved in fluctuating thyroid function: hormonal supplementation, antithyroid drugs and levels of TSAbs and TBAbs. Frequent dose adjustments are needed in order to achieve euthyroidism. A definitive therapy may be necessary to avoid switches in thyroid function and frequent need of therapeutic changes. We describe an immune-mediated case of oscillating thyroid function in a 13-year-old adolescent. After a short period of levothyroxine treatment, the patient switched to a hyperthyroid state that was only controlled by adding an antithyroid drug.Learning points Autoimmune alternating hypo- and hyper-thyroidism is a highly uncommon condition in the pediatric age.It may be due to the simultaneous presence of both TSAbs and TBAbs, whose activity may be estimated in vitro through bioassays.The clinical state of these patients is determined by the balance between TSAbs and TBAbs and can change over time.The management of this condition is challenging, and three therapeutic options could be considered: I-131 ablation, thyroidectomy or pharmacological treatment (single or double therapy).Therapeutic decisions should be taken according to clinical manifestations and thyroid function tests, independent of the bioassays results.A definitive treatment might be considered due to the frequent switches in thyroid function and the need for close monitoring of pharmacological treatment. A definitive treatment might be considered due to the frequent switches in thyroid function and the need for close monitoring of pharmacological treatment.
SummaryPerinatal morbidity and mortality rates for vasa previa are high when it is not diagnosed antenatally. In this report, a case of vasa previa in a twin pregnancy was diagnosed postnatally, which leads to complications with the first twin. Serial ultrasound during pregnancy did not diagnose a bilobed placenta, a velamentous insertion of the umbilical cord or vasa previa. At 37 weeks, vaginal bleeding was detected in the expulsive stage and vaginal-assisted delivery of both fetuses was undertaken. The first fetus was born pale and anaemic, and required a blood transfusion and therapeutic hypothermia. A high risk of vasa previa is associated with placentas with low-lying insertion, bilobed placentas, velamentous insertions of the umbilical cord, multiple pregnancy and pregnancies conceived after the use of assisted reproductive technologies. Transvaginal ultrasound screening with colour flow Doppler can allow antenatal diagnoses of vasa previa and an improved outcome. BACKGROUND
. Inclusion criteria: age < 18 years old and acute liver failure (INR ≥ 2 without vitamin K response and hepatocellular necrosis). Children with previous liver disease were excluded. Results: Fifty children were included, with median age of 24.5 months. The most common etiology under 2 years old was metabolic (34.6%) and above that age was infectious (29.2%). Forty six percent were submitted to liver transplantation and 78% of them survived. Overall mortality was 34%. Median referral time was 7 days in period A (n = 35) and 2 days in period B (n = 15; p = 0.006). Pediatric risk of mortality´s median was 14.7 in period A and 6.5 in B (p = 0.019). Mortality was 37% vs 26% in periods A and B, respectively (p = 0.474). Discussion and Conclusions: Overall mortality was similar to the observed in other European centers. Liver transplantation is in fact the most effective therapeutic option. After 2008, there was a reduction in referral time and cases severity on admission; however, mortality has not reduced so far.
SUMMARYNeonatal alloimmune thrombocytopaenia (NAIT) results from a fetomaternal incompatibility with maternal sensitisation against a fetal human platelet antigen (HPA) and antibodies transfer to the fetal circulation, leading to platelet destruction. The clinical presentation is variable and isolated intraocular haemorrhage is rare. We present the case of a male newborn, with intrauterine growth restriction, born at 29 weeks due to pre-eclampsia. He presented proptosis of the left eye, hyphaema and elevated intraocular pressure, with no other signs of haemorrhage. Severe thrombocytopaenia was found (27×10 9 /L). Perinatal infection and maternal thrombocytopaenia were excluded. Positive anti-HPA-1a and antihuman leucocyte antigen class I alloantibodies were found in the mother. Platelet crossmatch between the father's platelets and mother's plasma was positive. Platelet transfusions and intravenous immunoglobulin were given with favourable response. This case highlights an unusual presentation of NAIT, which should be suspected in the presence of severe thrombocytopaenia in the first 24-72 h of life. BACKGROUND
Introdução: A Dermatite herpetiforme é uma dermatose crónica, pruriginosa e polimórfica considerada o equivalente cutâneo da doença celíaca. Na população pediátrica é, com frequência, um diagnóstico difícil de evocar, quer pela sua raridade quer pelo polimorfismo das lesões cutâneas.Caso Clínico: Apresentamos um doente do sexo masculino de 8 anos, com lesões polimorfas nas superfícies extensoras dos membros evoluindo há 2 anos. A biopsia cutânea lesional demonstrou neutrófilos nas papilas dérmicas e a imunofluorescência directa peri-lesional revelou depósitos granulosos de IgA nas papilas dérmicas, estabelecendo o diagnóstico de dermatite herpetiforme. Estudo complementar subsequente confirmou a associação a doença celíaca e a adopção de uma dieta sem glúten levou à resolução clínica cutânea e da enteropatia.
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