Subject(s)
Cerebral Hemorrhage/etiology , Cerebral Hemorrhage/physiopathology , Hemoglobin E/analysis , Humans , Prognosis , Protein C Deficiency/complications , Protein C Deficiency/diagnosis , Protein S Deficiency/complications , Protein S Deficiency/diagnosis , Risk Assessment , beta-Thalassemia/complications , beta-Thalassemia/diagnosisABSTRACT
A 10-yr-old HbE/Beta thalassemia child who developed subacute to chronic occipitotemporal hemorrhagic infarct with smaller chronic infarct with gliotic changes in the left frontal periventricular white matter. Genetic tests showed that patient was positive for HbE and IVS1-5 mutation and was negative for thrombogenic mutations. Hemorrhagic infarct was confirmed by magnetic resonance imaging study. Antigenic levels of Protein C and Protein S were low. Based on these outcomes, it was concluded that Protein C and Protein S deficiency were the causative factor for developing hemorrhagic infarct in the HbE/ Beta thalassemia patient.
Subject(s)
Cerebral Hemorrhage/diagnosis , Cerebral Hemorrhage/etiology , Cerebral Infarction/diagnosis , Cerebral Infarction/etiology , Child , Humans , Magnetic Resonance Imaging , Male , Protein C Deficiency/complications , Protein C Deficiency/diagnosis , Protein S Deficiency/complications , Protein S Deficiency/diagnosis , beta-Thalassemia/complicationsABSTRACT
We describe a patient with protein C deficiency who presented with subacute intestinal obstruction due to ischaemic small bowel stricture. The patient also had left sided ileofemoral thrombosis. Venous thrombosis at unusual sites especially if associated with deep vein thrombosis of lower limb warrants a thorough screen for underlying thrombophilia. This, however, is a rare cause for ischaemic small bowel stricture.
Subject(s)
Acute Disease , Adult , Diagnosis, Differential , Humans , Intestinal Diseases/etiology , Intestinal Obstruction/diagnosis , Ischemia/etiology , Male , Mesenteric Veins/pathology , Protein C Deficiency/diagnosis , Thrombophilia/diagnosis , Venous Thrombosis/complicationsABSTRACT
Acidente vascular cerebral Isquêmico (AVCI) na infância é relativamente raro, de conhecimento ainda obscuro, e com etiologia multifatorial. Pode causar grave impacto na criança e ser a primeira manifestação de doença sistêmica. O subdiagnóstico ainda é comum e são praticamente inexistentes as pesquisas sobre o assunto no nosso meio. Desordens protrombóticas têm sido descritas como importantes fatores causais do evento isquêmico na infância. Foram estudados 46 pacientes de zero a 18 anos, com diagnóstico de AVCI, no período de março/2002 a setembro/2003. Exames laboratoriais, incluindo proteínas de coagulação e ecocardiograma foram realizados. AVCI neonatal ocorreu em 35% dos casos. Crise focal e hemiparesia foram os sintomas iniciais mais freqüentes; 40% dos casos apresentaram patologia prévia. Anormalidades nas proteínas S e C ocorreram em 22% e 17% da amostra. Alterações associadas, principalmente as que geram um estado hipercoagulável, indicam que mais de um fator de risco pode causar essa doença na infância.