RESUMO
Protein S (PS) is an antithrombotic plasma protein that plays essential roles in limiting thrombus formation in the anticoagulant system. Protein S deficiency is related with recurrent thrombosis. Here, the authors report a case of a term neonate with severe PS deficiency in year 2015, Imam Hospital, Tehran, Iran, that had seizures and intraventricular hemorrhage (IVH) since the age of 3 days. Nine-month follow-up did not show any developmental problems and MRI showed no hemorrhage.
RESUMO
BACKGROUND: Tuberous Sclerosis Complex (TSC) is an autosomal-dominant hereditary disorder. This syndrome is characterized by tumor-like malformations in several organs, as well as the heart. This report summarizes a case of TSC in a premature infant, born at 34 weeks' gestation with ascites. After birth, multiple cardiac mass, subependymal cysts and hypopigmented macules were detected. To our knowledge, this is the first case report of early onset of TSC with chylous ascites in Iran.
