BACKGROUND Arterial thrombosis, that too in aorta is rare in neonates. CASE CHARACTERISTICS A 4-day-old presented with non-recordable BP in lower limbs. Doppler ultrasonography of abdomen revealed aortic thrombus. OBSERVATION Serum homocysteine level was elevated (25.5 umol/L). OUTCOME Thrombus resolved with subcutaneous LMW heparin therapy for 2 weeks. MESSAGE Congenital classic homocy...

Several inherited metabolic disorders have been associated with stroke particularly in newborns, children, and young adults. In part 1, we discussed the genetics, stroke pathophysiology, clinical presentation, diagnosis, and treatment of Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2, we overview homocystinuria, organic acidurias, a...

Classic homocystinuria is a rare autosomal recessive disorder of methionine metabolism resulting from deificiency cystathionine beta-synthase that involved in transsulfuration homocysteine. The caused by mutations CBS gene. Lack enzyme associated with accumulation homocysteine induce various toxicities, e.g. endothelial dysfunction and increased risk thrombosis. Clinical manifestations classic ...