RESUMEN
Isovaleric acidemia (IVA) is an inborn error of branched chain amino acid metabolism that may manifest as acute neonatal metabolic acidosis or as chronic intermittent form with developmental delay or recurrent episodes of acute metabolic acidosis. Early diagnosis is the key to prevent morbidity and mortality. Brain imaging abnormalities are rarely described in IVA. We report a case of chronic intermittent IVA with acute presentation in a 4-month-old infant who presented with acute metabolic acidosis. Brain magnetic resonance imaging (MRI) revealed symmetric signal intensity changes in bilateral lentiform nuclei with an unreported T1-weighted (T1W) symmetric hyperintense ring-like appearance in bilateral putamen.
RESUMEN
Antiphospholipid syndrome is characterized by recurrent arterial or venous thrombosis at any level of the vascular tree and the presence of circulating antiphospholipid antibodies. The syndrome may be idiopathic or secondary to an underlying autoimmune disorder. The disease is uncommon in children, and manifestations are diverse and underreported. We report the case of a 10-year-old boy who presented with features of pulmonary thromboembolism in the emergency department. Subsequently, he proved to have systemic lupus erythematosus with circulating antiphospholipid antibodies. He had no signs of systemic lupus erythematosus at presentation. In conclusion, antiphospholipid syndrome should also be kept as a possibility in children presenting for the first time with pulmonary thromboembolism in the emergency department.