Subdural Hemorrhage and Focal Motor Status Epilepticus in Cobalamin Metabolism Disorder

Abstract

We present a 9 month old girl, born full-term without complications, evaluated for developmental plateau since 6 months old. She was poorly interactive, tracked intermittently, and could not sit unsupported. Muscle tone and deep tendon reflexes were normal. Initial evaluation revealed hemoglobin of 52 g/L, prompting hospitalization. Homocysteine (42 μmol/L), C3-carnitine (5.96 μmol/L), Vitamin B12 (> 1106 pmol/L), and methylmalonic acid (15.82 μmol/L) were elevated. Methionine was markedly decreased (<5 μmol/L).