Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia

Abstract

Congenital disorders of glycosylation type Ia (CDG-Ia) are the most common type of CDG and are characterized by liver dysfunction, coagulation disorders, mental retardation, hypotonia, cerebellar dysfunction, polyneuropathy, seizures, and stroke-like episodes. Stroke-like episodes occur in 40–55% of cases, but their etiology is not fully understood. Although it has been stated that an epileptic process may cause the stroke-like episodes, there is no clear evidence of ischemic stroke. Here, we describe two stroke-like episodes in a patient with CDG. We performed radiological studies during each episode and obtained two distinct magnetic resonance imaging (MRI) findings: one revealed an ischemic stroke, and the other demonstrated marked edema followed by focal necrosis. This is the first direct evidence of ischemic stroke, and we report that another process may affect the etiology in the same patient.