Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case

Background: Cases of congenital disorders of glycosylation (CDGs) are rare, and the occurrence of hemorrhagic infarction is also rare. The etiology is unclear.

Observations: A 3-year-old Asian boy with CDG type 1A was hospitalized with pneumonia. Consciousness disturbance and hemiplegia appeared after high fever and were associated with disseminated intravascular coagulation. Magnetic resonance (MR) images showed subcortical hemorrhagic infarction due to anterior superior sagittal sinus occlusion. Follow-up computed tomography revealed the enlargement of a right frontal lobe hematoma with a midline shift. The authors performed emergency craniotomy for hematoma evacuation. The postoperative course was favorable, with improvements in consciousness and hemiplegia. Patients with CDG type 1A have various types of coagulation disorders and sometimes develop several thrombotic and bleeding events; however, there has only been one reported case of CDG with concomitant intracranial hemorrhagic infarction. The authors detected sinus thrombosis on MR images for the first time in a patient with CDG.

Lessons: In patients with CDGs, abnormalities in the coagulation-fibrinolysis system can cause various neurological symptoms, such as intracranial bleeding, cerebral ischemia, and stroke-like episodes. In Asian infants with suspected cerebral venous sinus thrombosis, it is advisable to conduct examinations that include imaging modalities, such as MR venography and/or contrast-enhanced T1-weighted imaging, to confirm complications. https://thejns.org/doi/10.3171/CASE23729.