Papillary endothelial hyperplasia associated with cortical dysplasia

Area of Science:

• Neurology
• Pathology
• Pediatric Neurosurgery

Background:

• Intracranial papillary endothelial hyperplasia (PEH) is an exceptionally rare vascular tumor.
• Focal cortical dysplasia (CD) is a developmental malformation of the cerebral cortex often associated with epilepsy.

Observation:

• A 6-year-old girl presented with a skull mass and absence seizures.
• MRI revealed a subcortical mass lesion adjacent to abnormal-appearing cortex.
• Surgical resection of the mass confirmed PEH; adjacent cortical biopsies showed CD.

Findings:

• The resected lesion was a hemorrhagic vascular tumor consistent with PEH.
• Histological examination of the adjacent cortex revealed focal cortical dysplasia.
• The patient remained symptom-free post-surgery with no recurrence at 12 months.

Implications:

• The co-occurrence of PEH and CD suggests a potential causal relationship, challenging the notion that PEH always arises from a vascular origin.
• Abnormal vascularity in CD may predispose to vascular events like hemorrhage or thrombosis, potentially leading to PEH formation.
• This case highlights the importance of considering rare tumor associations in pediatric neurological disorders and may inform future diagnostic and therapeutic strategies.