porencephaly

Introduction

cyst or cavity in the cerebral hemispheres

Classification

• type 1
  • usually unilateral
  • results from focal destructive lesions after 12th week of gestation
    • fetal vascular occlusion
    • vascular infections
    • traumatic disorders
      • birth trauma
• type 2 (schizencephalic porencephaly)
  • usually symmetric & represents a primary defect or arrest in the development of the cerebral ventricles

Epidemiology

rare

Pathology

• cyst or cavity in the brain may contain CSF

Genetics

• associated with defects in COL4A1

More general terms

• neural tube defect
• cephalic malformation

More specific terms

• hydrancephaly
• schizencephaly

Database

• OMIM: https://mirror.omim.org/entry/175780