Porencephaly

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Done

Parent item

Intracranial Anomalies

Definition

• Cystic degeneration and encephalomalacia and the formation of porencephalic cysts.

Pathology

• Cysts are typically lined by white matter

 

Aetiology

• perinatal cerebral ischemia

• trauma

• infection

• antenatal intraparenchymal hemorrhage

• Familial porencephaly: mutations in the COL4A1 gene (a COL4A1-related disorder) leading to fragile blood vessels causing antenatal/perinatal hemorrhagic strokes

Clinical features

• Asymptomatic, to profoundly impaired.

• Seizures

• Language impairment, intellectual disability, and motor deficits

Imaging

• T1: low signal intensity

• T2: high signal intensity

• FLAIR: suppression of fluid signal intensity

• DWI: no restricted diffusion

DDx

• Neuroglial cyst: no communication with the ventricles or the subarachnoid space

• Arachnoid cyst: extra-axial, with intact underlying grey matter

• Interhemispheric cyst

• Schizencephaly: it is lined with grey matter
• it is worth noting that some authors refer to schizencephaly as "true porencephaly"

• Holoprosencephaly: failure of normal hemispheric separation