Closed-lip schizencephaly with a focal cortical dysplasia

Case contributed by Ammar Haouimi
Diagnosis possible

Presentation

Epilepsy.

Patient Data

Age: 30 years
Gender: Female

The MRI sequences demonstrate:

  • an abnormal grey matter extending from the left frontal cortex to the body of the lateral ventricle with a slight indentation of the ventricular wall, in keeping with a closed-lip schizencrphsly with polymicrogyria
  • there is an adjacent cortical thickening extending from the cortex to the ventricle of low signal on T1, high signal on T2/FLAIR, and DWI. The mean ADC value at the lesion was 1.019 × 10−3 mm2/s higher than that measured at the contralateral normal region (0.742 × 10−3 mm2/s) with blurring of the grey/white matter junction and abnormal adjacent gyri and sulci, indicating most likely an associated focal cortical dysplasia
  • absent septum pellucidum with small optic chiasma which may represent an associated septo-optic dysplasia.

 

Case Discussion

The MRI features are most consistent with left closed-lip schizencephaly with associated septo-optic dysplasia and focal cortical dysplasia.

 

Additional contributors: R. Bouguelaa, MD, Z.E Boudiaf, MD

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