Pituitary stalk interruption syndrome - lissencephaly-pachygyria spectrum
Diagnosis almost certain
Presentation
Epilepsy with growth retardation.
Patient Data
Age: 10 years
Gender: Male
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/82189/annotated_viewer_json?iframe=true\u0026lang=us"}
There is an asymmetry of the cerebral hemispheres, the left is smaller than the right with thickening of the cerebral cortex mainly at the temporal/frontal lobes with enlarged CSF spaces, a smooth outer surface, and poorly formed gyri.
The MRI sequences at the pituitary region demonstrate:
- hypoplastic of the anterior pituitary gland
- ectopic posterior pituitary at the median eminence
- interrupted pituitary stalk
Case Discussion
MRI features suggestive of a pituitary stalk Interruption syndrome with lissencephaly-pachygyria spectrum.