Pituitary stalk interruption syndrome - lissencephaly-pachygyria spectrum
Diagnosis almost certain
Presentation
Epilepsy with growth retardation.
Patient Data
Age: 10 years
Gender: Male
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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.