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Pituitary stalk interruption syndrome - lissencephaly-pachygyria spectrum

Case contributed by Ammar Haouimi
Diagnosis almost certain

Presentation

Epilepsy with growth retardation.

Patient Data

Age: 10 years
Gender: Male

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.

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