Septo-optic dysplasia with aqueductal stenosis

Case contributed by Amro Omar
Diagnosis certain

Presentation

High blood pressure, color blindness and high free cortisol level.

Patient Data

Age: 35 years
Gender: Male

NECT shows absent septum pellucidum, small optic nerves and chiasm, there is associated chronic hydrocephalus changes involving the lateral and 3rd ventricles with sparing the 4th ventricle suggesting aqueductal stenosis.

Please note the asymmetric bulge of the right side of the pituitary gland on the right side.

Case Discussion

Septo-optic dysplasia is commonly associated with abnormal endocrine function, one should look for multiple pituitary deficiencies, which may explain the high cortisol level. This patient was advised to have an MRI of the pituitary region.

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