Presentation
Congenital nystagmus bilaterally - rhythmic oscillations/tremors in both eyes that occur independently from normal eye movements
Patient Data
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There is a hypoplastic corpus callosum particularly in the region of the body. The optic nerves and chiasm are markedly hypoplastic. While the anterior aspect of the septum pellucidum is present, there appears to be partial absence of the posterior aspect of the septum pellucidum. Pituitary gland is present but somewhat small in size. There is no schizencephaly.
Case Discussion
This is a case of septo-optic dysplasia. Clinically, the patient is legally blind and has continuing panhypopituitarism secondary to his septo-optic dysplasia. He takes regular doses of hydrocortisone, testosterone, and levothyroxine.
Co-authors:
Alannah McCann