Findings:
(1) bilateral optic nerve hypoplasia
(2) partial or complete agenesis of the septum pellucidum
(3) variable defect in the pituitary
(4) variable defect in other midline neurologic structures (agenesis of the corpus collosum, dysplasia of the anterior third ventricle, other)
Infants with pituitary defects may experience sudden death during febrile illness associated with acute hypocortisolism (acute adrenal crisis). Findings in these patients include (Brodsky et al, 1997):
(1) corticotropin deficiency
(2) thermoregulatory disturbances
(3) often diabetes insipidus
MRI can be used to evaluate the pituitary axis and septum pellucidum (Birkebaek et al).
(1) If both the pituitary and septum pellucidum are normal, then endocrine function is normal.
(2) If either or both is abnormal, then an endocrine dysfunction may be present in 22-56% of patients.
Patients with an endocrinopathy also have isolated tortuosity of retinal veins seen on fundoscopic examination.
