Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism
H. Patel, W. J. Tze, J. U. Crichton, A. Q. McCormick, G. C. Robinson and C. L. Dolman
Four children had optic nerve hypoplasia with hypopituitarism, and their
clinical picture varied with age. The newborn had apnea, hypotonia,
seizures, hyopglycemia, and prolong jaundice. The young infant had
defective vision, behavioral delay, hypotonia, and seizures. Except for a
mildly receding lower jaw and a high-arched palate, the appearance of the
patients was not unusual. The fasting blood glucose level was mildly
depressed. In two cases the liver was palpable and results of liver
function tests were abnormal. The older child, who was blind and mentally
retarded, had growth failure. The extent of the pituitary hormone
deficiencies was variable, including diabetes insipidus. The septum
pellucidum was not invariably absent. Clinical and pathological findings
indicate that the brain lesion might be more diffuse than hitherto
recognized. Early recognition of this syndrome and timely intervention
might diminish serious sequels.
