Four children had optic nerve hypoplasia with hypopituitarism, and their clinical picture varied with age. The newborn had apnea, hypotonia, seizures, hypoglycemia, and prolonged 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.
Patel H, Tze WJ, Crichton JU, McCormick AQ, Robinson GC, Dolman CL. Optic Nerve Hypoplasia With Hypopituitarism: Septo-Optic Dysplasia With Hypopituitarism. Am J Dis Child. 1975;129(2):175–180. doi:10.1001/archpedi.1975.02120390017004
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