Optic Nerve Hypoplasia With Hypopituitarism

Abstract

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.

Optic nerve axons: life and death before birth

“…Pathology in a case 191 showed an absent posterior lobe of the pituitary gland, with an abnormal hypothalamus. The pituitary defects may occur in optic disc hypoplasia even without evidence of absence of the septum pellucidum.…”

“…134 ONH in maternal diabetes: Diabetic mothers have babies with a higher incidence of neurological anomalies, including optic disc hypoplasia. 133,[189][190][191] In children of diabetic mothers, the superior half of the disc may be most affected, the so-called superior segmental ONH, 190 SSONH or 'topless' optic discs ( Figure 22). It is usually accompanied by a relatively mild visual defect and the signs may be subtle.…”

Septooptic dysplasia (de Morsier syndrome).

“…This is thought to be due to a deficiency in human growth hormone, which is normally an antagonist to insulin efl'ect. 5 After the first year of life, another clinical effect of growth hormone deficiency rna~' be a growth delay. Adrenocorticotropic hormone and th yroid stimu.…”

Pituitary function in a patient with septo-optic dysplasia and pituitary dwarfism (Kaplan-Grumbach-Hoyt syndrome)

“…It is believed that the developmental disorder of the septum pellucidum and the anomaly of the optic nerve are caused by the same teratogenic agents (Ellenberg and Runyan, 1970;Brook et al, 1972). The joint appearance of GH insufficiency and diabetes insipidus in some patients indicates that hypopituitarism is of secondary, hypothalamic origin leading to deficient pituitary stimulation (Kaplan et al, 1970;Billson and Hopkins, 1972;Patel et al, 1975;Toublanc et al, 1976). It is debatable whether the mother's viral infection in the third month of pregnancy could have acted as a teratogenic agent.…”

“…Since the publication of this description septo-optic dysplasia and pituitary dwarfism is considered a syndrome including pituitary dwarfism, hypoplasia of the optic nerve and malformation of the prosencephalon. Further cases were described by Ellenberg and Runyan (1970), Brook et al (1972), Harris and Haas (1972), Billson and Hopkins (1972), Patel et al (1975) and Toublanc et al (1976).…”