Abstract
Of 17 patients with optic nerve hypoplasia, hypopituitarism (HP), or absent septum pellucidum (SP), 11 presented with features of HP, 5 with eye signs, and 1 with microcephaly. Of the 11 with signs of HP, 9 had neonatal problems: 7 with hypoglycemia, 3 with diabetes insipidus, and 1 with microgenitalia. All 5 with eye signs presented with decreased vision in infancy. The infant with microcephaly underwent a CT scan which demonstrated an absent SP and corpus callosum. The disorder did not appear to be heritable in any case, although there was a female preponderance (12 female, 5 male); 6 of 17 mothers were teenagers at conception. Pituitary hormone deficiencies and CT scan findings are shown below:
(*Only 2 patients have reached adolescence)
This experience demonstrates the need for an awareness of eye problems in neonates with HP and of HP in infants with optic nerve dysplasia. Whether this clinical triad represents one entity or several remains to be seen.
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Lafranchi, S., Hanna, C. 424 THE CLINICAL SPECTRUM OP OPTIC NERVE HYPOPLASIA, HYPOPITUITARISM, AND ABSENT SEPTUM PELLUCIDUM. Pediatr Res 15 (Suppl 4), 510 (1981). https://doi.org/10.1203/00006450-198104001-00435
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DOI: https://doi.org/10.1203/00006450-198104001-00435