Pediatric Endocrinology by Dennis M. Styne

Author:Dennis M. Styne
Language: eng
Format: epub
Publisher: Springer International Publishing, Cham

Congenital Defects of the CNS (See Chap. 3)

Congenital defects of the CNS are characteristically found in the neonatal period or soon thereafter. They may be associated with single hypothalamic–pituitary defects or more commonly multiple deficiencies.

Septo-optic Dysplasia

Septo-optic dysplasia (SOD), or the appearance of small, pale optic discs, is associated with impaired vision ranging from mild defects to blindness and is often found with horizontal or pendular (to and fro) nystagmus. Optic hypoplasia is to be differentiated from optic atrophy which may be an ominous sign of a tumor causing the degeneration of a previously normally formed optic disc. About 50 % of patients with optic dysplasia have absence of the septum pellucidum and a diagnosis of SOD. SOD may be the result of a mutation in the homeobox gene HESX (#1182238 septo-optic dysplasia). SOD is compatible with normal pituitary function in some patients, but deficiencies should be considered in all. SOD can also cause CPP.

Other midline defects of the central nervous system associated with pituitary deficiencies range from a simple cleft palate (6 % have growth hormone deficiency) up to holoprosencephaly.

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