Pseudopapilledema and congenital disc anomalies in growth hormone deficiency

Abstract

Optic nerve hypoplasia is a congenital disc anomaly associated with growth hormone deficiency (GHD). Pseudotumor cerebri is an adverse event associated with growth hormone treatment (hGH) and manifested by increased intracranial pressure and papilledema. Pseudopapilledema is a generic ophthalmologic term encompassing several conditions, including congenital disc anomalies. It is benign and can be distinguished from papilledema by physical examination. The objective of this report is to document that congenital disc abnormalities, which can be confused with papilledema, occur in children with GHD. Three patients with GHD had fundoscopic examinations suggestive of papilledema and possibly pseudotumor cerebri. The abnormal optic nerves were characteristic of pseudo-papilledema, and appear to be a variant of optic nerve hypoplasia. The finding of optic disc abnormality during hGH may reflect pseudo-papilledema and not pseudotumor cerebri. Of equal importance, the reported patients indicate that the finding of pseudopapilledema in short children should suggest the possibility of GHD.