Cranial computed tomography in the phakomatoses

Abstract

The authors present the CT findings in their personal series of 77 cases of neurofibromatosis, 34 cases of tuberous sclerosis, and 16 cases of Sturge-Weber disease. These findings are extensively illustrated and compared with those reported in the literature.

Clinical and Therapeutic Features of Neurofibromatosis in Ghana

“…This finding is not consistent with the literature, which indicates equal sex distribution for NF disease [23]. This apparent higher female prevalence may be due to the smaller sample size which may not be representative of the general population.…”

Tuberous Sclerosis: Diagnostic and Surgical Considerations

“…The CT findings have been recently described in some detail by Gardeuret al [4], These authors point out that differential diagnosis of the CT features is rarely neces sary. Paraventricular calcifications, for example, may be seen in toxoplasmosis and cytomegalic inclusion disease but the distribution and character of the calcifications are usually distinct and they are commonly seen in early infancy.…”

Retinitis Pigmentosa Associated with Astrocytic Hamartomas of the Optic Disc

“…Histologically, optic disc drusen are laminated basophilic concretions always located in front of the lamina cribrosa, while astrocytic hamarto mas are composed of astrocytic cells wich develop more superficially in the papilla and adjacent retina [3]. Clinically, drusen appear as yellowhish grape-like clusters at the sur face of the disc, or as pseudopapilledcma in case of buried drusen [4]; astrocytic hamar tomas present as whitish or yellowish masses, which usually have a nodular or mulberry-like surface and have been de scribed as resembling a localized accumula tion of frog eggs or tapioca grains [5], Both lesions, often being calcified, have a characteristic and quite similar CT-scan ap pearance: drusen present the aspect of welldefined and punctual calcifications, strictly located within the optic nerve head [6,7]; CT-scan appearance of astrocytic hamar toma was first described by Daily et al [8] as a more voluminous mass; in our case, we did not observe a notable difference between CT-scan appearance of astrocytic hamarto mas and optic nerve head drusen previously reported [7], In other respects, CT scan al lows the diagnosis of intracranial abnormal ities of tuberous sclerosis, especially sube pendymal calcifications [9].…”