Diagnosis

Tuberous sclerosis (Bourneville's disease)

Findings

Non-contrast CT of the head showed multiple areas of high attenuation corresponding to densely calcified subependymal nodules, as well as a calcified nodule in the left cerebellar hemisphere (figure 1). There was a prominent heterogeneous nodule on the right, adjacent to the interventricular foramen of Monro. A cavum septum pellucidum and cavum vergae also were present. Gadolinium-enhanced MRI of the brain showed multiple areas of decreased signal intensity within the subependyma on T2-weighted images, compatible with calcification (figure 2). There was marked cortical irregularity and pachygyria in the left posterior temporal and parietal regions in addition to the lesion near the foramen of Monro (figure 3). This heterogeneous lesion showed significant enhancement with gadolinium. There also were subtle areas of gray matter heterotopia noted in the subcortical white matter (figure 3). The patient had previously undergone CT scanning and renal ultrasound during his hospitalization for splenectomy due to polycythemia vera (figures 4A,4B). Review of his renal ultrasound showed several focal areas of increased echogenicity within the kidneys. His abdominal CT revealed multiple focal areas of decreased attenuation in both kidneys measuring -30 to -50 HU, compatible with angiomyolipomas. A review of all previous chest radiographs found no evidence of pulmonary parenchymal disease.

1. Gomez MR: Criteria for diagnosis in tuberous sclerosis. In: Gomez MR (ed): Tuberous Sclerosis, ed 2, pp 9-19. New York, Raven Press, 1988.
2. Seidenwurm DJ, Barkovich AJ: Understanding tuberous sclerosis. Radiology 183:23-24, 1992.
3. Elster AD: Radiologic screening in the neurocutaneous syndromes: strategies and controversies. Am J Neuroradiol 13:1078-1082, 1992.
4. Osborn A: Diagnostic Neuroradiology, p 98. St. Louis, Mosby, 1994.