Case 19

Discussion:

Tuberous sclerosis (TS) is a neurocutaneous phacomatosis characterized by hamartomatous changes in the lungs, brain, kidneys, skin, heart, and other organs. TS is also known as Bourneville disease. The typical triad consists of seizure, adenoma sebaceum (facial angiofibroma), and mental retardation. The most common CNS lesions are the subependymal nodules but hamartomas are the hallmark of TS. They are tumors composed of normal cells but disorganized tissue, and can develop in any organ. The proportion that calcify has not be reliably determined. The number of calcified lesions increases with age. The hamartomas include angiomyolipoma of the kidney, cortical and subependymal tubers of the brain, and rhabdomyomas of the heart, among others. Lymphangioleiomyomatosis of the lung occurs in approximately 1%–4% of patients. In early childhood, the subependymal nodules are small and only some are calcified. Over time, more of these subependymal nodules become calcified, and by the age of 20 years, nearly 100% will be calcified. Other CNS lesions include cortical hamartomas (disorganized masses of neurons and other nervous tissue in the cortex), subependymal giant cell astrocytoma (a low-grade, slow-growing glioma that arises adjacent to the caudate head), and white matter hamartomas.

References:

• Bourneville DM. Sclerose tubereuse des circonvolutions cerebrales: idotie et epilipsie hemiplegique. Arch Neurol 1880; 1:81-91.
• Winship IM, Connor JM, Beighton PH. Genetic heterogeneity in tuberous sclerosis: phenotypic correlations. J Med Genet 1990; 27:418-421.
• Vogt H. Zur pathologie und pathologischen anatomie der verschiedenen idiotieformer. Monatsschr Psychiatr Neurol 1908; 24:106-150.
• O’Callaghan FJ, Osborne JP. Advances in the understanding of tuberous sclerosis. Arch Dis Child 2000; 83:140-142.Gomez MR. Diagnostic criteria. In: Gomez MR, eds. Tuberous sclerosis. 2nd ed. New York, NY: Raven, 1985; 9-20