Walsh & Hoyt: Diagnosis

The classic triad of seizures, mental retardation, and adenoma sebaceum is too restrictive criteria for the diagnosis of tuberous sclerosis. Diagnostic criteria are confounded by marked variability of the disease. No single sign is present in all affected patients, and there is no proof that any single clinical or radiographic sign is absolutely specific for TSC. In 1992, the National Tuberous Sclerosis Association proposed a diagnostic protocol based on primary, secondary, and tertiary features of the TSC. A diagnosis of definite tuberous sclerosis can be made in patients with one primary and two secondary or one secondary and two tertiary features of the tuberous sclerosis complex. A diagnosis of probable tuberous sclerosis is made in patients with one secondary and one tertiary or with three tertiary features of the disease. A diagnosis of suspected tuberous sclerosis is made in patients with one secondary or two tertiary features of the tuberous sclerosis complex. Histologic confirmation of a lesion is not necessary if the appearance is characteristic. Because retinal hamartomas are a primary feature of TSC, a complete ophthalmologic examination is of paramount importance in the diagnosis of definite, probable, and suspected tuberous sclerosis.