Detection of tuberous sclerosis in parents by magnetic resonance imaging

Abstract

We performed a detailed physical examination and MRI without gadolinium DTPA contrast in 60 couples with at least 1 child having tuberous sclerosis (TS). Eight parents had TS diagnosed by physical examination, family history, or various diagnostic procedures including MRI. Eight additional subjects and 6 control subjects had nonspecific high-signal white matter changes on MRI. MRI confirmed the diagnosis of TS in only 1 parent without physical findings of the disease, similar to the results of earlier studies using computed cranial tomography. CT may be less sensitive than MRI but is probably more specific for TS. Either CT or MRI may occasionally help substantiate the diagnosis of TS in a parent with few other findings. Both studies may need to be done in some parents to maximize the accuracy of genetic counseling.