Limited Utility for Head Ultrasounds in the Evaluation of Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is a genetic disorder leading to multiorgan disease. Three cerebral structural manifestations in TSC are tubers, subependymal nodules, and subependymal giant cell astrocytomas (SEGAs). Head ultrasound (HUS) has been established as a diagnostic tool for early head imaging. However, the utility of HUS in detecting TSC cerebral manifestations is not known.

We conducted a retrospective chart review of clinical brain imaging reports in TSC patients followed by the Cincinnati Children's TSC Clinic. From the clinical reports, the presence of TSC and other lesions were recorded. 373 individuals had either a HUS (N = 42) or a magnetic resonance imaging (MRI; N = 372) before 5 years of age.

Of the 42 patients with HUS, 24 were found to have completely normal HUS (57%). However, on the first MRI, only 3 had normal brain MRIs (13% of normal HUS). One had not had an MRI at the time of data collection and the other 20 had typical TSC lesions. No SEGA was seen on the HUS reports although 5 in the total cohort had a SEGA on MRI reports before 1 month of age. If the HUS was normal, there was a trend toward delaying the first MRI (0.2 ± 0.49 years vs 0.66 ± 0.98 years, P = 0.06).

Compared to the patient's initial MRI results, HUS underdetected the cerebral changes associated with TSC and a normal HUS tends to delay definitive MRI imaging. Thus, HUS has limited utility during the routine workup for TSC.