抄録
We report a neonatal case of tuberous sclerosis (TS) presenting two types of tubers on cranial ultrasound (US) images. Multiple cardiac rhabdomyomas (CRs) were detected at 36 weeks’ gestation by intrauterine US. Postnatally, the patient had no heart problems. On her second day after birth, she experienced generalized tonic clonic seizures. On the same day, tubers, white matter lesions, and subependymal nodules were recognized on her brain magnetic resonance imaging (MRI) scan. In addition, cranial US showed multiple brain lesions. The patient fulfilled the diagnostic criteria for TS. Two types of tubers were detected on US: an incomplete ring resembling a half-eaten doughnut and a solid mass. These could be observed more clearly with a 12-MHz linear probe than with a 7-MHz sector probe. If the fetal US examination had been performed with suitable probes, her brain lesions could have been prenatally detected. When CRs can be detected on fetal US, neuroimaging enables a rapid diagnosis of TS. In addition to genetic testing and the morphology of tubers as seen on MRI, it is likely that the types of tubers seen on US facilitate forecasting of the postnatal severity of the neuronal manifestations of TS.
