Early Diagnosis of Tuberous Sclerosis by Cranial Ultrasonography

Cranial ultrasonography has facilitated identification of intracranial lesions in infants, including hemorrhages, malformations, and neoplasms.1Early recognition of neuroectodermal disorders may also be possible with this neuroimaging technique. We detected ependymal nodules in an infant prior to the appearance of typical lesions by computed tomographic (CT) scan and before the diagnosis of tuberous sclerosis (TS) was confirmed. REPORT OF A CASE A 6-week-old male infant entered Children's Hospital of the King's Daughters, Norfolk, Va, following the onset of simple partial motor seizure activity involving the left arm and left side of the face. He had been the product of an uncomplicated pregnancy, labor, and delivery. Family history did not show evidence of seizures, mental reterdation, or neuroectodermal disorders. On examination he measured 53 cm, weighed 3,800 g, and his head circumference was 39 cm. The anterior fontaneile was open and soft. Mild congenital ptosis and periorbital edema were noted.