Tuberous sclerosis: early neurologic manifestations and CT features in 18 patients.
Early clinical manifestations and radiologic features of tuberous sclerosis were studied in 18 consecutive patients encountered in the past two years, including two patients harboring an associated intraventricular tumor (giant-cell astrocytoma). Depigmented naevi rather than adenoma sebaceum, infantile spasms and intracranial calcifications were the cardinal early features in this present series, and CT scanning proved to be the single most useful diagnostic technique in the early detection of intracranial calcifications and therefore for the early diagnosis of this disorder. CT scanning was also useful in detecting the intraventricular tumors in the early stage before they became clinically manifest.
D000293:Adolescent; D000328:Adult; D002114:Calcinosis / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology*; D008297:Male; D013036:Spasms, Infantile / Q000209:etiology; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000175:diagnosis*