Jordán J, Rodríguez C, Ortiz P, Pérez Higueras A, Pascual-Castroviejo I
An Esp Pediatr. 1986 Mar;24(3):165-70.
Authors describe twelve children with diagnosis of tuberous sclerosis (TS) within the first year. All children had seizures, being infantile spasms in 7 cases (58%). All but one showed severe mental retardation. Hypopigmented patches in 2 (16.6%) and retinal phakoma in one case (8.3%). Skull Rx were normal in all cases, while the CT showed early intracranial calcifications in the 100% of the patients and areas of hypodensity in the 50%. The CT is the most useful test for the early diagnosis of TS when the clinical diagnosis has not been firmly established.
作者描述了12例在出生后第一年内被诊断为结节性硬化症（TS）的儿童。所有儿童均有癫痫发作，其中7例（58%）为婴儿痉挛症。除1例之外，其余均表现为严重智力发育迟缓。2例（16.6%）有色素减退斑，1例（8.3%）有视网膜错构瘤。所有病例的颅骨X线检查均正常，而CT显示100%的患者有早期颅内钙化，50%的患者有低密度区。当临床诊断尚未明确时，CT是TS早期诊断最有用的检查。
