Michel J M, Diggle J H, Brice J, Mellor D H, Small P
Dev Med Child Neurol. 1983 Apr;25(2):239-44. doi: 10.1111/j.1469-8749.1983.tb13748.x.
Two half-brothers with tuberous sclerosis (TS) presented with polycystic kidneys in early childhood, before the classical stigmata became apparent. Their father shows no evidence of the disease. The older boys subsequently developed adenoma sebaceum at nine years and the younger boy developed infantile spasms. Hypertension occurred in both cases but neither showed evidence of renal failure. Extensive renal cyst formation in TS is rare, but when it does occur it differs from both infantile and adult-type polycystic disease. TS should be considered in the differential diagnosis of renal enlargement, haematuria and hypertension in childhood.
两名患有结节性硬化症（TS）的同父异母兄弟在幼儿期就出现了多囊肾，此时典型的体征尚未显现。他们的父亲没有该疾病的迹象。年龄较大的男孩随后在9岁时出现了皮脂腺瘤，而年龄较小的男孩出现了婴儿痉挛。两人均发生了高血压，但均未出现肾衰竭的迹象。TS中广泛的肾囊肿形成很少见，但一旦发生，它与婴儿型和成人型多囊肾病均不同。在儿童期肾肿大、血尿和高血压的鉴别诊断中应考虑TS。
