Devroede G, Lemieux B, Massé S, Lamarche J, Herman P S
Département de Chirurgie, Faculté de Médecine, Université de Sherbrooke, Québec, Canada.
Gastroenterology. 1988 Jan;94(1):182-8. doi: 10.1016/0016-5085(88)90628-2.
Twelve patients, 5 from the same family, diagnosed consecutively to suffer from tuberous sclerosis were investigated for gastrointestinal polyps. Six patients had no clinical neurologic involvement. Nine had colonic polyps: in 5 patients, these were hamartomas, in 3 patients adenomatous polyps, and the ninth patient had hamartomas and adenomatous and villoglandular polyps. Hamartomatous polyps were identical to those found in the Peutz-Jeghers syndrome. However, in 1 patient they included neural structures and in another there were angiomatous and adipous structures in addition to colitis cystica profunda. Two patients with hamartomatous polyps had normal intelligence and no clinical neurologic symptoms. The evaluation of one kindred revealed the association of hamartomatous polyps of the colon with forme fruste of tuberous sclerosis in different members, but none had the typical disease. Tuberous sclerosis should thus be considered in the differential diagnosis of hamartomatous colonic polyps. Conversely, colonic endoscopy may be a useful adjunctive test in the diagnosis of tuberous sclerosis, particularly in the incomplete varieties of disease.
对连续诊断为患有结节性硬化症的12名患者（其中5名来自同一家族）进行了胃肠道息肉调查。6名患者无临床神经受累表现。9名患者有结肠息肉：5名患者的为错构瘤，3名患者的为腺瘤性息肉，第9名患者既有错构瘤，又有腺瘤性息肉和绒毛腺性息肉。错构瘤性息肉与黑斑息肉综合征中发现的息肉相同。然而，1例患者的错构瘤包含神经结构，另一例除深部囊性结肠炎外，还有血管瘤样和脂肪样结构。2例有错构瘤性息肉的患者智力正常，无临床神经症状。对一个家族的评估显示，不同家族成员中结肠错构瘤性息肉与结节性硬化症的顿挫型相关，但均无典型疾病表现。因此，在结肠错构瘤性息肉的鉴别诊断中应考虑结节性硬化症。相反，结肠内镜检查在结节性硬化症的诊断中可能是一项有用的辅助检查，特别是在疾病的不完全类型中。
