Riikonen R, Simell O
Department of Pediatrics, University of Turku, Finland.
Dev Med Child Neurol. 1990 Mar;32(3):203-9. doi: 10.1111/j.1469-8749.1990.tb16926.x.
The short- and long-term outcome and special problems of 24 children with infantile spasms and tuberous sclerosis (TS) was studied. The diagnosis of TS is frequently missed: white spots on the skin have to be carefully looked for. In the present study, these spots were always found, and calcifications or hypodense areas of the brain were revealed by CT scans before one year of age. In addition to epilepsy, manifestations of TS included: giant cell astrocytoma, iridic heterotopia, cardiac rhabdomyoma, brain cysts, polycystic kidneys with severe arterial hypertension, retinal phakomas, angiofibroma and white spots on the skin. Long-term outcome was poor. None of the children had normal intelligence and all but one had epilepsy, which was often intractable. Behavioural problems were common. The prognosis, in terms of later intelligence, epilepsy and behavioural problems, was worse than in those with 'idiopathic' infantile spasms or in those with simultaneous neurological disorders. An early diagnosis of TS in patients with infantile spasms clarifies the prognosis and avoids some of the hazards of ACTH therapy. TS children have a high relapse rate after ACTH therapy, so prolonged courses may be indicated.
对24例患有婴儿痉挛症和结节性硬化症（TS）的儿童的短期和长期预后及特殊问题进行了研究。TS的诊断常常被漏诊：必须仔细寻找皮肤上的白色斑点。在本研究中，这些斑点总是能被发现，并且在一岁前通过CT扫描发现了脑部钙化或低密度区域。除癫痫外，TS的表现还包括：巨细胞星形细胞瘤、虹膜异位、心脏横纹肌瘤、脑囊肿、伴有严重动脉高血压的多囊肾、视网膜错构瘤、血管纤维瘤以及皮肤上的白色斑点。长期预后较差。没有一个孩子智力正常，除了一个孩子外，所有孩子都患有癫痫，且癫痫常常难以控制。行为问题很常见。就后期智力、癫痫和行为问题而言，其预后比“特发性”婴儿痉挛症患者或同时患有神经系统疾病的患者更差。对患有婴儿痉挛症的患者早期诊断TS可明确预后，并避免ACTH治疗的一些风险。TS患儿在接受ACTH治疗后复发率很高，因此可能需要延长疗程。
