Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Pediatrics. 2011 Jan;127(1):e117-25. doi: 10.1542/peds.2010-0192. Epub 2010 Dec 20.
To describe presenting symptoms and signs according to age group in a cohort of 243 patients with tuberous sclerosis complex (TSC) and identify earlier symptoms and signs that did not lead to immediate diagnosis.
We performed a retrospective chart review for 278 patients with TSC who were examined at Children's Hospital Boston in Massachusetts and at the Herscot Center for Tuberous Sclerosis Complex, Massachusetts General Hospital. The presenting symptom or sign was the first symptom or sign to cause suspicion for TSC and lead to diagnosis. Missed symptoms or signs were those that were documented in the patient's chart but did not immediately lead to diagnosis.
There were 243 patients for whom there were sufficient data for inclusion in this study. Patients were diagnosed with TSC at ages ranging from birth to 73 years. The average age at diagnosis was 7.5 years. Of the patients, 81% were diagnosed before the age of 10. Diagnosis during adolescence and adulthood was not uncommon. The most common presenting symptoms and signs included new onset of seizures, history of seizures, infantile spasms, family history of TSC, cardiac rhabdomyomas, and hypopigmented macules. Of the patients, 39% reported missed symptoms or signs of TSC, most commonly seizures (including infantile spasms) and dermatologic features.
Many patients had symptoms or signs of TSC that did not lead to immediate diagnosis. Clinicians should be aware of the myriad potential presenting symptoms and signs of TSC. Early diagnosis may reduce morbidity and mortality.
根据年龄组描述 243 例结节性硬化症（TSC）患者的首发症状和体征，并确定未导致即时诊断的更早症状和体征。
我们对在马萨诸塞州波士顿儿童医院和马萨诸塞州总医院赫斯科特结节性硬化症中心接受检查的 278 例 TSC 患者进行了回顾性图表审查。首发症状或体征是引起 TSC 怀疑并导致诊断的首个症状或体征。遗漏的症状或体征是指在患者病历中记录但未立即导致诊断的症状或体征。
有 243 例患者有足够的数据纳入本研究。患者的 TSC 诊断年龄从出生到 73 岁不等。平均诊断年龄为 7.5 岁。其中 81%的患者在 10 岁之前被诊断出。青春期和成年期的诊断并不少见。最常见的首发症状和体征包括新发癫痫发作、癫痫发作史、婴儿痉挛、TSC 家族史、心脏横纹肌瘤和色素减退性斑片。39%的患者报告了 TSC 的遗漏症状或体征，最常见的是癫痫发作（包括婴儿痉挛）和皮肤特征。
许多患者的 TSC 症状或体征并未导致即时诊断。临床医生应意识到 TSC 可能存在多种潜在的首发症状和体征。早期诊断可能会降低发病率和死亡率。
