Wong Virginia, Khong Pek-Lan
Department of Paediatrics, The University of Hong Kong, China.
J Child Neurol. 2006 Feb;21(2):99-105. doi: 10.1177/08830738060210020901.
We studied the magnetic resonance imaging (MRI) findings in a cohort of Chinese children with tuberous sclerosis complex to determine the relationship between age, sex, mental retardation, autism, epilepsy, infantile spasm, and early age at onset of seizures and the numbers and locations of tubers detected. We searched our tuberous sclerosis registry, established in 1985 (N = 44), and performed an analysis of children who had MRIs of the brain performed (n = 22). A neuroradiologist blinded to the clinical findings scored the MRIs according to the total number and site of the tubers. The following factors were analyzed: age, sex, presence of autism (n = 7), presence (n = 19) and severity of mental retardation (mild [n = 12], moderate to severe [n = 7]), presence of epilepsy (n = 21) or infantile spasm (n = 8), and age at onset of seizures less than 1 year (n = 10). There was no significant relationship between the number and site of tubers and the following factors: sex, autism, mental retardation, degree of mental retardation, epilepsy, history of infantile spasm, or age at onset of seizures less than 1 year. Only the presence of cortical tubers in the parietal regions had a significant relationship with the history of infantile spasm (P = .012). Using multiple regression analysis of all of the risk factors, only age is related to the number of tubers in the MRI (P = .047), and a history of infantile spasm is related to the presence of tubers in the parietal (P = .009) and occipital (P = .031) lobes. The associated comorbidities in tuberous sclerosis complex might be explained by more complex underlying genetic or pathologic issues rather than purely by the site of the cortical tubers. We suggest that a developmental approach, by analyzing the age at the appearance of tubers in both symptomatic and asymptomatic cases with the development of other neuropsychiatric comorbidities, should be undertaken to assess the causal relationship.
我们研究了一组患有结节性硬化症的中国儿童的磁共振成像（MRI）结果，以确定年龄、性别、智力迟钝、自闭症、癫痫、婴儿痉挛以及癫痫发作的早发年龄与所检测到的结节数量和位置之间的关系。我们检索了1985年建立的结节性硬化症登记册（N = 44），并对进行了脑部MRI检查的儿童（n = 22）进行了分析。一位对临床结果不知情的神经放射科医生根据结节的总数和部位对MRI进行评分。分析了以下因素：年龄、性别、自闭症的存在（n = 7）、智力迟钝的存在（n = 19）及其严重程度（轻度[n = 12]、中度至重度[n = 7]）、癫痫（n = 21）或婴儿痉挛（n = 8）的存在，以及癫痫发作起始年龄小于1岁（n = 10）。结节的数量和部位与以下因素之间无显著关系：性别、自闭症（n = 7）、智力迟钝、智力迟钝程度、癫痫、婴儿痉挛病史或癫痫发作起始年龄小于1岁。仅顶叶皮质结节的存在与婴儿痉挛病史有显著关系（P = 0.012）。对所有风险因素进行多元回归分析，仅年龄与MRI中结节的数量有关（P = 0.047），婴儿痉挛病史与顶叶（P = 0.009）和枕叶（P = 0.031）中结节的存在有关。结节性硬化症相关的合并症可能由更复杂的潜在遗传或病理问题解释，而非单纯由皮质结节的部位决定。我们建议应采用一种发育学方法，通过分析有症状和无症状病例中结节出现的年龄以及其他神经精神合并症的发展情况，来评估因果关系。
