Werner H, Mirlesse V, Jacquemard F, Sonigo P, Delezoide A L, Gonzales M, Brunelle F, Fermont L, Daffos F
Service de Médecine et Biologie Foetale, Institut de Puériculture, Paris, France.
Prenat Diagn. 1994 Dec;14(12):1151-4. doi: 10.1002/pd.1970141208.
Tuberous sclerosis (TS) is an autosomal dominant disorder with a high rate of de novo mutation. The real difficulty is to ascertain the diagnosis and to give the neurological prognosis in each case. Prenatal diagnosis of TS is generally based on ultrasonographic signs of multiple cardiac tumours, i.e. rhabdomyomas. Recent progress in magnetic resonance imaging (MRI) enables the diagnosis in a large proportion of cases based on typical brain lesions. It may have a role in the prenatal management of TS, although MRI images seem to underestimate the anatomical findings. Two cases in which TS was diagnosed prenatally are presented with reference to the value of MRI in the prenatal management and comparison with anatomical findings.
结节性硬化症（TS）是一种常染色体显性疾病，新发突变率很高。真正的困难在于确定每例患者的诊断并给出神经学预后。TS的产前诊断通常基于多发性心脏肿瘤（即横纹肌瘤）的超声图像特征。磁共振成像（MRI）的最新进展使得能够基于典型的脑部病变在大部分病例中做出诊断。尽管MRI图像似乎低估了解剖学发现，但它在TS的产前管理中可能具有一定作用。本文通过两例产前诊断为TS的病例，阐述了MRI在产前管理中的价值，并与解剖学发现进行了比较。
