Trinidad J C, Iraburu M, Martínez A, Espiñeira M, Bañales T, Alvarez I
Servicio de Medicina Interna, Hospital Juan Canalejo, La Coruña.
An Med Interna. 1997 Jul;14(7):351-4.
We present tuberous sclerosis affecting all the members of a family, now and for three consecutive generations (probably four). A fortuitous study of cutaneous disease in one member led to diagnosis in all of them. A systematic study detected important visceral implication in all cases, mainly neurological, despite the fact only one of then showed related symptoms. We discuss the epidemiological and diagnostic aspects of an illness, which is widely underdiagnosed even today, despite the fact that detection is by sight.
我们报告了一个家族中三代(可能四代)人都患有结节性硬化症的病例。对家族中一名成员皮肤疾病的偶然研究促成了对所有成员的诊断。系统研究发现所有病例都有重要的内脏受累情况,主要是神经系统方面,尽管其中只有一人表现出相关症状。我们讨论了这种疾病的流行病学和诊断方面的问题,尽管这种疾病通过肉眼即可发现,但即便在今天仍普遍存在诊断不足的情况。