Dorndorf D, Wessel K, Vieregge P, Verleger R, Kömpf D
Neurologische Klinik, Universität zu Lübeck.
Nervenarzt. 1991 Oct;62(10):641-4.
Neurological manifestations of xeroderma pigmentosum, a rare autosomal recessive neurocutaneous syndrome, are variable. The association with progressive mental retardation, usually with onset in childhood, is well known. We present a case of x.p. with progressive presenile dementia. This combination has, to our knowledge, not yet been reported in the literature. Although no hints on another aetiology have been found, the coincidental combination of x.p. with M. Alzheimer has to be taken into consideration. CT scan and MRI showed a marked cerebral atrophy.
着色性干皮病是一种罕见的常染色体隐性神经皮肤综合征,其神经学表现多种多样。它与通常在儿童期起病的进行性智力迟钝相关,这一点已为人熟知。我们报告一例患有进行性早老性痴呆的着色性干皮病患者。据我们所知,这种组合在文献中尚未见报道。尽管未发现其他病因线索,但仍需考虑着色性干皮病与阿尔茨海默病巧合并存的情况。CT扫描和MRI显示有明显的脑萎缩。