Knobler R M, Neumann R A, Gebhart W, Radaskiewicz T, Ferenci P, Widhalm K
2nd Department of Dermatology, University of Vienna, Austria.
J Am Acad Dermatol. 1990 Aug;23(2 Pt 2):341-6. doi: 10.1016/0190-9622(90)70218-7.
A rapidly progressive disease with multiple organ involvement and symptoms of polyuria and polydipsia developed in a 32-year-old woman, with an initial presentation of xanthoma disseminatum. Within 6 months increasing visual impairment of the right eye developed; a computed tomographic scan revealed multiple cerebral and cerebellar lesions. Progress of her disease resulted in blindness of the right eye, internal hydrocephalus with involvement of both ventricles, and cerebellar ataxia. Ultrasound examination of the abdomen and a subsequent endoscopic retrograde cholangiopancreatographic examination revealed a xanthomatous gallbladder and liver involvement. The gallbladder and liver showed histologic changes compatible with xanthomatosis. The patient died 4 years after the appearance of skin lesions.
一名32岁女性患上了一种快速进展的疾病，伴有多器官受累以及多尿和多饮症状，最初表现为播散性黄瘤。在6个月内，右眼视力逐渐下降；计算机断层扫描显示大脑和小脑有多个病变。疾病进展导致右眼失明、双侧脑室受累引起的内部脑积水以及小脑共济失调。腹部超声检查及随后的内镜逆行胰胆管造影检查显示有一个黄瘤性胆囊和肝脏受累。胆囊和肝脏呈现出与黄瘤病相符的组织学变化。该患者在皮肤病变出现4年后死亡。
