Hort A, Kurlemann G
Bereich Neuropädiatrie, Universitäts-Kinderklinik Münster.
Monatsschr Kinderheilkd. 1993 Feb;141(2):107-9.
We report about an unusual development of a hereditary photodermatosis in an almost 11-year-old girl. At the age of 11 months the first symptom was a profuse solar inflammation of the skin. By the beginning of the third year neurological symptoms appeared with an ataxic gait, dysarthria, areflexia, asynchronism and bilateral pes cavus. All findings in the following progress demonstrated an intense progression with an intermittent aggravation during summer. Analysis of chromosomes revealed a high number of chromosomal breaks and a high SCE rate (sister chromatid exchange). Finally we diagnosed a De-Sanctis-Cacchione-syndrome.
我们报告了一名近11岁女孩遗传性光皮肤病的不寻常发展情况。11个月大时，首个症状是皮肤出现严重的日晒炎症。到第三年初，出现神经症状，表现为共济失调步态、构音障碍、反射消失、动作不协调和双侧高弓足。在接下来的病程中，所有症状都呈强烈进展，夏季会间歇性加重。染色体分析显示有大量染色体断裂和高姐妹染色单体交换率（SCE）。最终，我们诊断为德-桑蒂斯-卡乔内综合征。
