[An unusual course of hereditary photodermatosis: De-Sanctis-Caccione syndrome?].
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.
Hort
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A
Bereich Neuropädiatrie, Universitäts-Kinderklinik Münster.
Kurlemann
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G
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002493:Central Nervous System Diseases / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D009460:Neurologic Examination; D010787:Photosensitivity Disorders / Q000175:diagnosis / Q000235:genetics*; D012854:Sister Chromatid Exchange / Q000235:genetics; D013577:Syndrome; D014983:Xeroderma Pigmentosum / Q000175:diagnosis / Q000235:genetics*