FAMILIAL SNEDDONS-SYNDROME

被引:17
作者
LOSSOS, A
BENHUR, T
BENNARIAH, Z
ENK, C
GOMORI, M
SOFFER, D
机构
[1] HADASSAH UNIV HOSP,DEPT MED GENET,JERUSALEM,ISRAEL
[2] HADASSAH UNIV HOSP,DEPT DERMATOL,IL-91120 JERUSALEM,ISRAEL
[3] HADASSAH UNIV HOSP,DEPT RADIOL,IL-91120 JERUSALEM,ISRAEL
[4] HADASSAH UNIV HOSP,DEPT PATHOL NEUROPATHOL,IL-91120 JERUSALEM,ISRAEL
关键词
SNEDDONS SYNDROME; LIVEDO RETICULARIS; ANTIPHOSPHOLIPID ANTIBODIES; GENETIC CEREBROVASCULAR DISORDER;
D O I
10.1007/BF00936890
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke, The diagnosis was confirmed by cerebral angiogram and skin biopsy, both showing the characteristic findings, Two of the patient's sisters were reported to have been similarly affected in the past. Her mother, two additional siblings and five of her seven children exhibited various vasospastic skin phenomena, Familial aggregation of this disorder may be common and a genetic basis may be involved in its pathogenesis.
引用
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页码:164 / 168
页数:5
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