GRISCELLI DISEASE WITH CEREBRAL INVOLVEMENT

被引:32
作者
HARALDSSON, A [1 ]
WEEMAES, CMR [1 ]
BAKKEREN, JAJM [1 ]
HAPPLE, R [1 ]
机构
[1] UNIV HOSP NIJMEGEN,DEPT DERMATOL,6500 HB NIJMEGEN,NETHERLANDS
关键词
HYPOPIGMENTATION; IMMUNODEFICIENCY; GRISCELLI DISEASE;
D O I
10.1007/BF02093723
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
A 9-month-old Turkish boy was diagnosed as having Griscelli disease (Chediak-Higashi-like syndrome). Clinical signs consisted of silver-grey hair and a relatively light skin colour, recurrent episodes of fever, with or without detectable infections, increasing hepatosplenomegaly, hypotonia and motor retardation. Laboratory studies showed pancytopenia of varying degree but neither inclusion bodies nor vacuoles were seen in his leucocytes. Serum immunoglobulin levels were normal except for a IgG2 deficiency. In the mixed lymphocyte reaction the stimulation capacity of the leucocytes was decreased. Microscopic examination of his hair and electron-microscopic examination of a skin biopsy further confirmed the diagnosis. Shortly before the diagnosis was made, the child developed cerebral symptoms with hemiparesis and convulsions. A CT scan suggested cell infiltration of the brain. A few weeks later the boy died of an infection.
引用
收藏
页码:419 / 422
页数:4
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