PEDIATRICS Vol. 20 No. 3 September 1957, pp. 416-430
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CHÉDIAK-HIGASHI SYNDROME

A Lethal Familial Disease with Anomalous Inclusions in the Leukocytes and Constitutional Stigmata: Report of a Case with Necropsy

W. L. Donohue M.A., M.D.1 and H. W. Bain M.D., F.R.C.P. (Can.)1

1 Departments of Pathology and Paediatrics, The Hospital for Sick Children, Toronto, and the Faculty of Medicine, the University of Toronto

An additional fatal case of Chédiak-Higashi's syndrome, occurring in the firstborn of a Canadian family, is reported.

The parents were not related and the mother has subsequently given birth to a normal healthy child.

The clinical features of the Canadian case were in all essential features similar to those reported by Chédiak and Higashi. The hematologic abnormalities were identical.

In addition to findings referable to the blood dyscrasia, the post-mortem examination disclosed a peculiar type of "encephalomyelitis," probably secondary to a chronic degenerative process.

Submitted on February 14, 1957
Accepted on March 4, 1957




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D. B. Windhorst, A. S. Zelickson, and R. A. Good
Chediak-Higashi Syndrome: Hereditary Gigantism of Cytoplasmic Organelles
Science, January 7, 1966; 151(3706): 81 - 83.
[Abstract] [PDF]