Chediak-Higashi syndrome usually occurs in albinoid siblings born of consanguinous parents. It is characterized by a lymphomatous development and multiple infections resulting in early death. Typical cytoplasmic inclusion bodies are present in many of the leukocytes throughout the body. For the first time the presence of these inclusion bodies within the globe is being shown.
History of the Concept
The concept of the Chediak-Higashi syndrome was outlined by Sato1 in 1955. After reviewing Chediak's2 report of an involved family in Cuba in 1952 and Higashi's3 paper on a similar family involvement in Japan, published in 1954, Sato, in the Tohoku Journal of Experimental Medicine suggested the name of the syndrome. He also listed its characteristic features as albinism, photophobia, early death of albinotic siblings, and characteristic (possibly pathognomonic) blood morphology. Sato concluded that the patient succumbs invariably to acute infection at an early age (1 to 6
JOHNSON DL, JACOBSON LW, TOYAMA R, MONAHAN RH. Histopathology of Eyes in Chediak-Higashi Syndrome. Arch Ophthalmol. 1966;75(1):84–88. doi:10.1001/archopht.1966.00970050086017
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