A case report of Chediak-Higashi syndrome complicated with systemic amyloidosis and olivo-cerebellar degeneration.

The histopathological observations in the case of a 24 year old woman with Chediak-Higashi syndrome are described. There were characteristic features of cytoplasmic giant granules in various cells and lymphohistiocytic infiltration in various tissues. Amyloid deposits, which have not been reported previously in human Chediak-Higashi syndrome, were systemically noted and were immunohistochemically revealed to be AA type protein. Another rare complication, olivo-cerebellar degeneration, was observed in the central nervous system not associated with lymphohistiocytic infiltration. These complications may develop in long surviving patients with Chediak-Higashi syndrome.