Three patients with Chediak-Higashi-Steinbrinck syndrome and clinical pictures resembling a spinocerebellar degeneration are older than any patients previously reported. Including this report, six of 38 cases in the English literature have presented evidence of similar neurologic pictures. Pathologic evidence of reported cases and animal work support the conclusion that a form of spinocerebellar degeneration is, to some extent, a regular part of the varied clinical and pathologic manifestations comprising this syndrome.
Sheramata W, Kott HS, Cyr DP. The Chediak-Higashi-Steinbrinck Syndrome: Presentation of Three Cases With Features Resembling Spinocerebellar Degeneration. Arch Neurol. 1971;25(4):289–294. doi:10.1001/archneur.1971.00490040015001
Neurology in JAMA: Read the Latest
Customize your JAMA Network experience by selecting one or more topics from the list below.