The Chédiak-Higashi syndrome: CT and MR findings.
Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive disorder postulated to result from lack of regulation of fusion of the primary lysosomes. In this report we present the MR and CT features of the brain in a patient with known CHS. These findings include diffuse atrophy of the brain with diffuse periventricular decreased density identified with CT, as well as increased signal on the T2-weighted images and lack of enhancement on the T1-weighted images in the periventricular and corona radiata regions.
Ballard, R; Tien, RD; Nohria, V; Juel, V
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