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Sea-blue histiocytes, lymphocytic cytosomes, movement disorder and ⁵⁹Fe-uptake in basal ganglia

Hallervorden-Spatz disease or ceroid storage disease with abnormal isotope scan?

Division of Pediatric Neurology (Drs. Swaiman. Smith, and Trockl, University of Minnesota Medical School, Minneapolis, MN, and the Division of Nuclear Medicine (Dr. Siddiqui), Indiana University School of Medicine, Indianapolis, IN.

we studied two siblings with Hallervorden-Spatz syndrome. Fe-uptake and disappearance studies of the brain utilizing a narrow-field-of-view collimator indicated iron retention in the basal ganglia. Ferrokinetic studies utilizing ³¹Cr or ⁵⁹Fe are within normal limits. Hematologic abnormalities heretofore unreported in Hallervorden-Spatz syndrome included sea-blue histiocytes in bone marrow and cytoplasmic inclusions in circulating lymphocytes, consisting of vacuoles, fingerprint profiles, multilaminar profiles, granular osmiophilic deposits, curvilinear bodies, and increased numbers of tubular arrays. These findings demonstrate extracerebral manifestations of Hallervorden-Spatz syndrome that may aid diagnosis and shed light on the etiology.

Address correspondence and reprint requests to Dr. Swaiman, Division of Pediatric Neurology, University of Minnesota Medical School, 420 S.E. Delaware Street, Minneapolis, MN 55455.

Presented in part at the scientific session of the thirty-second annual meeting of the American Academy of Neurology, New Orleans, LA, May 1980.

Accepted for publication, June 24, 1982

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