Sea-blue histiocytes, lymphocytic cytosomes, movement disorder and⁵⁹fe-uptake in basal ganglia: Hallervorden-spatz disease or ceroid storage disease with abnormal isotope scan?

We studied two siblings with Hallervorden-Spatz syndrome.⁵⁹Fe-uptake and disappearance studies of the brain utilizing a narrow-field-of-view collimator indicated iron retention in the basal ganglia. Ferrokinetic studies utilizing³¹Cr or⁵⁹Fe 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.