Clinical and pathological features of familial late infantile Hallervorden-Spatz disease (HSD) are reported in two sisters, one of whom died at 11 years, from the Institute for Neurological Sciences, University of Siena, Italy. Clinical diagnosis was confirmed by the classical “eye of the tiger” sign in the MRI. The appearance of the globus pallidus on MRI correlated with the pathological findings, showing pallidal axonal spheroids and iron deposits without involvement of the substantia nigra. Clinically, retinitis pigmentosa, acanthocytosis, and neuromuscular involvement with increased serum creatine kinase were observed in both patients. HSD is classified as a form of neuroacanthocytosis, along with choreo-acanthocytosis, McLeod syndrome, and HARP syndrome. These diseases have the following clinical features in common but variable in frequency: 1) acanthocytosis, 2) extrapyramidal movements, 3) neuromuscular involvement, and 4) retinitis pigmentosa. [1]

COMMENT. Hallervorden-Spatz disease is a rare, progressive, and fatal degenerative disorder, with onset in late infancy, childhood or adulthood, characterized by a bizarre gait and speech disturbance, dystonic postures and choreo-athetotic movements, mental deterioration, retinitis pigmentosa, and occasionally, acanthocytosis. The coexistence of HSD and acanthocytosis in 3 sisters was reported by Swisher CN, Menkes JH, Cancilla PA and Dodge PR. Trans Am Neurol Assoc 1972;97:212. An autosomal recessive inheritance is suggested by familial cases. Diagnosis may be confirmed by the MRI and the “eye of the tiger sign” affecting the globus pallidus. For further reviews of HSD and related disorders, see Ped Neur Briefs Nov 1995;9:85, and Progress in Pediatric Neurology II, PNB Publ, 1994, p 477.