Cerebellar Dysfunction in Hand-Schuller-Christian Disease

Diabetes insipidus and growth retardation are common manifestations of hypothalamic involvement in patients with Hand-Schuller-Christian disease (HSCD). Involvement of other areas of the central nervous system (CNS) has been reported infrequently. We have studied 13 patients with HSCD. Four of these patients exhibited signs of extrahypothalamic CNS disease, manifested primarily by impairment of cerebellar function. One patient showed bilateral dentate nuclear calcification, a radiologic sign not previously reported in this disease. Although histologic examination was not possible, the nature of the clinical and radiologic signs suggest that intracerebellar involvement in patients with HSCD is more common than previously appreciated.