Clinical report of three patients with hereditary hemochromatosis and movement disorders

Neurologic manifestations are rarely described in hereditary hemochromatosi s (HH). We describe three patients with HH and movement disorders. Patient 1, a 69-year-old man, had a 13-year history of disabling cerebellar syndrom e, action tremor and myoclonus, and secondary dementia. Patient 2 was a 40- year-old man with a 9-year history of cerebellar syndrome, head and arm tre mor, and cervical dystonia. Patient 3, a 75-year-old woman, had a 5-year hi story of rapidly disabling parkinsonian syndrome unresponsive to levodopa. The diagnosis of HH was established in the three patients by iron tests, ev idence of a C282Y mutation, and, in two patients, by liver biopsy. High-fie ld T2-weighted magnetic resonance imaging showed hyperintense signals in he mispheric white matter in patient 1, cerebellar atrophy in patient 2, and c erebellar and cerebral atrophy in patient 3 and no significant hypointense signals in the three patients. Phlebotomies and symptomatic treatments did not change the course of the disease. Our cases are compared with the five previously reported observations of HH with movement disorders. This rare a ssociation is one cause of the chronic acquired non-Wilsonian hepatocerebra l degeneration syndromes and represents a separate entity from aceruloplasm inemia. The pathophysiologic mechanism of movement disorders in HH is unres olved. No hepatic insufficiency and portosystemic encephalopathy is evidenc ed in our cases, whereas the putative role of abnormal iron load remains to be ascertained. HH should be investigated more systematically in patients with movement disorders.