Neurologic manifestations are rarely described in hereditary
hemochromatosis (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 syndrome,
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
tremor, and
cervical dystonia. Patient 3, a 75-year-old woman, had a 5-year history of rapidly disabling
parkinsonian syndrome unresponsive to
levodopa. The diagnosis of HH was established in the three patients by
iron tests, evidence of a C282Y mutation, and, in two patients, by liver biopsy. High-field T2-weighted magnetic resonance imaging showed hyperintense signals in hemispheric white matter in patient 1, cerebellar
atrophy in patient 2, and cerebellar 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 association is one cause of the chronic acquired non-Wilsonian
hepatocerebral degeneration syndromes and represents a separate entity from
aceruloplasminemia. The pathophysiologic mechanism of
movement disorders in HH is unresolved. No
hepatic insufficiency and
portosystemic encephalopathy is evidenced 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.