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Idiopathic hemochromatosis (IHC)

Dementia and ataxia as presenting signs

Department of Neurology (Dr. Jones), Lahey Clinic Medical Center, Burlington, MA, the C. S. Kubik Laboratory of Neuropathology and the Department of Pathology (Dr. Hedley-Whyte), Massachusetts General Hospital, Boston, MA, and Harvard Medical School (Drs. Jones and Hedley-Whyte), Boston, MA.

Idiopathic hemochromatosis (IHC) is a genetically determined impairment in control of iron absorption that results in excessive parenchymal iron deposition, particularly in the liver. Of patients with IHC, 50% have little or no chemical evidence of liver dysfunction. Cirrhosis may be clinically occult, but still cause a syndrome of chronic hepatocerebral degeneration. Two patients are reported with IHC and a syndrome of ataxia, rigidity, myoclonic jerks, and dementia. Other associated symptoms may include diminished libido, decreased hearing, peripheral neuropathy, and large joint disease. Because symptoms of IHC can be reversed by phlebotomy, appropriate laboratory studies should be considered to exclude IHC in any patient with unexplained dementia, encephalopathy, and gait ataxia.

Address correspondence and reprint requests to Dr. Jones, Department of Neurology, Lahey Clinic Medical Center, 41 Mall Road, Box 541, Burlington, MA 01805.

Presented in part at the thirty-fourth annual meeting of the American Academy of Neurology, Washington, DC, April 1982

Accepted for publication March 7, 1983.

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