Chronic Dystonia as Presenting Symptom of Hereditary Hemochromatosis

Abstract

Introduction: Hereditary hemochromtasis (HH) and movement disorders are sparingly reported. We describe an unusual diagnosis of HH from chronic dystonia Methods: A 57-year-old white female with PMH of dystonia for 6 years, nephrolithiasis with UTI, depression, and anxiety presented to our hospital with acute on chronic dystonia and flank pain. Her physical examination was significant only for dystonic movements of mouth and neck, and weak hip flexion bilaterally from pain. Her initial labs were within normal limits, including CBC, complete metabolic profile, and urine analysis. CT study to look for renal stones incidentally showed diffuse increased density of the liver parenchyma. Her previous MRI brain showed hemosiderin deposition in the basal ganglia and dentate nuclei of the cerebellum, suggestive of neuroferritinopathy. The clinical picture was suspicious for a liver storage disorder including hemochromatosis, hemosiderosis, Wilson’s disease, etc. Further labs were significant for serum Iron of 139 mcg/dL, TIBC of 200 mcg/dL with 70% iron saturation, ferritin level of 508 ng/mL, and normal levels of ceruloplasmin. Subsequently, her liver biopsy showed 4+ stainable iron in the hepatocytes, which was resulted as liver with mild periportal chronic inflammation and mild fibrous portal expansion.The diagnoses of HH were then confirmed with HFE gene analysis, which showed C282Y homozygote mutation. Results: The patient has been started on weekly phlebotomies with little improvement in her neurological symptoms. Repeat MRI brain showed progression of iron deposition in basal ganglia. Her dystonia symptoms are persisting. Her ferritin levels are improving with weekly phlebotomies. Conclusion: There have been only 13 cases with association of HH and movement disorders. HH is a common autosomal recessive systemic iron overload disorder in which excess iron accumulates in solid organs in the body such as heart, pancreas, liver, and pituitary. Our patient’s clinical features correlate with iron deposition seen in basal ganglia, seen in MRI brain. Progression of iron deposits in the brain indicate the phlebotomy is not the treatment of choice in these patients. Alternate treatment options need to be explored. Further studies are needed to assess if HH is underdiagnosed in movement disorder patients. Of note, classic symptoms of bronze diabetes, joint problems, were not present in these patients.