Objective: To describe the case of a 60-year-old male with a diagnosis of Hereditary Haemochromatosis (HHE) with homozygous C282Y mutations presenting with progressive parkinsonism, cognitive and psychiatric abnormalities following a hypoxic brain injury.

Background: Studies have failed to establish a causal relationship between HHE and movement disorders. Quantitative susceptibility mapping has shown increased iron deposition in caudate, putamen, pulvinar, substantia nigra, red and dentate nuclei compared to healthy controls. Males with genetic predisposition to HHE have been shown to have a 1.80-fold increased risk of developing a movement disorder. There is no link between HHE variants and Parkinson’s disease. Cystic encephalomalacia and white matter changes are common long term findings in HIE. In this case we hypothesize that hypoxic injury to the brain accelerated brain iron accumulation and gave rise to the progressive symptoms.

Method: A 60 year old male was admitted to the ICU with a cardiac arrest arising out of complications from a pharyngeal abscess, 3 years back. He was treated and slowly recovered. He was sent for rehabilitation for spasticity and mobility problems. He had good recovery with physiotherapy and occupational therapy and was able to mobilize with a frame. Following discharge he had slow worsening and developed parkinsonism (left sided rest tremor, overall slowing and gait initiation problems) and progressive worsening of his mobility. He also reported cognitive and behavioural problems. He was tried on Levodopa with good response but was limited due to side effect of aggravation of his restless leg syndrome and hallucinations. He is currently living in a care home with support from multi-disciplinary teams.

Results: MRI around the time of the injury showed minimal white matter T2 hyperintensities and after 3 years showed symmetrical iron deposition in caudate, putamen and dentate nuclei. He has known homozygous C282Y mutations. He had normal serum iron but a high ferritin (3647ug/L). Ferriscan showed a normal i.e. 1mg/g of liver iron concentration showing that his venesection therapy was working.

Conclusion: Brain iron accumulation can be an important long term sequelae giving rise to progressive neurological symptoms in patients with pre-existing haemochromatosis. Longitudinal studies are needed following up people with HHE with a brain insult.

SWI showing iron deposition in basal ganglia.

T2 Hypointensities in bilateral basal ganglia.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/accelerated-brain-iron-accumulation-secondary-to-hypoxia-in-a-patient-with-hereditary-haemochromatosis-with-homozygous-c282y-mutations/