Objective: To report a rare case of Huntington’s disease (HD) with MRI findings resembling neurodegeneration with brain iron accumulation (NBIA).

Background: HD and NBIA are both neurodegenerative disorders that present with cognitive decline and chorea. The neurological symptoms are similar but brain MRI usually differentiates these two disorders; routine brain MRI findings showing iron accumulation in the basal ganglia raises suspicion of NBIA. Previous studies showed iron accumulation in the brain in animal HD model, and elevated absolute iron levels in the basal ganglia of post-mortem brain at the end-stage of HD patients as well. Furthermore, MRI technique using R2 or R2* mapping has recently shown iron deposition in the basal ganglia in HD patients. However, NBIA-like MRI findings in HD patients on routine MRI is very rare.

Method: Case report.

Results: A 39-year-old man was admitted to our hospital with cognitive decline and chorea which developed since his early 30s. Brain MRI showed atrophy of bilateral caudate and hypointensities in bilateral caudate, putamen, globus pallidus, substantia nigra, red nucleus and dentate nucleus on T2WI and T2*WI. Genetic testing revealed both heterozygous CAG repeat expansion (54/23) in the HTT gene and heterozygous p.Lys1010Thr mutation in the exon 13 of the ATP7B gene, while serum ceruloplasmin and urine copper levels were normal, suggesting a carrier of Wilson’s disease. Neither known mutation nor rare variant was found in the causative gene of NBIA1-8, aceruloplasminemia, Mucolipidosis IV and FAHN by exome sequencing. Acanthocytosis was not identified on peripheral blood smear. Familial history of HD in his uncle was subsequently confirmed.

Conclusion: We report a rare patient with HD showing NBIA-like MRI findings. Long CAG expansion in the HTT gene or heterozygous mutation in the ATP7B gene may be associated with these MRI findings. Our case suggests that the presence of NBIA-like MRI finding may not exclude the diagnosis of HD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/nbia-like-mri-findings-in-a-patient-with-huntingtons-disease/