Severe early basal ganglia hypometabolism in neurodegeneration with brain iron accumulation


Neurodegeneration with brain iron accumulation (NBIA) is a group of rare genetic neurological disorders characterized by iron deposits in the basal ganglia. Apart from the iron accumulation identified on MRI, the role of imaging modalities is limited [1]. Here we present the metabolic findings in a 45-year-old man with NBIA. After a 14year history of psychiatric symptoms, the patient was referred to our institution for cognitive decline and parkinsonian symptoms, which had developed progressively during the previous 4 years. Brain MRI showed global atrophy and iron accumulation in the caudate and dentate nuclei, putamen, globus pallidus and substantia nigra, bilaterally, as signal hypointensities on the gradient echo T2 sequence (a). Further investigation by F-FDG PET revealed severe metabolic reduction exclusively in the basal ganglia, as shown on the PET/ MRI image (b), the PET image (c) and the BRASS software deviation image (d), that was retrospectively found to be already decreased on a previous PET scan performed 12 years earlier when the MRI scan was still normal. Cortical, thalamic and cerebellar metabolism was within the normal range, contrary to previous reports in NBIA [2, 3]. This metabolic pattern is typically associated with Huntington’s disease (HD), in which the caudate and putamen are already affected in the preclinical phase of the disease, with gradual cortical involvement [4]. Early iron accumulation in the basal ganglia has been found in HD as well, but the typical finding is marked atrophy of the caudate nuclei with ex-vacuo dilatation of * Ismini C. Mainta

DOI: 10.1007/s00259-016-3358-9

Cite this paper

@article{Mainta2016SevereEB, title={Severe early basal ganglia hypometabolism in neurodegeneration with brain iron accumulation}, author={Ismini C. Mainta and Claire Tabouret-Viaud and Jozef Horvath and M I Vargas and Valentina Garibotto}, journal={European Journal of Nuclear Medicine and Molecular Imaging}, year={2016}, volume={43}, pages={1741-1742} }