ORIGINAL ARTICLE FDG-PET findings in patients with galactosaemia J. G. Dubroff & C. Ficicioglu & S. Segal & N. A. Wintering & A. Alavi & A. B. Newberg Received: 7 November 2007 / Submitted in revised form: 12 February 2008 / Accepted: 14 February 2008 / Published online: 20 May 2008 # SSIEM and Springer 2008 Summary Despite treatment with a galactose-restricted diet, many galactosaemia patients develop lifelong cognitive impairment, speech abnormalities and a gamut of neurological problems including cognitive impair- ment and tremors. No study has explored changes in cerebral glucose metabolism in patients with galac- tosaemia. Five patients with galactosaemia had ages ranging from 20 to 40 years (mean age 28 years) and eight similarly aged controls received brain [ 18 F]fluo- rodeoxyglucose (FDG) positron emission tomography (PET) scans. PET scans were analysed using a pre- viously validated template methodology of regions of interest (ROIs). Count ratios for each anatomical ROI were compared between the galactosaemic patients and the healthy controls. Statistical parametric map- ping (SPM) software was also used to further analyse the data. ROI analysis showed that galactosaemic patients had significant bilateral decreases in cerebral glucose metabolism in the superior temporal gyrus, medial occipital lobe, parietal lobe, cerebellum, calcar- ine cortex, superior frontal cortex, and superior parietal cortex when compared with controls. Signifi- cant increases were seen in the cingulate gyrus and temporal poles, bilaterally. SPM analysis revealed foci of decreased glucose metabolism in the caudate, cerebellum, precentral gyrus and cerebellar tonsils of galactosaemic patients. SPM also showed increased glucose metabolism in the subcallosal gyrus and claustrum. The results show significant abnormalities in cerebral function in patients with galactosaemia, particularly with widespread decreases in cortical metabolism. These abnormalities appear to be in brain regions that may be associated with the neuropsycho- logical deficits in these patients. PET brain scans may be of value in galactosaemia patients to evaluate for dysfunction. Abbreviations FDG [ 18 F]fluorodeoxyglucose ROI regions of interest SPM statistical parametric mapping PET positron emission tomography gal-1-P galactose 1-phosphate J Inherit Metab Dis (2008) 31:533–539 DOI 10.1007/s10545-008-0806-0 S. Segal deceased. Communicating editor: Michael Gibson Competing interests: None declared J. G. Dubroff : N. A. Wintering : A. Alavi : A. B. Newberg Division of Nuclear Medicine, Department of Radiology, The University of Pennsylvania School of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA C. Ficicioglu Section of Metabolism, The Children_s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA S. Segal Metabolic Research Laboratory, The Children_s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA A. B. Newberg (*) Department of Radiology, Nuclear Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Room 110 Donner Building, Philadelphia, PA 19104, USA e-mail: Andrew.newberg@uphs.upenn.edu