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FDG-PET findings in patients with galactosaemia

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

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 impairment and tremors. No study has explored changes in cerebral glucose metabolism in patients with galactosaemia. Five patients with galactosaemia had ages ranging from 20 to 40 years (mean age 28 years) and eight similarly aged controls received brain [18F]fluorodeoxyglucose (FDG) positron emission tomography (PET) scans. PET scans were analysed using a previously 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 mapping (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, calcarine cortex, superior frontal cortex, and superior parietal cortex when compared with controls. Significant 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 neuropsychological deficits in these patients. PET brain scans may be of value in galactosaemia patients to evaluate for dysfunction.

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Authors and Affiliations

  1. Division of Nuclear Medicine, Department of Radiology, The University of Pennsylvania School of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA

    J. G. Dubroff, N. A. Wintering, A. Alavi & A. B. Newberg

  2. Section of Metabolism, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

    C. Ficicioglu

  3. Metabolic Research Laboratory, The Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

    S. Segal

  4. Department of Radiology, Nuclear Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Room 110 Donner Building, Philadelphia, PA, 19104, USA

    A. B. Newberg

Authors
  1. J. G. Dubroff
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  2. C. Ficicioglu
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  3. S. Segal
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  4. N. A. Wintering
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  5. A. Alavi
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  6. A. B. Newberg
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Corresponding author

Correspondence to A. B. Newberg.

Additional information

Communicating editor: Michael Gibson

S. Segal deceased.

Competing interests: None declared

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Dubroff, J.G., Ficicioglu, C., Segal, S. et al. FDG-PET findings in patients with galactosaemia. J Inherit Metab Dis 31, 533–539 (2008). https://doi.org/10.1007/s10545-008-0806-0

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  • DOI: https://doi.org/10.1007/s10545-008-0806-0

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