title: The value of positron emission tomography in the diagnosis and monitoring of late infantile and juvenile lipopigment storage disorders (so-called Batten or neuronal ceroid lipofuscinoses).
abstract: Positron Emission Tomography (PET) with 2-deoxy-2 [18F]-fluoro-D-glucose provides a measure of functional brain activity, particularly in the dendritic field. In CLN3 (juvenile neuronal ceroid lipofuscinosis or juvenile Batten disease, with fingerprint inclusions) hypometabolism slowly spreads from calcarine to anterior areas, sparing subcortical structures and brainstem. In CLN2 (late infantile neuronal ceroid lipofuscinosis or Jansky-Bielschowsky disease, with curvilinear inclusions) degeneration is rapid with generalized cortical and subcortical hypometabolism. This is associated with rapidly progressive cerebral atrophy on anatomical neuroimaging. A 4-year-old child with CLN2 scanned with PET 13 months after the clinical onset showed hypometabolism, severe in the thalamus and mild in cortical areas. Three other patients with CLN2 had severe generalized hypometabolism and brain atrophy. Longitudinal PET studies in CLN may provide key insights into degenerative processes.
authors.affiliation: Department of Pediatrics, UCLA School of Medicine, USA.
authors.forename: M
authors.initials: M
authors.lastname: Philippart
authors.forename: E
authors.initials: E
authors.lastname: da Silva
authors.forename: H T
authors.initials: HT
authors.lastname: Chugani
mesh_terms: D001786:Blood Glucose / Q000378:metabolism*; D001921:Brain / Q000000981:diagnostic imaging*; D001931:Brain Mapping; D002648:Child; D002675:Child, Preschool; D003847:Deoxyglucose / Q000031:analogs & derivatives / Q000378:metabolism; D004734:Energy Metabolism / Q000502:physiology; D005260:Female; D019788:Fluorodeoxyglucose F18; D006801:Humans; D008297:Male; D009410:Nerve Degeneration / Q000502:physiology; D009472:Neuronal Ceroid-Lipofuscinoses / Q000000981:diagnostic imaging*; D014055:Tomography, Emission-Computed; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D001786:Blood Glucose; D000091346:Tripeptidyl-Peptidase 1; D019788:Fluorodeoxyglucose F18; D003847:Deoxyglucose; C000717267:TPP1 protein, human