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Neuropediatrics 1997; 28(1): 74-76
DOI: 10.1055/s-2007-973675
Original articles

© Hippokrates Verlag GmbH Stuttgart

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)

M. Philippart1 , E. da Silva2 , H. T. Chugani2
  • 1Departments of Pediatrics, Neurology and Psychiatry and the Mental Retardation Research Center, UCLA School of Medicine; Los Angeles, California;
  • 2Departments of Pediatrics, Neurology and Radiology, Children's Hospital of Michigan; Wayne State University, Detroit, Michigan, USA
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Publication History

Publication Date:
13 March 2007 (online)

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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 CLIM2 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.

Key words

Curvilinear inclusions - Neuronal ceroid lipofuscinosis - Late infantile Batten disease - Juvenile Batten disease - Positron Emission Tomography - Thalamus - Antiepileptic drugs (AED)

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