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.

journal_name

Neuropediatrics

journal_title

Neuropediatrics

authors

Philippart M,da Silva E,Chugani HT

doi

10.1055/s-2007-973675

subject

Has Abstract

pub_date

1997-02-01 00:00:00

pages

74-6

issue

1

eissn

0174-304X

issn

1439-1899

journal_volume

28

pub_type

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