POSITRON EMISSION TOMOGRAPHY IN NEURONAL CEROID-LIPOFUSCINOSIS (JANSKY-BIELSCHOWSKY DISEASE) - A CASE-REPORT

We report on a 13-year-old girl with late infantile neuronal ceroid li pofuscinosis (NCL) in whom PET scanning with [F-18]-2-fluoro-2-deoxy-D -glucose ([F-18] / FDG) was performed. Early psychomotor development w as normal. At the age of 2 years, neurological signs such as hypotonia and incoordination appeared, followed by visual failure and ataxia. A t the age of 4, funduscopic examination showed macular degeneration an d papillary atrophy. At the age of 9, myoclonic jerks were observed; s ubsequently, generalized seizures together with failing vision, mental deterioration, and visual and auditory hallucinations appeared. Brain MRI showed severe cortical and subcortical atrophy. A skin biopsy det ected the presence of 'finger-print' inclusions in the cytoplasm of sm ooth muscle fibers. Late infantile NCL (Jansky-Bielschowsky disease) w as diagnosed. FDG / PET revealed a severe reduction of metabolism in a ll the cortical and subcortical structures. A regional analysis of the distribution of the tracer revealed marked bilateral hypometabolism, particularly in calcarine, lateral, occipital, and temporal cortices a nd in the thalamus.