Changes of cerebral metabolites detected by proton MR spectroscopy in two cases of
infantile neuroaxonal dystrophy are described. A 6 11/12-year-old boy and a girl (aged 4 1/12 years at the first and 5 2/12 years at the second examination) with infantile neuroaxonal dystrophy were investigated
by magnetic resonance imaging and spectroscopy of the basal ganglia. The signal intensity
of the cerebellar cortex was increased on T2-weighted, proton density, and fluid attenuated inversion recovery images. The long
echo time (135 ms) spectra revealed the presence of lactate in the basal ganglia of
both cases in all investigations. The N-acetylaspartate/creatine ratio was reduced
in Case 1 and in the second investigation of Case 2. The choline/creatine ratio was
always increased.
As the diagnosis of infantile neuroaxonal dystrophy is made by a synopsis of various
clinical, neuropathological, neurophysiological, and neuroradiological data, the presence
of lactate in the basal ganglia spectra may help to narrow down the diagnosis and
can support the decision to perform more invasive diagnostic procedures (such as biopsies
of skin, conjunctiva or even of the brain).
Key words
Infantile neuroaxonal dystrophy - INAD - MR spectroscopy - Lactate
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M. D. Irina Mader
Section of Experimental Magnetic Resonance of the CNS Department of Neuroradiology
Tübingen University School of Medicine
Hoppe-Seyler-Str. 3
72076 Tübingen
Germany
Email: irina.mader@med.uni-tuebingen.de
