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Proton MR spectroscopy reveals lactate in infantile neuroaxonal dystrophy (INAD)
I Mader1, I Krägeloh-Mann, U Seeger
1Section of Experimental MR of the CNS, Department of Neuroradiology, Tübingen University School of Medicine, Germany. irina.mader@med.uni-tuebingen.de
Insights
Proton MR spectroscopy detected lactate in the basal ganglia of infantile neuroaxonal dystrophy patients. This finding aids in diagnosing this rare neurological disorder.
Area of Science:
- Neurology
- Biochemistry
- Medical Imaging
Background:
- Infantile neuroaxonal dystrophy (INAD) is a rare, inherited neurodegenerative disorder.
- Diagnosis typically relies on a combination of clinical, neuropathological, and neuroradiological data.
- Proton MR spectroscopy (1H-MRS) offers a non-invasive method to assess brain metabolites.
Observation:
- Two cases of INAD were investigated using MRI and 1H-MRS of the basal ganglia.
- Increased signal intensity in the cerebellar cortex was noted on T2-weighted, proton density, and FLAIR images.
- Long echo time (135 ms) 1H-MRS revealed lactate in the basal ganglia of both patients.
Findings:
- The N-acetylaspartate/creatine ratio was reduced in both cases.
- The choline/creatine ratio was consistently elevated.
- Lactate was a significant finding in the basal ganglia spectra of INAD patients.
Implications:
- The presence of basal ganglia lactate in 1H-MRS spectra may serve as a biomarker for INAD.
- This spectroscopic finding can assist in narrowing the differential diagnosis of INAD.
- It may support the decision for more invasive diagnostic procedures, such as biopsies.
Abstract:
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).