The value of magnetic resonance spectroscopy in the diagnosis of hereditary leukodystrophy. A series of own observations

Hnatovska D.I.,Solodovnikova Yu.O.,Son A.S.

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The value of magnetic resonance spectroscopy in the diagnosis of hereditary leukodystrophy. A series of own observations

November 27, 2024

Neurology and Psychiatry

Hnatovska D.I.

Solodovnikova Yu.O.

Son A.S.

УДК: 616.832.4-071

DOI: 10.32471/umj.1680-3051.167.260535

Keywords :

genetic research,

hereditary leukodystrophies,

magnetic resonance spectroscopy

Specialities :

Neurology and Psychiatry

Resume

Magnetic resonance (MR) spectroscopy is an analytical method used as an adjunct to the more common method of magnetic resonance imaging (MRI) to study metabolic changes in various brain diseases, such as hereditary leukodystrophies.

Object and methods of the study. Analysis of MR spectroscopy protocols of 3 patients with MR signs of leukodystrophy.

Results. As a result of comparing MR spectroscopy and MRI data of a 20-year-old patient with epileptic seizures, progressive cognitive deficit and unsteadiness of gait, an increase in the lipid peak in pathological areas is noted, which indicates a possible mitochondrial encephalopathy. Genetic study revealed a mutation in the MT-ND5 gene. In a 23-year-old patient with moderate spastic lower paraparesis, the MRI pattern meets the Steenweg criteria for the diagnosis of leukoencephalopathy with brainstem and spinal cord damage and increased lactate (LBSL). MR spectroscopy did not reveal an increase in the peak lactate in the medulla (which is a criterion for confirming the diagnosis of LBSL), but the results indicated pronounced processes of active demyelination. Genetic testing revealed 2 pathogenic variants of the DARS2 gene. According to the MR spectroscopy data of a 45-year-old patient with lower limb weakness, dysarthria, cognitive deficits and diffuse damage to the white matter of both cerebral hemispheres, a moderate decrease in N-acetylaspartate and a moderate increase in choline levels in the affected areas, together with MRI data more characteristic of autosomal dominant adult leukodystrophy.

Conclusion. MR spectroscopy is of great importance in establishing and verifying the diagnosis in patients with hereditary leukodystrophies.

References

1. Tognarelli J.M., Dawood M., Shariff M.I. et al. (2015) Magnetic Resonance Spectroscopy: Principles and Techniques: Lessons for Clinicians. J. Clin. Exp. Hepatol., 5(4): 320–328. DOI: 10.1016/j.jceh.2015.10.006.
2. Guerreiro R., Kara E., Le Ber I. et al. (2013) Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol., 70(7): 875–882. DOI: 10.1001/jamaneurol.2013.698.
3. Köhler W., Curiel J., Vanderver A. (2018) Adulthood leukodystrophies. Nat. Rev. Neurol., 14(2): 94–105. DOI: 10.1038/nrneurol.2017.175.
4. Hameed S., Tadi P. (2023) Myoclonic Epilepsy and Ragged Red Fibers. In: StatPearls. Treasure Island (FL): StatPearls Publishing.
5. Solodovnikova Y. (2023) Myoclonic epilepsy with ragged red fibres (MERRF syndrome). Case study, Radiopaedia.org. DOI: 10.53347/rID-155658.
6. Solodovnikova Y. (2023) Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. Case study, Radiopaedia.org.
7. Stellingwerff M.D., Figuccia S., Bellacchio et al. (2021) LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations. Neurol. Genet. 7(2): e559. DOI: 10.1212/NXG.0000000000000559.
8. Li J.L., Lee N.C., Chen P.S. et al. (2021) Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity. Mov. Disord. Clin. Pract., 8(7): 1116–1122.
9. Wongkittichote P., Magistrati M., Shimony J.S. et al. (2022) Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Mol. Genet. Metab., 136(4): 260–267.
10. Heckl S., Gohla G., Schwarz R. et al. (2024) MR characteristics in LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation). Rofo, 196(5): 417–420. DOI: 10.1055/a-2042-2228.
11. Zanigni S., Terlizzi R., Tonon C. et al. (2015) Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy. Brain Res. Bull., 117: 24–31. DOI: 10.1016/j.brainresbull.2015.07.002.