Preview

Medical alphabet

Advanced search
Open Access Open Access  Restricted Access Subscription or Fee Access

Hallerworden – Spatz DISEASE. Clinical case

https://doi.org/10.33667/2078-5631-2024-33-34-38

Abstract

The article presents a description of a clinical case of a rare hereditary Hallervorden – Spatz disease with an atypical late form with onset in the fourth decade of life with a rapidly progressive course and unfavorable prognosis. The most characteristic signs of the disease in this patient were parkinsonism syndrome, pyramidal signs, various types of hyperkinesis, decreased cognitive functions, depression. The diagnosis was confirmed by a clinical and a typical MRI signs in the form of the “eye of the tiger” symptom. Due to the lack of effective treatment methods at present, the patient received symptomatic treatment.

About the Authors

L. B. Novikova
Bashkir State Medical University
Russian Federation

Novikova Liliya B., DM Sci (habil.), professor, head of Dept of Neurology and Neurorehabilitation

Ufa



K. M. Ziultsle
Bashkir State Medical University
Russian Federation

Ziultsle Karina M., PhD Med, associate professor at Dept of Neurology and Neurorehabilitation

Ufa



A. P. Akopian
Bashkir State Medical University
Russian Federation

Akopian Anahit P., PhD Med, associate professor at Dept of Nurology and Neurorehabilitation

Ufa



References

1. Kolarova H, Tan J, Strom TM, Meitinger T, Wagner M, Klopstock T. Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases. EBioMedicine. 2022 Mar; 77: 103869. DOI: 10.1016/j.ebiom.2022.103869

2. Di Meo I, Tiranti V. Classification and molecular pathogenesis of NBIA syndromes. Eur. J. Paediatr Neurol. 2018 Mar; 22 (2): 272-284. DOI: 10.1016/j.ejpn.2018.01.008

3. Huang Y, Wan Z, Tang Y, Xu J, Laboret B, Nallamothu S, Yang C, Liu B, Lu RO, Lu B, Feng J, Cao J, Hayflick S, Wu Z, Zhou B. Pantothenate kinase 2 interacts with PINK1 to regulate mitochondrial quality control via acetyl-CoA metabolism. Nat Commun. 2022 May 3; 13 (1): 2412. DOI: 10.1038/s41467-022-30178-x

4. Nassif D, Pereira JS, Spitz M, Capitão C, Faria A. Neurodegeneration with brain iron accumulation: A case report. Dement Neuropsychol. 2016 Apr-Jun; 10 (2): 160-164. DOI: 10.1590/S1980-5764-2016DN1002014

5. Hayflick SJ, Kurian MA, Hogarth P. Neurodegeneration with brain iron accumulation. Handb Clin Neurol. 2018; 147: 293-305. DOI: 10.1016/B9780444632333.00019–1

6. Voges L, Kupsch A. Renaming of Hallervorden – Spatz disease: the second man behind the name of the disease. J. Neural. Transm. (Vienna). 2021; 128 (11): 1635-1640. DOI: 10.1007/s00702-021-02408-x

7. Munshi MI, Yao SJ, Ben Mamoun C. Redesigning therapies for pantothenate kinase-associated neurodegeneration. J. Biol. Chem. 2022 Mar; 298 (3): 101577. DOI: 10.1016/j.jbc.2022.101577

8. Autlev K.M., Kruchinin E.V., Kozlov M.V., Mokin E.A. and others. Hereditary neurodegenerations with iron accumulation in the brain (literature review). Ural Medical Journal. 2019; 3 (171): 9-16. (In Russ.). DOI: 10.25694/URMJ.2019.03.15

9. Shi X, Zheng F, Ye X, Li X, Zhao Q, Lin Z, Hu Y, Wang J. Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report. Medicine (Baltimore). 2018 Apr; 97 (15): e0316. DOI: 10.1097/MD.0000000000010316

10. Shalash AS, Rösler TW, Abdelrahman IY, Abulmakarem HS, Müller SH, Hopfner F, Kuhlenbäumer G, Höglinger GU, Salama M. Atypical pantothenate kinase-associated neurodegeneration with variable phenotypes in an Egyptian family. Heliyon. 2021 Jul 2; 7 (7): e07469. DOI: 10.1016/j.heliyon.2021.e07469

11. Marshall RD, Collins A, Escolar ML, Jinnah HA, Klopstock T, Kruer MC, Videnovic A, Robichaux-Viehoever A, Burns C, Swett LL, Revicki DA, Bender RH, Lenderking WR. Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration. Orphanet J Rare Dis. 2019 Jul 12; 14 (1): 174. DOI: 10.1186/s1302301911421

12. Brezavar D, Bonnen PE. Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans. Mol Genet Metab. 2019 Dec; 128 (4): 463-469. DOI: 10.1016/j.ymgme.2019.09.002

13. Ponomarev V.V. Hallervorden – Spatz disease (Clinical review and clinical observation). International Journal of Neurology. 2011; 3 (41): 120-124. (In Russ.).

14. Kopishinskaya S.V., Makushina S.V., Gustov A.V., Parshina E.V. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz disease). Medical Almanac. 2013; 1 (25): 150-152. (In Russ.).

15. Razmeh S, Habibi AH, Orooji M, Alizadeh E, Moradiankokhdan K, Razmeh B. Pantothenate kinase-associated neurodegeneration: clinical aspects, diagnosis and treatments. Neurol Int. 2018; 10 (1): 7516. DOI: 10.4081/ni.2018.7516

16. Chang X, Zhang J, Jiang Y, Wang J, Wu Y. Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration. CNS Neurosci Ther. 2020; 26: 754-761. https://doi.org/10.1111/cns.13294

17. Choayb S, Adil H, Ali Mohamed D, Allali N, Chat L, El Haddad S. Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration. Case Rep Radiol. 2021 May 7; 2021: 6633217. DOI: 10.1155/2021/6633217

18. Paprocka J, Machnikowska-Sokołowska M, Gruszczyńska K, Emich-Widera E. Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children. Brain Sci. 2020 Nov 12; 10 (11): 849. DOI: 10.3390/brainsci10110849

19. Perevoshchikova A.A., Yurkina N.V., Spichak I.I. Clinical case of Hallervorden-Spatz disease. Pediatric Bulletin of the Southern Urals. 2022; 2: 92-100. (In Russ.).

20. Lee JH, Gregory A, Hogarth P, Rogers C, Hayflick SJ. Looking Deep into the Eye-of-theTiger in Pantothenate Kinase-Associated Neurodegeneration. AJNR Am.J. Neuroradiol. 2018 Mar; 39 (3): 583–588. DOI: 10.3174/ajnr.A5514

21. Belinskaya V.V., Dutova T.I. Features of diagnosis of Hallervorden - Spatz disease (clinical observation). Universe of the brain. 2021; 3: 2 (9): 7-9. (In Russ.).

22. Rivera D, Roa-Sanchez P, Bidó P, Speckter H, Oviedo J, Stoeter P. Cerebral and cerebellar white matter tract alterations in patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN). Parkinsonism Relat Disord. 2022 May; 98: 1-6. DOI: 10.1016/j.parkreldis.2022.03.017

23. Hayflick SJ, Hartman M, Coryell J. et al. Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am.J. Neuroradiol. 2006; 27: 1230-33.

24. Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. J. Mov Disord. 2015 Jan; 8 (1): 1-13. DOI: 10.14802/jmd.14034

25. Sharma LK, Subramanian C, Yun MK, Frank MW, White SW, Rock CO, Lee RE, Jackowski S. A therapeutic approach to pantothenate kinase associated neurodegeneration. Nat Commun. 2018 Oct 23; 9 (1): 4399. DOI: 10.1038/s41467018067032

26. Pohane MR, Dafre R, Sontakke NG. Diagnosis and Treatment of Pantothenate Kinase-Associated Neurodegeneration (PKAN): A Systematic Review. Cureus. 2023 Sep 28; 15 (9): e46135. DOI: 10.7759/cureus.46135

27. Woo KA, Kim HJ, Jeon SH, Park HR, Park KW, Lee SH, Chung SJ, Chae JH, Paek SH, Jeon B. Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia. J. Mov Disord. 2022 Sep; 15 (3): 241-248. DOI: 10.14802/jmd.22002

28. Garcia-Ruiz PJ, Ayerbe J, Vela Desojo L, Feliz CE, Del Val Fernandez J. Deep brain stimulation for pantothenate kinase-associated neurodegeneration. Case Rep Neurol Med. 2015; 2015: 245735. DOI: 10.1155/2015/245735

29. Reddy V, Saboo K, Reddy K, Kumar S, Acharya S. Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma. Cureus. 2023 Oct 8; 15 (10): e46665. DOI: 10.7759/cureus.46665

30. Rudenskaya G.E., Zakharova E. Yu. Hereditary neurodegenerations with iron accumulation in the brain. Annals of Clinical and Experimental Neurology. 2013; 7 (4): 51-60. (In Russ.).


Review

For citations:


Novikova L.B., Ziultsle K.M., Akopian A.P. Hallerworden – Spatz DISEASE. Clinical case. Medical alphabet. 2024;(33):34-38. (In Russ.) https://doi.org/10.33667/2078-5631-2024-33-34-38

Views: 259


ISSN 2078-5631 (Print)
ISSN 2949-2807 (Online)