medalphabetМедицинский алфавитMedical alphabet2078-56312949-2807ООО «Альфмед»10.33667/2078-5631-2024-33-34-38medalphabet-4152Research ArticleСтатьиБолезнь Галлервордена – Шпатца. Клинический случайHallerworden – Spatz DISEASE. Clinical casehttps://orcid.org/0000-0001-8469-1635НовиковаЛ. Б.NovikovaL. B.

Новикова Лилия Бареевна, д.м.н., проф., зав. кафедрой неврологии и нейрореабилитации

Уфа

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

Ufa

https://orcid.org/0000-0002-8552-6233ЗюльцлеК. М.ZiultsleK. M.

Зюльцле Карина Маратовна, к.м.н., доцент кафедры неврологии и нейрореабилитации

Уфа

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

Ufa

sharapovakarina.2020@gmail.comhttps://orcid.org/0000-0001-8436-5610АкопянА. П.AkopianA. P.

Акопян Анаит Погосовна, к.м.н., доцент кафедры неврологии и нейрореабилитации

Уфа

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

Ufa

ФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава РоссииРоссияBashkir State Medical UniversityRussian Federation202424012025033«Неврология и психиатрия» (4)3438Copyright © Новикова Л.Б., Зюльцле К.М., Акопян А.П., 20252025Новикова Л.Б., Зюльцле К.М., Акопян А.П.Novikova L.B., Ziultsle K.M., Akopian A.P.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-alphabet.com/jour/article/view/4152

В статье представлено описание клинического случая болезни Галлервордена – Шпатца с атипичной поздней формой с дебютом на четвертом десятилетии жизни с быстропрогрессирующим течением и неблагоприятным прогнозом. Наиболее характерными признаками заболевания у данной пациентки были синдром паркинсонизма, пирамидные знаки, различные виды гиперкинезов, снижение когнитивных функций, депрессия. Диагноз подтвержден характерной клинической картиной и типичным МРТ-признаком в виде симптома «глаза тигра». В связи с отсутствием в настоящее время эффективных методов лечения больная получала симптоматическое лечение.

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.

болезнь Галлервордена - Шпатцаотложение железасимптом «глаза тигра»паркинсонизмнейродегенерацияHallervorden - Spatz diseaseiron deposition«eye of the tiger» symptomparkinsonismneurodegenerationReferencesKolarova 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.2022.103869Kolarova 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.2022.103869Di 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.2018.01.008Di 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.2018.01.008Huang 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-xHuang 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-xNassif 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/S1980-5764-2016DN1002014Nassif 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/S1980-5764-2016DN1002014Hayflick SJ, Kurian MA, Hogarth P. Neurodegeneration with brain iron accumulation. Handb Clin Neurol. 2018; 147: 293-305. DOI: 10.1016/B9780444632333.00019–1Hayflick SJ, Kurian MA, Hogarth P. Neurodegeneration with brain iron accumulation. Handb Clin Neurol. 2018; 147: 293-305. DOI: 10.1016/B9780444632333.00019–1Voges 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-xVoges 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-xMunshi 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.2022.101577Munshi 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.2022.101577Аутлев К.М., Кручинин Е.В., Козлов М.В., Мокин. Е.А. и др. Наследственные нейродегенерации с накоплением железа в мозге (литературный обзор). Уральский медицинский журнал. 2019; 3 (171): 9-16.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.2019.03.15Shi 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.0000000000010316Shi 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.0000000000010316Shalash 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.e07469Shalash 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.e07469Marshall 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/s1302301911421Marshall 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/s1302301911421Brezavar 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.2019.09.002Brezavar 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.2019.09.002Пономарев В.В. Болезнь Галлервордена – Шпатца (Клинический обзор и клиническое наблюдение). Международный неврологический журнал. 2011; 3 (41): 120–124.Ponomarev V.V. Hallervorden – Spatz disease (Clinical review and clinical observation). International Journal of Neurology. 2011; 3 (41): 120-124. (In Russ.).Копишинская С.В., Макушина С.В., Густов А.В., Паршина Е.В. Пантотенаткиназа-ассоциированная нейродегенерация (Болезнь Галлервордена – Шпатца). Медицинский Альманах. 2013; 1 (25): 150-152.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.).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.2018.7516Razmeh 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.2018.7516Chang 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.13294Chang 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.13294Choayb 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: 10.1155/2021/6633217Choayb 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: 10.1155/2021/6633217Paprocka 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/brainsci10110849Paprocka 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/brainsci10110849Перевощикова А. А., Юркина Н. В., Спичак И. И. Клинический случай болезни Галлервордена – Шпатца. Педиатрический вестник Южного Урала. 2022; 2: 92-100.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.).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.A5514Lee 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.A5514Белинская В.В., Дутова Т.И. Особенности диагностики болезни Галлервордена – Шпатца (клиническое наблюдение). Вселенная мозга. 2021; 3: 2 (9): 7-9.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.).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.2022.03.017Rivera 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.2022.03.017Hayflick 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.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.Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. J. Mov Disord. 2015 Jan; 8 (1): 1-13. DOI: 10.14802/jmd.14034Hogarth P. Neurodegeneration with brain iron accumulation: diagnosis and management. J. Mov Disord. 2015 Jan; 8 (1): 1-13. DOI: 10.14802/jmd.14034Sharma 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/s41467018067032Sharma 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/s41467018067032Pohane 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.46135Pohane 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.46135Woo 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.22002Woo 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.22002Garcia-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: 10.1155/2015/245735Garcia-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: 10.1155/2015/245735Reddy 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.46665Reddy 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.46665Руденская Г.Е., Захарова Е.Ю. Наследственные нейродегенерации с накоплением железа в мозге. Анналы клинической и экспериментальной неврологии. 2013; 7 (4): 51-60.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.).

The authors declare that there are no conflicts of interest present.