r-n-jРоссийский неврологический журналRussian neurological journal2658-79472686-7192МИА10.30629/2658-7947-2024-29-3-71-76r-n-j-580Research ArticleИССЛЕДОВАНИЯ И КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL RESEARCHES AND CASE REPORTSВариабельность альтернирующей гемиплегии у детейVariability of alternating hemiplegia in childrenhttps://orcid.org/0009-0008-4657-7020АфанасьеваМ. П.AfanasyevaM. P.

Москва

Moscow

afanaseva@pedklin.ruhttps://orcid.org/0000-0003-3594-6974БелоусоваЕ. Д.BelousovaE. D.

Москва

Moscow

ebelousova@pedklin.ruhttps://orcid.org/0000-0002-0980-2638ШарковА. А.SharkovA. A.

Москва

A.sharkov@pedklin.ruhttps://orcid.org/0000-0001-9286-7805ГорчхановаЗ. К.GorchhanovaZ. K.

Москва

Moscow

zgorchkhanova@pedklin.ruНаучно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е. Вельтищева Российского национального исследовательского медицинского университета имени Н.И. ПироговаРоссияClinical Institute of Pediatrics and Pediatric Surgery named after Academician Yu.E. Veltischev of the Russian National Research Medical University named after N.I. PirogovRussian Federation2024250720242937176Copyright © Афанасьева М.П., Белоусова Е.Д., Шарков А.А., Горчханова З.К., 20242024Афанасьева М.П., Белоусова Е.Д., Шарков А.А., Горчханова З.К.Afanasyeva M.P., Belousova E.D., Sharkov A.A., Gorchhanova Z.K.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.r-n-j.com/jour/article/view/580

   Описаны два случая альтернирующей гемиплегии (АГ) у детей одной возрастной группы, но с различными по степени тяжести клиническими проявлениями. У первого пациента наряду с гемиплегическими и эпилептическими приступами имеются речевые, поведенческие и интеллектуальные расстройства, а также двигательные нарушения. У второго пациента, несмотря на наличие довольно частых гемиплегических атак, нет двигательных и интеллектуальных расстройств. Точные причины такой клинической вариабельности пока неизвестны, что затрудняет прогноз течения у пациентов с АГ.

   Thе article describes two clinical cases of alternating hemiplegia (AH) in children of the same age group, but with different severity of clinical manifestations. The first patient, along with hemiplegic and epileptic seizures, demonstrates speech, behavioral and intellectual disorders, as well as motor disorders. The second patient, despite the presence of fairly frequent hemiplegic attacks, has no motor and intellectual disorders. The exact causes of such clinical variability are not yet known, which makes it difficult to predict the course in patients with AH.

альтернирующая гемиплегиядетидиагностикафлунаризинATP1A3alternating hemiplegiachildrenflunarizineATP1A3Исследование не имело спонсорской поддержкиThe study had no sponsorshipReferencesCapuano A, Garone G, Tiralongo G, Graziola F. Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations. Appl Clin Genet. 2020;13:71–81. doi: 10.2147/TACG.S210325Capuano A, Garone G, Tiralongo G, Graziola F. Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations. Appl Clin Genet. 2020;13:71–81. doi: 10.2147/TACG.S210325Gergont A, Kaciński M. Alternating hemiplegia of childhood: new diagnostic options. Neurol Neurochir Pol. 2014;48(2):130–5. doi: 10.1016/j.pjnns.2013.05.003 Epub 2014 Feb 15. PMID: 24821639.Gergont A, Kaciński M. Alternating hemiplegia of childhood: new diagnostic options. Neurol Neurochir Pol. 2014;48(2):130–5. doi: 10.1016/j.pjnns.2013.05.003 Epub 2014 Feb 15. PMID: 24821639.Verret S, Steele JC. Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy. Pediatrics. 1971;47(4):675–80. PMID: 5089756.Verret S, Steele JC. Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy. Pediatrics. 1971;47(4):675–80. PMID: 5089756.Dittrich J, Havlovб M, Nevsнmalovб S. Paroxysmal hemipareses in childhood. Dev Med Child Neurol. 1979;21:800–7.Dittrich J, Havlovб M, Nevsнmalovб S. Paroxysmal hemipareses in childhood. Dev Med Child Neurol. 1979;21:800–7.Aicardi J, Bourgeois, M, Goutieres, F. Alternating hemiplegia of childhood: clinical findings and diagnostic criteria. In: Andermann F, Aicardi J, Vigevano F, eds. Alternating Hemiplegia of Childhood. New York: Raven Press; 1995:3–18.Aicardi J, Bourgeois, M, Goutieres, F. Alternating hemiplegia of childhood: clinical findings and diagnostic criteria. In: Andermann F, Aicardi J, Vigevano F, eds. Alternating Hemiplegia of Childhood. New York: Raven Press; 1995:3–18.Silver K, Andermann F. Alternating hemiplegia of childhood: the natural history of the disorder in a group of 10 patients. In: Andermann F, Aicardi J, Vigevano F, eds Alternating Hemiplegia of Childhood. New York: Raven Press; 1995:3–18.Silver K, Andermann F. Alternating hemiplegia of childhood: the natural history of the disorder in a group of 10 patients. In: Andermann F, Aicardi J, Vigevano F, eds Alternating Hemiplegia of Childhood. New York: Raven Press; 1995:3–18.Fusco L Vigevano F. Alternating hemiplegia of childhood: clinical findings during attacks. In: Andermann F, Aicardi J, Vigevano F, eds Alternating Hemiplegia of Childhood. New York: Raven Press; 1995:3–18.Fusco L Vigevano F. Alternating hemiplegia of childhood: clinical findings during attacks. In: Andermann F, Aicardi J, Vigevano F, eds Alternating Hemiplegia of Childhood. New York: Raven Press; 1995:3–18.Sakuragawa N. Alternating hemiplegia in childhood: 23 cases in Japan. Brain Dev. 1992;14:283–8Sakuragawa N. Alternating hemiplegia in childhood: 23 cases in Japan. Brain Dev. 1992;14:283–8Mikati MA, Kramer U, Zupanc ML, Shanahan RJ. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. Pediatr Neurol. 2000;23(2):134–41. doi: 10.1016/s0887-8994(00)00157-0. PMID: 11020638.Mikati MA, Kramer U, Zupanc ML, Shanahan RJ. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. Pediatr Neurol. 2000;23(2):134–41. doi: 10.1016/s0887-8994(00)00157-0. PMID: 11020638.Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, et al. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. PLoS One. 2013;8(2):e56120. doi: 10.1371/journal.pone.0056120 Epub 2013 Feb 8. PMID: 23409136; PMCID: PMC3568031.Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, et al. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. PLoS One. 2013;8(2):e56120. doi: 10.1371/journal.pone.0056120 Epub 2013 Feb 8. PMID: 23409136; PMCID: PMC3568031.Rosewich H, Thiele H, Ohlenbusch A et al. Heterozygous denovo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012;11(9):764–773. doi:10.1016/S1474-4422(12)70182-5.Rosewich H, Thiele H, Ohlenbusch A et al. Heterozygous denovo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012;11(9):764–773. doi:10.1016/S1474-4422(12)70182-5.Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C et al. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. J Med Genet. 2004;41(8):621–8. PubMed PMID: 15286158. Pubmed Central PMCID: 1735877. doi: 10.1136/jmg.2003.017863.Bassi MT, Bresolin N, Tonelli A, Nazos K, Crippa F, Baschirotto C et al. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. J Med Genet. 2004;41(8):621–8. PubMed PMID: 15286158. Pubmed Central PMCID: 1735877. doi: 10.1136/jmg.2003.017863.Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44(9):1030–4. PubMed PMID: 22842232. Pubmed Central PMCID: 3442240. doi: /10.1038/ng.2358.Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44(9):1030–4. PubMed PMID: 22842232. Pubmed Central PMCID: 3442240. doi: /10.1038/ng.2358.Pisciotta L, Gherzi M, Stagnaro M, Calevo MG, Giannotta M, Vavassori MR et al. Alternating hemiplegia of childhood: pharmacological treatment of 30 Italian patients. Brain and Development. 2017;39(6):521–8. PubMed PMID: 28249736. doi: 10.1016/j.braindev.2017.02.001.Pisciotta L, Gherzi M, Stagnaro M, Calevo MG, Giannotta M, Vavassori MR et al. Alternating hemiplegia of childhood: pharmacological treatment of 30 Italian patients. Brain and Development. 2017;39(6):521–8. PubMed PMID: 28249736. doi: 10.1016/j.braindev.2017.02.001.Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015;52(1):56–64. PubMed PMID: 25447930. Pubmed Central PMCID: 4352574. doi: 10.1016/j.pediatrneurol.2014.09.015.Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015;52(1):56–64. PubMed PMID: 25447930. Pubmed Central PMCID: 4352574. doi: 10.1016/j.pediatrneurol.2014.09.015.Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, et al.; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium. Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood a study of 155 patients. Orphanet Orphanet J Rare Dis. 2015;10(1):123. doi: 10.1186/s13023-015-0335-5Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, et al.; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium. Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood a study of 155 patients. Orphanet Orphanet J Rare Dis. 2015;10(1):123. doi: 10.1186/s13023-015-0335-5Capuano A, Garone G, Tiralongo G, Graziola F. Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations. Appl Clin Genet. 2020;13:71–81. doi: 10.2147/TACG.S210325 PMID: 32280259; PMCID: PMC7125306.Capuano A, Garone G, Tiralongo G, Graziola F. Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations. Appl Clin Genet. 2020;13:71–81. doi: 10.2147/TACG.S210325 PMID: 32280259; PMCID: PMC7125306.Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015;52(1):56–64. doi: 10.1016/j.pediatrneurol.2014.09.015 Epub 2014 Oct 13. PMID: 25447930; PMCID: PMC4352574.Sweney MT, Newcomb TM, Swoboda KJ. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015;52(1):56–64. doi: 10.1016/j.pediatrneurol.2014.09.015 Epub 2014 Oct 13. PMID: 25447930; PMCID: PMC4352574.Samanta D. Management of Alternating Hemiplegia of Childhood: A Review. Pediatr Neurol. 2020;103:12–20. doi: 10.1016/j.pediatrneurol.2019.10.003 Epub 2019 Nov 1. PMID: 31836335.Samanta D. Management of Alternating Hemiplegia of Childhood: A Review. Pediatr Neurol. 2020;103:12–20. doi: 10.1016/j.pediatrneurol.2019.10.003 Epub 2019 Nov 1. PMID: 31836335.

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