vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v23i4.2770vsp-3569Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSГанглиозидоз GM2 (болезнь Тея – Сакса), тип I, инфантильная форма: клинический случайGM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Casehttps://orcid.org/0000-0002-8046-9882БабкинА. А.BabkinArtem A.

Бабкин Артём Александрович, кандидат медицинских наук, ассистент кафедры педиатрии факультета дополнительного профессионального образования

672000, Чита, ул. Горького, 39А, тел.: +7 (302) 235-43-24 

Chita

aa-babkin@mail.ruhttps://orcid.org/0000-0002-2032-7612ЩербакВ. А.ShcherbakVladimir A.

Чита

Chita

ЛеонтьеваЕ. В.LeontievaElena V.

Чита

Chita

КирийЛ. А.KiriiLada A.

Чита

Chita

Читинская государственная медицинская академияРоссияChita State Medical AcademyRussian FederationКраевая детская клиническая больницаРоссияKrai Children’s ClinicalRussian Federation202413092024234247251Copyright © Бабкин А.А., Щербак В.А., Леонтьева Е.В., Кирий Л.А., 20242024Бабкин А.А., Щербак В.А., Леонтьева Е.В., Кирий Л.А.Babkin A.A., Shcherbak V.A., Leontieva E.V., Kirii L.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3569

Обоснование. Ганглиозидоз GM2 (болезнь Тея – Сакса, вариант B, тип I) — орфанное заболевание с аутосомно-рецессивным типом наследования. Развивается в результате накопления ганглиозидов в тканях и органах. Впервые представлено описание клинического случая ганглиозидоза GM2 у пациента, происходящего из бурятской народности. Описание клинического случая. Девочка, возраст 1 год 4 мес, родители — буряты. При поступлении в отделение неврологии жалобы (со слов матери) на отсутствие движений в конечностях, ребенок перестал переворачиваться, стал вялым, медленно ест прикорм. При биохимическом анализе крови обнаружено увеличение активности аспартатаминотрансферазы в 6 раз от верхней границы нормы. Активность ферментов α-галактозидазы, α-глюкозидазы, β-D-глюкозидазы, сфингомиелиназы, галактоцереброзидазы и α-идуронидазы в пределах референсных значений. При секвенировании по Сенгеру выявлен нуклеотидный вариант chr15:72346680G>A (GRCh38) в гомозиготном состоянии в гене HEXA. Установлен диагноз: «Ганглиозидоз GM2, тип I, инфантильная форма». Заключение. Ганглиозидоз GM2 является редким заболеванием, особенно в азиатских популяциях. Кроме того, ганглиозидоз GM2 наследуется по аутосомно-рецессивному типу, при этом в описанной семье родились два ребенка с этим заболеванием (у первого ребенка наличие заболевания предполагалось на основании клинических признаков).

Background. GM2 gangliosidosis (Tay-Sachs disease, variant B, type I) is an orphan disease with autosomal recessive inheritance. It develops due to gangliosides accumulation in tissues and organs. The description of clinical case of GM2 gangliosidosis in the patient originating from the Buryat nationality has been presented for the first time. Clinical case description. Girl, 1 year 4 months old, parents — Buryats. There were the following complaints at their admission to the neurology department: lack of movement in the limbs, the child has stopped turning over, became lethargic, slowly ate supplemental feeding. Biochemical blood test has shown increased aspartate aminotransferase activity by 6 times from normal upper limit. α-galactosidase, α-glucosidase, β-D-glucosidase, sphingomyelinase, galactocerebrosidase, and α-iduronidase activities were within the reference levels. Sanger sequencing has revealed the nucleotide variant chr15:72346680G>A (GRCh38) in homozygous state in the HEXA gene. The diagnosis has been established: “GM2 gangliosidosis, type I, infantile form”. Conclusion. GM2 gangliosidosis is a rare disease, especially among Asian populations. Moreover, GM2 gangliosidosis is inherited in autosomal recessive way, thus, two children in the described family had the disease (the first child was assumed to have the disease according to the clinical signs)

ганглиозидоз GM2болезнь Тея – Саксаорфанные болезниаутосомно-рецессивный тип наследованияGM2 gangliosidosisTay-Sachs diseaseorphan diseasesautosomal recessive inheritanceReferencesСоловьева В.В., Шаймарданова А.А., Чулпанова Д.С. и др. Болезнь Тея-Сакса: диагностика, моделирование и подходы к терапии // Гены и Клетки. — 2020. — Т. 15. — № 1 — C. 17–22. — doi: https://doi.org/10.23868/202003002Solovyeva VV, Shaimardanova AA, Chulpanova DS, et al. TaySachs disease: diagnostic, modeling and treatment approaches. Genes & Cells. 2020;15(1):17–22. (In Russ). doi: https://doi.org/10.23868/202003002Liu Z, Zhao R. Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient. Stem Cell Res. 2016;17(2):289–291. doi: https://doi.org/10.1016/j.scr.2016.08.010Liu Z, Zhao R. Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient. Stem Cell Res. 2016;17(2):289–291. doi: https://doi.org/10.1016/j.scr.2016.08.010Rozenberg R, Pereira L da V. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program. Sao Paulo Med J. 2001;119(4):146–149. doi: https://doi.org/10.1590/s1516-31802001000400007Rozenberg R, Pereira L da V. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program. Sao Paulo Med J. 2001;119(4):146–149. doi: https://doi.org/10.1590/s1516-31802001000400007Gravel R, Kaback MM, Proia RL, et al. The GM2 gangliosidoses. In: Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D, eds. 8th edn. New York, NY, USA: McGraw-Hill; 2001. pp. 3827–3876.Gravel R, Kaback MM, Proia RL, et al. The GM2 gangliosidoses. In: Metabolic and Molecular Bases of Inherited Disease. Scriver CR, Beaudet AL, Sly WS, Valle D, eds. 8th edn. New York, NY, USA: McGraw-Hill; 2001. pp. 3827–3876.Gowda VK, Gupta P, Bharathi NK, et al. Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India. J Pediatr Genet. 2020;11(1):34–41. doi: https://doi.org/10.1055/s-0040-1718726Gowda VK, Gupta P, Bharathi NK, et al. Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India. J Pediatr Genet. 2020;11(1):34–41. doi: https://doi.org/10.1055/s-0040-1718726Karimzadeh P, Jafari N, Nejad Biglari H, et al. GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series). Iran J Child Neurol. 2014;8(3):55–60.Karimzadeh P, Jafari N, Nejad Biglari H, et al. GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series). Iran J Child Neurol. 2014;8(3):55–60.İnci A, Cengiz Ergin FB, Biberoğlu G, et al. Two patients from Turkey with a novel variant in the GM2A gene and review of the literature. J Pediatr Endocrinol Metab. 2021;34(6):805–812. doi: https://doi.org/10.1515/jpem-2020-0655İnci A, Cengiz Ergin FB, Biberoğlu G, et al. Two patients from Turkey with a novel variant in the GM2A gene and review of the literature. J Pediatr Endocrinol Metab. 2021;34(6):805–812. doi: https://doi.org/10.1515/jpem-2020-0655Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. In: GeneReviews® [Internet]. Pagon RA, Adam MP, Bird TD, et al., eds. Seattle (WA): University of Washington, Seattle; 2011. Available online: https://web.archive.org/web/20140116030612/http://www.ncbi.nlm.nih.gov/books/NBK1218. Accessed on April 01, 2024.Kaback MM, Desnick RJ. Hexosaminidase A Deficiency. In: GeneReviews® [Internet]. Pagon RA, Adam MP, Bird TD, et al., eds. Seattle (WA): University of Washington, Seattle; 2011. Available online: https://web.archive.org/web/20140116030612/http://www.ncbi.nlm.nih.gov/books/NBK1218. Accessed on April 01, 2024.Leal AF, Benincore-Flórez E, Solano-Galarza D, et al. GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies. Int J Mol Sci. 2020;21(17):6213. doi: https://doi.org/10.3390/ijms21176213Leal AF, Benincore-Flórez E, Solano-Galarza D, et al. GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies. Int J Mol Sci. 2020;21(17):6213. doi: https://doi.org/10.3390/ijms21176213Park JH, Ko JM, Kim MS, et al. Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy. Mol Genet Genomic Med. 2021;9(6):e1677. doi: https://doi.org/10.1002/mgg3.1677Park JH, Ko JM, Kim MS, et al. Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy. Mol Genet Genomic Med. 2021;9(6):e1677. doi: https://doi.org/10.1002/mgg3.1677Ferreira CR, Gahl WA. Lysosomal storage diseases. Transl Sci Rare Dis. 2017;2(1-2):1–71. doi: https://doi.org/10.3233/TRD-160005Ferreira CR, Gahl WA. Lysosomal storage diseases. Transl Sci Rare Dis. 2017;2(1-2):1–71. doi: https://doi.org/10.3233/TRD-160005

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