Features of neurosurgical tactics in a child with type 1 GM1 gangliosidosis (clinical case)
https://doi.org/10.56618/20712693_2022_14_3_110
Abstract
ABSTRACT
Gangliosidoses are a heterogeneous group of genetically determined metabolic diseases resulting from the insufficiency of the beta-galactosidase enzyme, which leads to the accumulation of GM1-ganglioside and its metabolites in cells. The more the enzyme activity is reduced, the more severe the course and early onset of GM1 gangliosidosis. Depending on the age of the debut, there are three clinical forms of the disease. The most common is GM1-gangliosidosis type 1 — the disease manifests in the first 6 months of life, has a progressive course and an unfavorable prognosis. The main clinical manifestations of the disease are facial and skeletal anomalies, diffuse muscular hypotension, hepatosplenomegaly, cherryred macular spot (a symptom of a “cherry stone” on the fundus), pronounced delay in psychomotor development. The article describes a patient with severe GM1-gangliosidosis type 1, with typical clinical manifestations, including craniosynostosis and hydrocephalus.
Supporting agencies: The study was performed without external funding.
About the Authors
L. M. Shugareva
Children’s City Multidisciplinary Clinical Specialized Center of High Medical Technologies; Federal State Budgetary Educational Institution of Higher Education “North-Western State Medical University named after
I.I. Mechnikov”
Russian Federation
Russian Federation
Liudmila Sсhugareva
St. Petersburg
O. V. Poteshkina
Children’s City Multidisciplinary Clinical Specialized Center of High Medical Technologies; Federal State Budgetary Educational Institution of Higher Education “North-Western State Medical University named after
I.I. Mechnikov”
Russian Federation
Russian Federation
Oksana Poteshkina
St. Petersburg
V. D. Petrova
Children’s City Multidisciplinary Clinical Specialized Center of High Medical Technologies
Russian Federation
Russian Federation
Valeria Petrova
St. Petersburg
A. Y. Alibekkadiev
Children’s City Multidisciplinary Clinical Specialized Center of High Medical Technologies
Russian Federation
Russian Federation
Alibekkadiev Alibekkadi
St. Petersburg
S. A. Sotnikov
Children’s City Multidisciplinary Clinical Specialized Center of High Medical Technologies
Russian Federation
Russian Federation
Semen Sotnikov
St. Petersburg
E. Y. Kryukov
Children’s City Multidisciplinary Clinical Specialized Center of High Medical Technologies; Federal State Budgetary Educational Institution of Higher Education “North-Western State Medical University named after
I.I. Mechnikov”
Russian Federation
Russian Federation
Evgeny Krukov
St. Petersburg
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Review
For citations:
Shugareva L.M., Poteshkina O.V., Petrova V.D., Alibekkadiev A.Y., Sotnikov S.A., Kryukov E.Y. Features of neurosurgical tactics in a child with type 1 GM1 gangliosidosis (clinical case). Russian Neurosurgical Journal named after Professor A. L. Polenov. 2023;15(1):139-144. (In Russ.) https://doi.org/10.56618/20712693_2022_14_3_110
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