Jacobsen syndrome. Literature review and a case report
https://doi.org/10.17650/2073-8803-2022-17-2-55-60
Abstract
The article presents a literature review of chromosomal deletion syndrome – terminal deletion of the long arm of chromosome 11, Jacobsen syndrome, manifested by skeletal abnormalities, congenital heart defects, developmental delay, autism. The disease is of clinical interest in connection with a specific phenotype and life-threatening, but potentially curable conditions: bleeding and immunodeficiency. The analysis of informationally significant genes of the chromosome 11 deletion site is presented. A case report of a girl with Jacobsen syndrome with a follow-up history of up to 6 years is presented. In the observed case, previously unremarked symptoms were described: ataxia and retropulsion. The differential diagnosis and criteria for hypomyelination syndrome are also analyzed. Recommendations are given for the management of life-threatening conditions in patients in accordance with American protocols.
About the Authors
A. V. Syrkina
V.I. Shumakov National Medical Research Center for Transplantation and Artificial Organs, Ministry of Health of Russia
Russian Federation
Russian Federation
Alla Vladislavovna Syrkina
1 Shchukinskaya St., Moscow 123182
N. V. Chebanenko
Russian Medical Academy of Postgraduate Education, Ministry of Health of Russia
Russian Federation
Russian Federation
Department of Pediatric Neurology
build. 1, 2/1 Barrikadnaya St., Moscow 125993
V. P. Zykov
Russian Medical Academy of Postgraduate Education, Ministry of Health of Russia
Russian Federation
Russian Federation
Department of Pediatric Neurology
build. 1, 2/1 Barrikadnaya St., Moscow 125993
N. S. Mikhailova
Children’s City Polyclinic No. 94 branch No. 3
Russian Federation
Russian Federation
build. 1, 18 / 1 Demyana Bednogo St., Moscow 123308
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Review
For citations:
Syrkina A.V., Chebanenko N.V., Zykov V.P., Mikhailova N.S. Jacobsen syndrome. Literature review and a case report. Russian Journal of Child Neurology. 2022;17(2):55-60. (In Russ.) https://doi.org/10.17650/2073-8803-2022-17-2-55-60
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