Email this article 
Post a Comment Clinical cases of neurofibromatosis (plexiform nodes)
- Authors: Malkova A.A.1, Molchanova E.G.1, Fattakhova A.R.1, Zaripova A.L.1, Pchelovodova Y.N.1
-
Affiliations:
- Izhevsk State Medical Academy
- Issue: Vol 40, No 3 (2023)
- Pages: 122-130
- Section: Clinical case
- URL: https://journals.rcsi.science/PMJ/article/view/254871
- DOI: https://doi.org/10.17816/pmj403122-130
- ID: 254871
Cite item
Full Text
Abstract
The case histories of two patients treated at the Republican Children's Clinical Hospital of the Ministry of Health of the Udmurt Republic were retrospectively analyzed. A seventeen-year-old patient was found to have a heterozygous mutation (deletion 1) in the exon 24 of the NF1 gene, which led to multiple focal changes in the brain, disorders in the cardiovascular, endocrine, reproductive and skeletal systems, and cognitive dysfunctions. In the second case, DNA sequencing revealed a heterozygous mutation (single nucleotide substitution) in the 9th exon of the NF1 gene NM_000267: exon9: c.C910T: p.R304X in a seven-year-old girl. This mutation was reflected in impressive changes in the orbit and deviations in the skeletal system.
Type 1 neurofibromatosis is certainly a complex disease that causes tumors in humans, as well as lesions of the skin, nervous and skeletal systems. The cause of its development is a mutation of the oncosuppressor protein neurofibromin. Treatment of the disease is aimed at reducing the progressive growth of neurofibromas, but it should be noted that a targeted therapy has been developed only for plexiform tumors.
Keywords
Full Text
##article.viewOnOriginalSite##About the authors
Alla A. Malkova
Izhevsk State Medical Academy
Email: alla2597@mail.ru
Candidate of Medical Sciences, Assistant, Department of Neurology, Neurosurgery and Medical Genetics, neurologist
Russian Federation, IzhevskEkaterina G. Molchanova
Izhevsk State Medical Academy
Email: 8951194@mail.ru
neurologist
Russian Federation, IzhevskAlisa R. Fattakhova
Izhevsk State Medical Academy
Author for correspondence.
Email: alisa_fattakhova_2001@mail.ru
Russian Federation, Izhevsk
Albina L. Zaripova
Izhevsk State Medical Academy
Email: albinazaripova1519@gmail.com
student
Russian Federation, IzhevskYulia N. Pchelovodova
Izhevsk State Medical Academy
Email: pcelovodovau@gmail.com
student
Russian Federation, IzhevskReferences
- Great clinical science. Cases from the practice of one therapeutic department: textbook. Edited by A.V. Yagoda. Stavropol: StGMU 2020; 18.
- João Roberto Antônio, Eny Maria Goloni-Bertollo, Lívia Arroyo Trídico Neurofibromatosis: chronological history and current issues. An Bras Dermatol. 2013; 88 (3): 329–343.
- Brosius S. A history of von Recklinghausen's NF1. J Hist Neurosci. 2010; 19 (4): 333–48. doi: 10.1080/09647041003642885
- Shen M.H., Harper P.S., Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF 1). J. Med. Genet. 1996; 2–17.
- Riccardi V.M., Eichner J.E. Neurofibromatosis: Phenotype, Natural History and Pathogenesis. Baltimore. Johns Hopkons University Press 1986.
- Bollag G., McCormick F. Differential regulation of rasGAP and neurofibromatosis gene product activities. Nature 1991; 351 (6327): 576–9. doi: 10.1038/351576a0.
- Hirbe A.C., Gutmann D.H. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014; 13 (3): 834–43. doi: 10.1016/S1474-4422(14)70063-8
- Evans D.G., Baser M.E., McGaughran J. et al. Malignant peripheral nerve sheath tumors in neurofibromatosis 1. J Med Genet 2002; 39 (5): 311–4. doi: 10.1136/jmg.39.5.311
- DeBella K., Szudek J., Friedman J.M. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000; 105 (3 Pt. 1): 608–14. doi: 10.1542/peds.105.3.608
- Cawthon R.M., Weiss R., Xu G. et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell. 1990; 62 (1): 193–201. doi: 10.1016/0092-8674(90)90253-b
- Skvarskaya E.A. Neurofibromatosis: etiology, pathogenesis, treatment. 2014; 5 (2): 55–59.
- Robinson J.T. Integrative genomics viewer. Nat. Biotechnol. 2011; 29: 24–26. doi: 10.1038/nbt.1754.
- Tsipi M., Poulou M., Fylaktou I. et al. Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identifies through NGS and MLPA. J. Neurol. sci. 2018; 395: 95–105. doi: 10.1016/j.jns.2018.10.006.
- Coffa J., van den Berg J. Analysis of MLPA data using novel software coffalyser. NET by MRC-Holland. Modern Approaches To Quality Control. 2011; 125–150.
Supplementary files
