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CASE REPORT
Multiple sclerosis in a child with neurofibromatosis type I – clinical management of a challenging case
1
Student Scientific Society, Department of Paediatric Haematology, Oncology and Transplantology, Medical University, Lublin, Poland
2
Department of Paediatric Haematology, Oncology and Transplantology, Medical University, Lublin, Poland
3
Laboratory of Genetic Diagnostics, Department of Paediatric Haematology, Oncology and Transplantology, Medical University, Lublin, Poland
Corresponding author
Kamil Kośmider
Student Scientific Society, Department of Paediatric Haematology, Oncology and Transplantology, Medical University, Lublin, Poland
Student Scientific Society, Department of Paediatric Haematology, Oncology and Transplantology, Medical University, Lublin, Poland
Ann Agric Environ Med. 2022;29(2):309-315
KEYWORDS
TOPICS
ABSTRACT
A 13-year-old girl with neurofibromastosis (NF1) was admitted to the Department of Paediatric Haematology, Oncology and Transplantology due to progressive vision loss in September 2018. The patient was diagnosed with optic nerve gliomas and chemotherapy was initiated. During the treatment, the girl experienced muscle weakness in the lower limbs, and uncharacteristic lesions were detected in the spinal cord. Eventually, the girl was diagnosed with MS. The described case is one of the few reports of a child with coexisting NF1 and MS. The coincidence of these diseases is unusual and requires a multidisciplinary approach. Vision impairment in patients suffering from NF1 is typically associated with optic nerve gliomas, although it can be caused by other factors, such as MS, which is proven to have a higher prevalence in the NF1 population. Extensive ophthalmological diagnostics may not be conclusive, thus there is a need for the thorough neurological evaluation of patients with NF1 and visual deficits.
REFERENCES (24)
1.
Ly K, Blakeley J. The Diagnosis and Management of Neurofibromatosis Type 1. Med Clin North Am. 2019; 103(6): 1035–1054. https://doi.org/10.1016/j.mcna....
2.
Crump T. Translation of case reports in Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen by F. v. Recklinghausen. Adv Neurol. 1981; 29: 259–275.
3.
Antônio JR, Goloni-Bertollo EM, Trídico LA. Neurofibromatosis: chronological history and current issues. An Bras Dermatol. 2013; 88(3): 329–343. https://doi:10.1590/abd1806-48....
4.
Messiaen LM. Molecular Diagnosis for NF1. In: Tadini G, Legius E, Brems H, editors. Multidisciplinary Approach to Neurofibromatosis Type 1. Cham: Springer International Publishing; 2020. p. 15–34.
5.
Bergoug M, Doudeau M, Godin F, et al. Neurofibromin Structure, Functions and Regulation. Cells. 2020; 9(11): 2365. https://doi.org/10.3390/cells9....
6.
Kallionpää RA, Uusitalo E, Leppävirta J, et al. Prevalence of neurofibromatosis type 1 in the Finnish population. Genet Med. 2018; 20(9): 1082–1086. https://doi.org/10.1038/gim.20...
7.
Uusitalo E, Leppävirta J, Koffert A, et al. Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol. 2015; 135(3): 904–906. https://doi.org/10.1038/jid.20....
9.
Legius E, Messiaen L, Wolkenstein P, et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021. https://doi.org/10.1038/s41436....
10.
Trevisson E, Cassina M, Opocher E, et al. Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1. J Neurooncol. 2017; 134(2): 279–287. https://doi.org/10.1007/s11060....
11.
Sellmer L, Farschtschi S, Marangoni M, et al. Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1. Orphanet J Rare Dis. 2018; 13(1): 62. https://doi.org/10.1186/s13023....
12.
Prada C, Hufnagel R, Hummel T, et al. The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1. J Pediatr. 2015; 167(4): 851–856. https://doi.org/10.1016/j.jped....
13.
Campen CJ, Gutmann DH. Optic Pathway Gliomas in Neuro-fibro matosis Type 1. J Child Neurol. 2018; 33(1): 73–81. https://doi.org/10.1177/088307....
14.
Multiple Sclerosis International Federation. Atlas of MS 2013: mapping multiple sclerosis around the world. Mult Scler Int Fed http://www.msif.org/about-us/a... (access: 2021.05.14).
15.
Alroughani R, Boyko A. Pediatric multiple sclerosis: a review. BMC Neurol. 2018; 18(1): 27. https://doi.org/doi: 10.1186/s12883-018-1026-3.
16.
Madubata CC, Olsen MA, Stwalley DL, et al. Neurofibromatosis type 1 and chronic neurological conditions in the United States: an administrative claims analysis. Genet Med. 2015; 17(1): 36–42. https://doi.org/10.1038/gim.20....
17.
Reinhardt K, Weiss S, Rosenbauer J, et al. Multiple sclerosis in children and adolescents: incidence and clinical picture – new insights from the nationwide German surveillance (2009–2011). Eur J Neurol. 2014; 21(4): 654–659. https://doi.org/10.1111/ene.12....
18.
Suresh P, Kapoor R, Kapur BN. Severe neurotoxicity due to Vinblastine in Hodgkin lymphoma. South Asian J Cancer. 2014; 3(2): 147–148. https://doi.org/10.4103/2278-3....
19.
Boesen MS, Born AP, Jensen PEH, et al. Diagnostic Value of Oligoclonal Bands in Children: A Nationwide Population-Based Cohort Study. Pediatr Neurol. 2019; 97: 56–63. https://doi.org/10.1016/j.pedi....
20.
Wingerchuk DM, Banwell B, Bennett JL, et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015; 85(2): 177–189. https://doi.org/10.1212/WNL.00....
21.
Krupp LB, Tardieu M, Amato MP, et al. International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions. Mult Scler. 2013; 19(10): 1261–1267. https://doi.org/10.1177/135245....
22.
Etemadifar M, Fatehi F, Sahraian MA, et al. Multiple sclerosis and neurofibromatosis type 1: report of seven patients from Iran. Mult Scler. 2009; 15(9): 1126–1130. https://doi.org/10.1177/135245....
23.
Bergqvist C, Hemery F, Ferkal S, et al. Neurofibromatosis I and multiple sclerosis. Orphanet J Rare Dis. 2020; 15(1): 186. https://doi.org/10.1186/s13023....
24.
Johnson MR, Ferner RE, Bobrow M, et al. Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis. J Neurol Neurosurg Psychiatry. 2000; 68(5): 643–646. https://doi.org/10.1136/jnnp.6....
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