Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution

  • Neurofibromatosis type 1 (NF1) is a phenotypically heterogenous multisystem cancer predisposition syndrome manifesting in childhood and adolescents. Central nervous system (CNS) manifestations include structural, neurodevelopmental, and neoplastic disease. We aimed to (1) characterize the spectrum of CNS manifestations of NF1 in a paediatric population, (2) explore radiological features in the CNS by image analyses, and (3) correlate genotype with phenotypic expression for those with a genetic diagnosis. We performed a database search in the hospital information system covering the period between January 2017 and December 2020. We evaluated the phenotype by retrospective chart review and imaging analysis. 59 patients were diagnosed with NF1 [median age 10.6 years (range, 1.1–22.6); 31 female] at last follow-up, pathogenic NF1 variants were identified in 26/29. 49/59 patients presented with neurological manifestations including 28 with structural and neurodevelopmental findings, 16 withNeurofibromatosis type 1 (NF1) is a phenotypically heterogenous multisystem cancer predisposition syndrome manifesting in childhood and adolescents. Central nervous system (CNS) manifestations include structural, neurodevelopmental, and neoplastic disease. We aimed to (1) characterize the spectrum of CNS manifestations of NF1 in a paediatric population, (2) explore radiological features in the CNS by image analyses, and (3) correlate genotype with phenotypic expression for those with a genetic diagnosis. We performed a database search in the hospital information system covering the period between January 2017 and December 2020. We evaluated the phenotype by retrospective chart review and imaging analysis. 59 patients were diagnosed with NF1 [median age 10.6 years (range, 1.1–22.6); 31 female] at last follow-up, pathogenic NF1 variants were identified in 26/29. 49/59 patients presented with neurological manifestations including 28 with structural and neurodevelopmental findings, 16 with neurodevelopmental, and 5 with structural findings only. Focal areas of signal intensity (FASI) were identified in 29/39, cerebrovascular anomalies in 4/39. Neurodevelopmental delay was reported in 27/59 patients, learning difficulties in 19/59. Optic pathway gliomas (OPG) were diagnosed in 18/59 patients, 13/59 had low-grade gliomas outside the visual pathways. 12 patients received chemotherapy. Beside the established NF1 microdeletion, neither genotype nor FASI were associated with the neurological phenotype. NF1 was associated with a spectrum of CNS manifestations in at least 83.0% of patients. Regular neuropsychological assessment complementing frequent clinical and ophthalmologic testing for OPG is necessary in the care of each child with NF1.show moreshow less

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Author:Daniela Angelova-Toshkina, Josua A. Decker, Thomas Traunwieser, Johannes Holzapfel, Stefanie Bette, Simon Huber, Mareike SchimmelORCiDGND, Kurt Vollert, Brigitte Bison, Thomas KrönckeORCiDGND, Nuria C. Bramswig, Dagmar Wieczorek, Astrid Katharina GnekowORCiDGND, Michael C. FrühwaldGND, Michaela KuhlenGND
URN:urn:nbn:de:bvb:384-opus4-1030473
Frontdoor URLhttps://opus.bibliothek.uni-augsburg.de/opus4/103047
ISSN:1090-3798OPAC
Parent Title (English):European Journal of Paediatric Neurology
Publisher:Elsevier BV
Place of publication:Amsterdam
Type:Article
Language:English
Year of first Publication:2023
Publishing Institution:Universität Augsburg
Release Date:2023/03/21
Tag:Neurology (clinical); General Medicine; Pediatrics, Perinatology and Child Health
Volume:43
First Page:52
Last Page:61
DOI:https://doi.org/10.1016/j.ejpn.2023.02.006
Institutes:Medizinische Fakultät
Medizinische Fakultät / Universitätsklinikum
Medizinische Fakultät / Lehrstuhl für Diagnostische und Interventionelle Radiologie
Medizinische Fakultät / Lehrstuhl für Kinder- und Jugendmedizin
Medizinische Fakultät / Lehrstuhl für Diagnostische und Interventionelle Neuroradiologie
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit
Licence (German):CC-BY-NC-ND 4.0: Creative Commons: Namensnennung - Nicht kommerziell - Keine Bearbeitung (mit Print on Demand)