International Journal of Medical Case Reports

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Case Series: Neurofibromatosis Type 1 in 8 Pediatric Patients; Genotype and Phenotype Analysis

Neurofibromatosis type I is a multi-systemic disorder caused by variants in the neurofibromin, a gene on chromosome 17 that regulates a variety of cellular functions important for tumorigenesis. Clinically it is characterized by multiple café-au-lait spots, intertriginous freckling, neurofibromas, and learning disability or behavior problems. Neurofibromatosis type I is inherited in an autosomal dominant manner, but approximately half of those afflicted have the condition as a result of a de novo disease-causing variant. In this case series, we present 8 pediatric patients at Mother Teresa University Hospital Center in Tirana, Albania whose genetic diagnosis was confirmed by Whole exome sequencing including Next-generation sequencing-based Copy number variation analysis. Based on our clinical findings, they all meet the revised clinical diagnostic criteria of Neurofibromatosis type I by the International Consensus Conference held in 2021. In 5 of them, the variant was inherited from one of the parents, while in the remaining 3 the variant was de novo. Herein we discuss each genotype detected, the coordinates, class, and the modifications they induce in the neurofibromin protein. We also discuss our patients’ phenotypes; the cases of two pairs of siblings with identical inherited variants but with different clinical manifestations caught our interest, but studies confirm that the phenotype varies even among individuals with identical variants. In the end, identifying the signs and symptoms early and with certainty and rapidly assigning the cases to qualified healthcare professionals is important for patients with neurofibromatosis type I.

Neurofibromatosis 1, NF1, Rare Diseases, Pediatric Patients

APA Style

Afërdita Tako Kumaraku, Kristi Aleksi, Aida Bushati, Armand Shehu, Blerina Saraçi, et al. (2023). Case Series: Neurofibromatosis Type 1 in 8 Pediatric Patients; Genotype and Phenotype Analysis. International Journal of Medical Case Reports, 2(2), 8-11. https://doi.org/10.11648/j.ijmcr.20230202.11

ACS Style

Afërdita Tako Kumaraku; Kristi Aleksi; Aida Bushati; Armand Shehu; Blerina Saraçi, et al. Case Series: Neurofibromatosis Type 1 in 8 Pediatric Patients; Genotype and Phenotype Analysis. Int. J. Med. Case Rep. 2023, 2(2), 8-11. doi: 10.11648/j.ijmcr.20230202.11

AMA Style

Afërdita Tako Kumaraku, Kristi Aleksi, Aida Bushati, Armand Shehu, Blerina Saraçi, et al. Case Series: Neurofibromatosis Type 1 in 8 Pediatric Patients; Genotype and Phenotype Analysis. Int J Med Case Rep. 2023;2(2):8-11. doi: 10.11648/j.ijmcr.20230202.11

Copyright © 2023 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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