| Autor: |
Begül Yağcı-küpeli, Şule Çalışkan Kamış |
| Jazyk: |
English<br />Turkish |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Cukurova Medical Journal, Vol 46, Iss 2, Pp 646-653 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2602-3040 |
| DOI: |
10.17826/cumj.876942 |
| Popis: |
Purpose: In this study, it was aimed to evaluate the clinical, radiological and genetic features of children who were followed up with the diagnosis of Neurofibromatosis type 1 (NF-1). Materials and Methods: Patients who were 0-18 years diagnosed with Neurofibromatosis according to National Institute of Health 1988 criteria between September 2012 and September 2019 were included in the study. Patient data were collected through patient files and hospital information system. Results: A total of 50 patients were included in the study. The male/female ratio was 0.92. The median age at the time of diagnosis was 5.6 years (age range: 1-18 years). The most common finding was cafe-au-lait spots detected in all patients. Family history was found in 60% of the patients and consanguinity between parents in 14%. Neurofibroma was detected in 12%, Lisch nodule in 36% of the patients. Axillary freckling ratio was 82%, inguinal freckling ratio was 78%. Tumors were found in 22% of the patients, optic glioma in 12%, and plexiform neurofibroma in 6%. Focal areas of signal intensity (FASI) was found 56% in cranial magnetic resonance imaging (MRI). Conclusion: The relationship between mutation type and clinical and radiological features in NF-1 was evaluated. There was no statistically significant difference in clinical and radiological findings between patients with or without mutation. Large-scale studies are needed to reveal the factors that determine the clinical phenotype in patients with NF-1 diagnosis. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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