Neurofibromatosis Type 1 in Children: A Single-Center Experience

被引:4
作者
Kacar, Ayse Gonca [1 ]
Oktay, Burcu Kilinc [1 ]
Ozel, Simge Cinar [1 ]
Ocak, Suheyla [1 ]
Gunes, Nilay [2 ]
Alkaya, Dilek Uludag [2 ]
Tuysuz, Beyhan [2 ]
Apak, Hilmi [1 ]
Celkan, Tulin Tiraje [1 ]
机构
[1] Istanbul Univ Cerrahpasa, Dept Pediat Hematol & Oncol, Sch Med, Istanbul, Turkey
[2] Istanbul Univ Cerrahpasa, Dept Genet, Sch Med, Istanbul, Turkey
来源
TURKISH ARCHIVES OF PEDIATRICS | 2021年 / 56卷 / 04期
关键词
Child; inherited neurocutaneous syndrome; neurofibromatosis; optic glioma; OPTIC PATHWAY GLIOMAS; LEARNING-DISABILITIES; NF1; DIAGNOSIS;
D O I
10.5152/TurkArchPediatr.2021.20165
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Objective: Neurofibromatosis (NF) is the most common autosomal dominantly inherited neurocutaneous syndrome. The characteristic features of NF type 1 (NF-1) are cafe au lait spots, axillary and inguinal freckling, peripheral neurofibromas, optic pathway glioma, and Lisch nodules. The present study aimed to analyze the clinical features of children with NF-1. Materials and Methods: In this study, the children with NF-1 diagnosed and followed-up in our center between 2000 and 2020 were retrospectively evaluated. Demographic and clinical features of patients were defined. Results: The study group consisted of 52 patients. Of those, 25 were boys and 27 were girls. The children's median age at diagnosis was 5.9 years (1-15.8). Cafe au lait (CAL) spots and axillary/inguinal freckling were observed in 50 and 24 patients, respectively. Neurofibroma was present in 22 cases. Ten of the cohort had optic gliomas, and 39 of them had cranial hamartomas. Orthopedic complications such as scoliosis, tibial pseudoarthrosis, and osteoporosis were observed in 13 patients. Eleven children had neurocognitive disorders. Conclusions: Early diagnosis is important in neurofibromatosis to prevent the complications of the disease. Also, neurological development and secondary malignancy follow-up should be done carefully in this group of patients.
引用
收藏
页码:339 / 343
页数:5
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