Genetic Characteristics,Diagnosis and Treatment of Short Stature in 14 children with Neurofibromatosis Type 1
10.3870/j.issn.1004-0781.2024.12.017
- VernacularTitle:14例身材矮小儿童神经纤维瘤病Ⅰ型的临床诊治及遗传学特征
- Author:
Aoyu YANG
1
;
Hao FU
;
Yan LIANG
Author Information
1. 华中科技大学同济医学院附属同济医院儿科,武汉 430030
- Keywords:
Neurofibromatosis type 1;
Short stature;
Café-au-lait spot;
Recombinant human growth hormone
- From:
Herald of Medicine
2024;43(12):1981-1987
- CountryChina
- Language:Chinese
-
Abstract:
Objective This study aims to analyze the clinical and genetic characteristics of 14 children with neurofibromatosis type 1(NF1)presenting with short stature,with the goal of enhancing clinical awareness and promoting early diagnosis and intervention.Methods Clinical data were collected from 14 children diagnosed with NF1 and short stature at Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,between May 2017 and June 2024.The clinical characteristics,treatment approaches,and follow-up outcomes were analyzed.Results Among the 14 patients,there were 7 boys and 7 girls.The average age at diagnosis was 6.61±3.53 years old,with a height standard deviation score(SDS)of-2.60±0.66.All patients had scattered café-au-lait spots on their skin,with an averaging number of 9.64±4.86,and the largest diameter was 6 cm.Genetic testing identified five types of NF1 gene mutations:6 nonsense mutations,4 missense mutations,2 frameshift mutations,1 splice mutation,and 1 whole-gene mutation.During the follow-up,three patients developed cutaneous neurofibromas during puberty,four experienced an increase in the number of café-au-lait spots,and one developed tibial pseudarthrosis.Growth hormone(GH)stimulation tests were conducted on 10 patients.Two patients with GH deficiency received recombinant human growth hormone(rhGH)treatment,which resulted in a slightly increase in their growth rate.The remaining 12 children,who did not receive rhGH treatment,showed no significant change in growth rate during follow-up.Conclusion The clinical manifestations of NF1 are diverse and age-related.In children with short stature and multiple café-au-lait spots,NF1 should be considered as a potential diagnosis.Genetic testing should be conducted if necessary,and regular monitoring is essential to assess the disease's evolution and to enable prompt interventional strategeies.
