The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
J Clin Res Pediatr Endocrinol. 2023 Nov 22;15(4):438-443. doi: 10.4274/jcrpe.galenos.2022.2021-12-24. Epub 2022 May 31.
Neurofibromatosis-Noonan syndrome (NFNS), a rare autosomal-dominant hereditary disease, is characterized by clinical manifestations of both neurofibromatosis type 1 () and NS. We present a case of NFNS with short stature caused by a heterozygous nonsense variant of the gene. A 12-year-old boy was admitted because of short stature, numerous café-au-lait spots, low-set and posteriorly rotated ears, sparse eyebrows, broad forehead, and inverted triangular face. Cranial and spinal magnetic resonance imaging showed abnormal nodular lesions. Molecular analysis revealed a novel heterozygous c.6189 C > G (p.(Tyr2063*)) variant in the gene. The patient was not prescribed recombinant growth hormone (GH) therapy because exogenous GH may have enlarged the abnormal skeletal lesions. During follow-up, Lisch nodules were found in the ophthalmologic examination. NFNS, a variant form of , is caused by heterozygous mutations in the gene. The mechanism of GH deficiency caused by is still unclear. Whether NFNS patients should be treated with exogenous GH remains controversial.
神经纤维瘤病-Noonan 综合征（NFNS）是一种罕见的常染色体显性遗传性疾病，其临床特征同时具有 1 型神经纤维瘤病（NF1）和 NS 的表现。我们报告了一例由基因杂合无义变异引起的 NFNS 合并身材矮小病例。一名 12 岁男孩因身材矮小、多发性咖啡牛奶斑、低位和后旋耳、稀疏眉毛、宽额头和倒三角形脸而入院。头颅和脊柱磁共振成像显示异常结节性病变。分子分析显示基因中存在一个新的杂合 c.6189 C > G（p.（Tyr2063*））变异。由于外源性 GH 可能会使异常骨骼病变增大，因此未给该患者开具重组生长激素（GH）治疗。在随访中，眼科检查发现了 Lisch 结节。NFNS 是 的一种变异形式，由基因中的杂合突变引起。导致 GH 缺乏的机制仍不清楚。NFNS 患者是否应使用外源性 GH 治疗仍存在争议。
