Lee Meng-Luen, Chang Tung-Ming, Yang Rei-Cheng, Yang Albert D, Chen Ming
Department of Pediatric Neurology, Department of Pediatrics, Changhua Christian Children's Hospital, Changhua.
Departments of Medical Imaging, Changhua Christian Children's Hospital, Changhua.
Turk J Pediatr. 2019;61(4):629-634. doi: 10.24953/turkjped.2019.04.026.
Lee ML, Chang TM, Yang RC, Yang AD, Chen M. Systemic hypertension followed by insidious stroke in a 12-year-old boy with childhood neurofibromatosis type 1 presenting with renal and cerebral artery vasculopathy. Turk J Pediatr 2019; 61: 629-634. Neurofibromatosis type 1 (NF1)-associated vasculopathy is usually diagnosed decades after the clinical diagnosis of NF1. Childhood NF1-associated renal artery vasculopathy or moyamoya-like brain vasculopathy could be clinically silent for a long time. We report a 12-year-old boy who had systemic hypertension found incidentally at a routine check-up. Physical examination showed caféau- lait spots and strong radial pulses. Abdominal computerized tomography angiography showed severe right ostial renal artery stenosis. Genomic study showed a heterozygous mutation c.5902C > T (p.R1968*) and two heterozygous single nucleotide polymorphisms (NCBI: SNP rs18011052 and rs2905876) of NF1 gene. After endovascular revascularization for renovascular hypertension caused by renal artery stenosis, including percutaneous transluminal renal angioplasty and stent implantation, blood pressure dropped effectively from 205/143 mmHg to 130/90 mmHg. Supine renin level dropped from 87.2 pg/ mL to 47.9 pg/mL. Unfortunately, right hemiplegia, transient visual loss with blind spots (scotomas), and clumsiness of extremities emerged insidiously 3.5 months later. Brain magnetic resonance imaging and magnetic resonance angiography showed ischemic infarction involving the watershed area of the anterior and middle cerebral arteries, indicating presence of moyamoya-like brain vasculopathy. A dilemma is that a significant decrease of blood pressure after endovascular revascularization for renal artery stenosis may have potentially unmask the moyamoya-like brain vasculopathy in this patient. Vasculopathy could be heralding childhood NF1 in the young patients without full-fledged clinical features. Endovascular revascularization for renal artery stenosis could be a double-edge sword in childhood NF1 presenting with concomitant renal and cerebral artery vasculopathy.
李 ML、张 TM、杨 RC、杨 AD、陈 M。一名 12 岁患有 1 型儿童神经纤维瘤病的男孩，伴有肾和脑动脉血管病变，出现隐匿性中风前有系统性高血压。《土耳其儿科学杂志》2019 年；61: 629 - 634。1 型神经纤维瘤病（NF1）相关的血管病变通常在 NF1 临床诊断数十年后才被诊断出来。儿童期 NF1 相关的肾动脉血管病变或烟雾病样脑血管病变在临床上可能长期无症状。我们报告一名 12 岁男孩，在常规体检时偶然发现有系统性高血压。体格检查发现有咖啡牛奶斑和强劲的桡动脉搏动。腹部计算机断层扫描血管造影显示严重的右侧肾动脉开口处狭窄。基因组研究显示 NF1 基因有一个杂合突变 c.5902C > T（p.R1968*）和两个杂合单核苷酸多态性（NCBI：SNP rs18011052 和 rs2905876）。在对由肾动脉狭窄引起的肾血管性高血压进行血管内血运重建后，包括经皮腔内肾血管成形术和支架植入，血压从 205/143 mmHg 有效降至 130/90 mmHg。仰卧位肾素水平从 87.2 pg/mL 降至 47.9 pg/mL。不幸的是，3.5 个月后逐渐出现右侧偏瘫、伴有盲点（暗点）的短暂视力丧失以及肢体笨拙。脑部磁共振成像和磁共振血管造影显示缺血性梗死累及大脑前动脉和大脑中动脉的分水岭区域，提示存在烟雾病样脑血管病变。一个困境是，对肾动脉狭窄进行血管内血运重建后血压显著下降，可能潜在地使该患者的烟雾病样脑血管病变显现出来。血管病变可能是在没有典型临床特征的年轻患者中预示儿童期 NF1 的表现。对肾动脉狭窄进行血管内血运重建对于伴有肾和脑动脉血管病变的儿童期 NF1 可能是一把双刃剑。
