Systemic hypertension followed by insidious stroke in a 12-year-old boy with childhood neurofibromatosis type 1 presenting with renal and cerebral artery vasculopathy

Özet

Neurofibromatosis type 1 (NF1)-associated vasculopathy is usually diagnoseddecades after the clinical diagnosis of NF1. Childhood NF1-associated renalartery vasculopathy or moyamoya-like brain vasculopathy could be clinicallysilent for a long time. We report a 12-year-old boy who had systemic hypertensionfound incidentally at a routine check-up. Physical examination showed caféau-lait spots and strong radial pulses. Abdominal computerized tomographyangiography showed severe right ostial renal artery stenosis. Genomic studyshowed a heterozygous mutation c.5902C>T (p.R1968*) and two heterozygoussingle nucleotide polymorphisms (NCBI: SNP rs18011052 and rs2905876) ofNF1 gene. After endovascular revascularization for renovascular hypertensioncaused by renal artery stenosis, including percutaneous transluminal renalangioplasty and stent implantation, blood pressure dropped effectively from205/143 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 withblind spots (scotomas), and clumsiness of extremities emerged insidiously3.5 months later. Brain magnetic resonance imaging and magnetic resonanceangiography showed ischemic infarction involving the watershed area of theanterior and middle cerebral arteries, indicating presence of moyamoya-likebrain vasculopathy. A dilemma is that a significant decrease of blood pressureafter endovascular revascularization for renal artery stenosis may havepotentially unmask the moyamoya-like brain vasculopathy in this patient.Vasculopathy could be heralding childhood NF1 in the young patients withoutfull-fledged clinical features. Endovascular revascularization for renal arterystenosis could be a double-edge sword in childhood NF1 presenting withconcomitant renal and cerebral artery vasculopathy.