Severe Hypertension Leading to Hemorrhagic Stroke in Neurofibromatosis Type 1.

Mohamed Faris,Vinod Nambudiri,Robert Coni,Michelle Baliss

doi:10.7759/cureus.14658

Abstract

Neurofibromatosis type 1 (NF-1), also known as von Recklinghausen’s disease, is an autosomal dominant multisystem genetic disorder affecting one in 2,600 individuals. It is caused by a mutation of the NF-1 gene located on chromosome 17q11.2. It is characterized by various cutaneous findings, including cafe-au-lait spots and axillary freckling. Hypertension is a commonly reported finding in adult patients with NF-1 but may also develop during childhood. In most cases, hypertension in NF-1 patients is primary in nature; however, secondary hypertension has been more frequently reported in NF-1 patients due to the association of NF-1 with an increased incidence of pheochromocytomas, bilateral renal artery stenosis, and coarctation of the abdominal aorta. This case reports the consequences of uncontrolled hypertension in a 23-year-old female with NF-1, illustrating the importance of screening for hypertension in children diagnosed with NF-1, and emphasizing the higher incidence of both primary and secondary causes of hypertension in the NF-1 patient population. In this case, no secondary causes of hypertension were found; therefore, a diagnosis of primary hypertension was made and the appropriate therapy was initiated to prevent further complications.

Highlights

Neurofibromatosis type 1 (NF-1), the most common of three distinct types of neurofibromatosis, is a hereditary autosomal dominant genetic disorder occurring due to mutations in the NF-1 gene on chromosome 17
Hypertension in NF-1 patients is primary in nature; secondary hypertension has been more frequently reported in NF-1 patients due to the association of NF-1 with an increased incidence of pheochromocytomas, bilateral renal artery stenosis, and coarctation of the abdominal aorta
NF-1 is associated with a higher incidence of secondary causes of hypertension, most commonly due to vascular abnormalities, such as bilateral renal artery stenosis and coarctation of the abdominal aorta, and less commonly due to pheochromocytomas and certain intracranial tumors [2,3]

Summary

Introduction

Neurofibromatosis type 1 (NF-1), the most common of three distinct types of neurofibromatosis, is a hereditary autosomal dominant genetic disorder occurring due to mutations in the NF-1 gene on chromosome 17. The case demonstrates the importance of frequent screening for hypertension in children diagnosed with NF-1, given the higher incidence of primary hypertension and the association with vascular lesions that could predispose NF-1 patients to secondary causes of hypertension. It highlights the importance of the early initiation of antihypertensives and frequent patient evaluation to ensure that the blood pressure is adequately controlled. Given her neurologic findings on presentation, a non-contrast computed tomography (CT) scan of the head and a magnetic resonance imaging (MRI) scan of the brain were performed, both revealing a hemorrhagic cerebrovascular accident affecting her right parietal lobe and right basal ganglia (Figure 3). The patient’s blood pressure eventually decreased over the course of her hospital stay to 140/90 mmHg, and she was discharged to a stroke rehabilitation facility

Discussion

Conclusions

Findings

Disclosures

Young WF Jr