Severe Hypertension Leading to Hemorrhagic Stroke in Neurofibromatosis Type 1

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.