An Interesting Case of Neurofibromatosis Type 1 with Dysplastic Perineal Artery Vascular Lesion

Case Report

Austin Neurol & Neurosci. 2016;1(1): 1002.

An Interesting Case of Neurofibromatosis Type 1 with Dysplastic Perineal Artery Vascular Lesion

Bajawi MA1#, Mzimbiri JM1,2#, Khamis IH³, Rashid KS1,2, Bajawi MA¹ and Fang LJ¹*

¹Department of Neurology, Xiangya Hospital of Central South University, China

²Department of Neurosurgery, Muhimbili Orthopedic and Neurosurgical Institute, Tanzania

³Department of Radiology, Ocean Road Cancer Institute, Tanzania

#Equally contributed

*Corresponding author: Fang Liang Juan, Department of Neurology, Xiangya Hospital of Central South University, 410008, Changsha, Hunan, China

Received: January 01, 2016; Accepted: January 28, 2016; Published: January 29, 2016


Background: Neurofibromatosis type-1 is characterized by café au lait macules, cutaneous neurofibromas, and gliomas; development of plexiform neurofibromas; a high incidence of orthopedic complications; and relatively high incidence learning disabilities. Few studies have documented on the systemic vasculopathy complication(s) associated with this condition.

In this report, we present an interesting case-based review of a 48-year-old man who had perineal artery bleeding secondary to dysplastic vasculopathy which was managed by interventional artery embolism surgery. We discuss the clinical findings and management plan.

Case Description: A 48-year-old man known patient of NF-1 presented to us with a history of progressive increase in number of café au lait spot lesions, and tenesmus/pain in the perineum for two weeks prior to admission at our emergency department. The buttocks and scrotum were found to be tender and ecchymosed with bulla. His abdominal-pelvic Computerized Tomography (CT) scan findings revealed left perineum hematoma and effusions, and bilateral scrotum and penis sheath cavity hematocele or hydrops. His CT angiography done at another center reported perineal artery injury.

Conclusion: Our presented case demonstrated obvious dermatological lesions with dysplastic vascular complication but remarkably fewer ocular and neurological sequelae. We advise more studies to be done to focus on the cause(s) of arterial bleeding in patients with NF-1.

Keywords: Café au lait macules; Ecchymosis; Neufibromatosis type 1; Perineum hematoma; Vasculopathy


CALM: Café au lait macules; CT: Computerized Tomography; CNS: Central Nervous System; INR: International Normalized Ratio; MRI: Magnetic Resonance Imaging; NF: Neurofibromatosis; OPG: Optic pathway glioma; PT: Prothrombin Time; WHO: World Health Organization


Neurofibromatosis (NF) refers to a group of genetic disorder that primarily affects the growth of neural tissues. Occurring in two forms namely NF type 1 and NF type 2; the former which is also known as Von Recklinghausen’s disease, is the most common type and accounts for about 90% of all NF cases with a prevalence of 1 case per 3,000 births [1]. Only 50% of NF-1 patients have positive family history of the disease; the rest of the patients represent spontaneous mutation [2].

The neurofibromas represent the major cause of morbidity and mortality; they affect long portions of nerves, infiltrate the nerve and surrounding tissue, resulting in widespread disfiguration and mechanical complications. We report a case of a 48-year old patient with NF-1 and briefly discuss the clinical manifestations and management plan.

Case Report

Presentation and examination

A 48-year-old man, construction worker and a known patient of NF-1 presented to our emergency department with a history of itchy, sudden progressing increase in number of skin lesions, and pain in the perineum for two weeks prior to admission. The dull aching moderate pain was associated with tenesmus and numbness of the buttocks more on the left side. The patient reported that he had never experienced such symptoms before since he was newly diagnosed at the age of 6-year-old. He denied the history of hearing loss and poor vision. He also reported to enjoy the full psychosocial support from his family members including his father who has similar condition like him.

On physical examination the patient showed an acutely ill appearance, but oriented and a febrile. His Rosenbaum V/A was found to be 6/24. Evaluation of his mathematical calculation was normal.

On local examination, the patient had multiple café au lait macules located at his back. His buttocks were tender, ecchymosed and with bulla (Figure 1). Digital Rectal Examination (DRE) revealed no palpable mass in the rectum.

Citation: Bajawi MA, Mzimbiri JM, Khamis IH, Rashid KS, Bajawi MA and Fang LJ. An Interesting Case of Neurofibromatosis Type 1 with Dysplastic Perineal Artery Vascular Lesion. Austin Neurol & Neurosci. 2016; 1(1): 1002.