Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 6, 2022; 10(31): 11597-11606
Published online Nov 6, 2022. doi: 10.12998/wjcc.v10.i31.11597
Hemorrhagic shock due to ruptured lower limb vascular malformation in a neurofibromatosis type 1 patient: A case report
Li-Ping Shen, Gang Jin, Rang-Teng Zhu, Han-Tao Jiang
Li-Ping Shen, Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province affiliated to Wenzhou Medical University, Taizhou 318000, Zhejiang Province, China
Li-Ping Shen, Department of Clinical Laboratory, Enze Hospital, Taizhou Enze Medical Center (Group), Taizhou 318000, Zhejiang Province, China
Gang Jin, Rang-Teng Zhu, Han-Tao Jiang, Department of Orthopedics, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Taizhou 318000, Zhejiang Province, China
Gang Jin, Rang-Teng Zhu, Han-Tao Jiang, Department of Orthopedics, Enze Hospital, Taizhou Enze Medical Center (Group), Taizhou 318000, Zhejiang Province, China
Author contributions: Shen LP wrote the manuscript; Jin G followed up with the patient; Zhu RT performed the surgery; Jiang HT designed the research study; All authors have read and approve the final manuscript.
Informed consent statement: Written informed consent was obtained from the patient.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Han-Tao Jiang, MM, Attending Doctor, Department of Orthopedics, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, No. 1 East Tongyang Road, Taizhou 318000, Zhejiang Province, China. jianght5652@enzemed.com
Received: July 1, 2022
Peer-review started: July 1, 2022
First decision: September 5, 2022
Revised: September 15, 2022
Accepted: September 27, 2022
Article in press: September 27, 2022
Published online: November 6, 2022
Processing time: 117 Days and 14 Hours
Abstract
BACKGROUND

Neurofibromatosis type 1 (NF-1) is a common autosomal dominant genetic disorder. It is characterized by café-au-lait spots and cutaneous neurofibromas. Although NF-1 typically involves the skin, nerves, bones, and eyes, vascular manifestation in the form of devastating hemorrhage can occur rarely.

CASE SUMMARY

We present the case of a 47-year-old female with NF-1 who had a ruptured right lower limb arterial malformation. She presented with sudden right lower limb swelling for two hours and symptoms of hemorrhagic shock on admission. The physical examination revealed a right lower limb presenting as elephantiasis and visible dark-brown pigmentation over a large area. Computed tomography angiography showed right lower limb arteriovenous malformation. Therefore, the patient underwent emergency right lower limb digital subtraction angiography (DSA) and vascular embolization after blood transfusions. However, after DSA, vascular embolization, and repeated blood transfusions, the anemia and right lower limb swelling and tenderness did not improve. As a result, the patient underwent right lower extremity above-knee amputation. After amputation, the patient's hemoglobin level improved significantly without blood transfusion, and she was discharged from the hospital after the incision healed. Postoperative pathological examination suggested neurogenic tumors. No other complications had occurred 1-year follow-up.

CONCLUSION

Vascular malformation and rupture are fatal complications of NF-1. Embolization may not provide complete relief, the patient might need to undergo neurofibroma resection or amputation.

Keywords: Neurofibromatosis type 1; Vascular malformation; Hemorrhagic shock; Vascular embolization; Above-knee amputation; Case report

Core Tip: We present the case of a 47-year-old female with neurofibromatosis type 1 with a rupture of right lower limb arterial malformation. She presented with sudden right lower limb swelling for two hours and symptoms of hemorrhagic shock on admission. Computed tomography angiography showed right lower limb arteriovenous malformation, and the patient underwent emergency vascular embolization. However, the patient did not experience any improvement in hemorrhagic shock symptoms. As a result, the patient underwent right lower extremity above-knee amputation. After amputation, the patient's hemoglobin level improved significantly without blood transfusion, and she was discharged from the hospital after the incision healed.