Navharsh Sekhon, MD
Resident Physician
The Wright Center for Graduate Medical Education
Scranton, Pennsylvania
Disclosure information not submitted.
Yamini Patel, MD, MS
The Wright Center for Graduate Medical Education
Scranton, Pennsylvania
Disclosure information not submitted.
Kristina Tanovic, MD
Physician
The Wright Center for Graduate Medical Education, United States
Disclosure information not submitted.
Title: Hemorrhage into Neurofibroma with anticoagulant use in Neurofibromatosis Type I
Case Report Body
Introduction: Neurofibromatosis (NF) Type I is an autosomal dominant disorder caused by a mutation in a tumor suppressor gene known as the NF1 gene. It has diverse clinical manifestations consisting of cafe-au-lait spots, freckling in the inguinal and axillary region, lisch nodules, dermal and plexiform neurofibromas with a widely variable course involving multiple organs.
Description: A 67-year-old female with a history of NF type I and atrial fibrillation on coumadin, presented with right lower extremity pain and swelling for 4 days. The pain was characterized as sharp, severe, radiating from the knee to toes resulting in an inability to bear weight. There was no history of trauma. Physical exam was notable for diffuse cutaneous neurofibromas, cafe au lait spots, and a medially, internally rotated edematous right lower extremity with motor strength 3/5. Pertinent labs include leukocytosis of 22 k/uL, hemoglobin 11.4 g/dl, (INR) 8.74, prothrombin time 83.6. The patient was treated with intravenous steroids, gabapentin, and duloxetine for acute radiculopathy. Coumadin was held due to supratherapeutic INR and vitamin K was given. An arterial duplex of the right leg showed a 2.8 x 5.1 x 4.4 cm abnormality in the right distal thigh and a 6.9 x 7.1 cm abnormality in the popliteal fossa with mass effect on the popliteal and distal femoral arteries. The patient deteriorated in the next 24 hours with a decrease in motor strength to 0/5. Despite round-the-clock narcotic administration patient could not comply with MRI of the lumbar spine and right lower extremity due to severe pain. Hemorrhage into the neurofibroma causing enlargement of the mass with mass effect on arteries and nerves was suspected necessitating the need for immediate surgical intervention.
Discussion: NF type I has an increased predisposition to develop benign/malignant tumors, neurological deficits, and skeletal deformities. In our case, the neurofibromas were enlarging in a relatively short period due to bleeding leading to compartment syndrome from coumadin use. To our knowledge, this is the first reported case of anticoagulation-related bleeding in a neurofibroma mass and highlights the importance of monitoring for adverse effects of anticoagulant use in NF type 1.