Type 1 neurofibromatosis (NF1), which mainly involves ectodermal tissue arising from the neural crest, can increase the risk of developing
malignant peripheral nerve sheath tumors (MPNSTs),
soft tissue sarcomas and
subarachnoid hemorrhage. We describe a patient with
neurofibromatosis type 1 who developed
soft tissue sarcoma,
MPNST, and
subarachnoid hemorrhage. A 22-year-old male reported right
focal seizures consequence to severe
headache. He had a weakness in both legs, could walk only with the support of a stick for the last 3 months and suffered from
constipation and intermittent
urinary retention for the past 1 week. The patient had a history of swelling in the back of left thigh for which surgical resection was done 6 months back. Cutaneous examination revealed multiple nodules of varying sizes all over the body, along with many café-au-lait spots and Lisch nodule in iris. Patient had weakness in bilateral hip abduction, extension, knee flexion, extension and ankle dorsiflexion and plantiflexion. Bilateral ankle reflexes were absent while other deep tendon reflexes were sub-optimal. A noncontrast computed tomography brain indicated
subarachnoid hemorrhage in left perisylvian region. Ultrasound of left thigh showed a hypoechoic solid lesion in the posterior aspect of left thigh in muscle plane. Histopathology of the lesion following resection showed features suggestive of a low-grade pleomorphic
rhabdomyosarcoma. Histology of cutaneous nodules was consistent with
neurofibroma. Magnetic resonance imaging of the lumbosacral spine demonstrated a
tumor arising from cauda equina. Histopathological examination of the
tumor suggested high-grade
MPNST. Unfortunately, the patient's
MPNST was inoperable, and he received palliative
radiotherapy for local control of the disease. The care of a patient with
neurofibromatosis requires a comprehensive multisystem evaluation.
MPNST occurs in 8-13% patients with
neurofibromatosis. Early diagnosis and surgical resection are key to prolong survival. Though rare,
rhabdomyosarcoma can occur with a higher frequency in NF1, necessitating through clinical investigation.
Subarachnoid hemorrhage can occur due to aneurismal
rupture or vascular friability in NF1 patients.