Introduction: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by pigmented lesions (café-au-lait macules, skinfold freckling, and Lisch nodules), and dermal neurofibromas. In some subjects, NF-1 presents with complications such as brain tumors, skeletal abnormalities, peripheral nerve tumors, and behavioral abnormalities. Patient concerns: We report the case of a 30-year-old man who presented with sudden bilateral lower limb paralysis and acute-onset lower back pain following a fall while rising from a seated position. He denied a history of back pain or muscle weakness before the index event. On examination, the patella and Achilles tendon reflexes were absent bilaterally. The patient presented with a power grade of 0 in all lower limb muscle groups and normal muscle bulk. Diagnosis: Bilateral lower limb paralysis was associated with sensory loss in the T11 dermatome. X-ray, computed tomography, and magnetic resonance imaging (MRI) showed vertebral canal enlargement (dural ectasia) at multiple levels suggestive of a lateral meningocele associated with neurofibromatosis. After repeated MRI studies, herniation of nerve root sleeves was noted, with marked compression of the traversing nerve roots. Notably, there was no evidence of cord compression on either the computed tomography or MRI. The cerebrospinal fluid studies were unremarkable. Interventions: No particular intervention was performed to address specific NF symptoms. In the hospital, the patient received analgesics and antibiotics (gentamicin and cefuroxime) for a urinary tract infection, lactulose for constipation and enoxaparin as anticoagulant prophylaxis. Outcomes: The patient experienced a clinical decline unrelated to his initial symptoms and succumbed to sepsis 6 weeks after admission. The cause of death was not directly linked with NF-1. Conclusion: We report a case of NF-1 with dural ectasia presenting with sudden bilateral lower limb paralysis and lower back pain following mild trauma. Although 70% of dural ectasia cases are associated with NF-1, there are few reports of NF-1 patients with dural ectasia and associated orthopedic complications. Here, we note that dystrophic changes in NF-1 may lead to rapidly aggravating neurological symptoms even after trivial trauma.
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