What’s the Diagnosis – Case 93
What’s the Diagnosis – Case 93
What’s the Diagnosis – Case 93
What’s the Diagnosis – Case 93
What’s the Diagnosis – Case 93
What’s the Diagnosis – Case 93
What’s the Diagnosis – Case 93
Findings Radiographs show no acute osseous injury and in all images shown no recent injury has been sustained. On the radiographs there are multiple, markedly enlarged neural foramina which correlate to innumerable, markedly enlarged, multilobulated masses of the nerves emanating from the neural axis and in the periphery.
What’s the Diagnosis – Case 93
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What’s the Diagnosis – Case 93
What’s the Diagnosis – Case 93
What’s the Diagnosis – Case 93
What’s the Diagnosis – Case 93
What’s the Diagnosis – Case 93
Diagnosis: Neurofibromatosis type I (NF1) As stated previously, no reason was found for the patient’s new symptoms but the case presentation was to demonstrate NF 1. A dysplasia of mesodermal and neuroectodermal tissue it has a much greater tendency to involve the periphery than its counterpart, NF2. In the musculoskeletal system we may see a sharply angled curve of scoliosis; tibial bowing with pseudoarthrosis; multiple lesions of the bone related to erosion from soft tissue neurofibroma, underlying mesodermal dysplasia, or non-ossifying fibroma; dural ectasia with vertebral body scalloping; unilateral limb overgrowth; and as in this case plexiform neurofibroma. Plexiform neurofibroma are pathognomonic for NF1 but are not always present. As in this case, they are large, multilobulated masses that often arise from major or named nerves. In the subcutaneous soft tissue they present as a “bag of worms” architecture that can be appreciated particularly from the coronal images. The plexiform name takes its origin from its histopathology where there is a plexus of proliferating neural tissue. These tumors have a predisposition for malignant transformation and are difficult to treat because of their multiplicity, difficulty in obtaining complete resection, and their predisposition for recurrence.
What’s the Diagnosis – Case 93
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Resources Neurofibromatosis type 1: musculoskeletal manifestations. Dr Amir Rezaee, Dr Bruno Di Muzio et al. Radiopaedia.org Plexiform neurofibroma. Dr Bruno Di Muzio, Dr Maxime St-Amant et al. Radiopaedia.org Musculoskeletal Manifestations of Neurofibromatosis Type 1. Neel B. Patel, Gregory Scott Stacy. American Journal of Roentgenology. 2012;199: W99W106. 10.2214/AJR.11.7811
What’s the Diagnosis – Case 93
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