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Open access

Adult neuromuscular choristoma, a rare peripheral nerve pathology: illustrative case

Ashley Ricciardelli, Alex Flores, Hsiang-Chih Lu, Ekin Guney, Arie Perry, and Joey Grochmal

BACKGROUND

Neuromuscular choristomas (NMCs) are rare tumors involving aberrant intercalation of muscle fibers into peripheral nerves, most commonly the sciatic nerve. Although benign, these lesions risk developing into NMCs with desmoid-type fibrosis (NMC-DTFs), aggressive lesions potentially requiring amputation. Currently, information on NMCs and the link between NMCs and NMC-DTFs is limited in adults, with the majority of cases reported in children. We present the case of a 66-year-old male with a sciatic NMC alongside a Preferred Reporting Items for Systematic Reviews and Meta-Analyses–based systematic review of similar cases to better characterize this lesion in the adult population.

OBSERVATIONS

A male presented with 10 years of progressive left lower-extremity weakness and paresthesia, and a mildly enlarged proximal sciatic nerve was discovered on magnetic resonance imaging. He underwent left sciatic fascicular nerve biopsy, with histopathological examination identifying the lesion as an NMC. The literature review revealed that our case, alongside other cases of adults with NMCs, shared characteristics similar to NMCs in the pediatric population.

LESSONS

More comprehensive studies of adults with NMCs are needed, as the current literature contains limited information concerning disease course, diagnostic characteristics, and treatment. Furthermore, NMCs in adults should be handled with care because of the increased likelihood of transformation to NMC-DTF after surgical intervention.

Open access

Exuberant circumferential fibroproliferative neuromas in lipomatosis of nerve: a unifying theory. Illustrative case

Andres A Maldonado, Mark A Mahan, Jodi M Carter, Kimberly K Amrami, Tomas Marek, and Robert J Spinner

BACKGROUND

Lipomatosis of nerve (LN) is a rare disorder characterized by the massive enlargement of peripheral nerves, frequently accompanied by generalized fibroadipose proliferation and skeletal overgrowth.

OBSERVATIONS

The authors have been routinely following a 20-year-old male for lipomatosis of median nerve at the wrist noted shortly after birth. He had undergone resection of the lesion accompanied by sural nerve grafting at another institution. Clinically, although his neurological loss of function has been stable, he has had continued soft tissue growth. Serial magnetic resonance imaging has revealed persistent LN proximal to the repair sites with evidence of fatty proliferation in the sural grafts and continued LN and fatty proliferation distally. There has been a progressive circumferential pattern of fibrosis around the proximal and distal suture lines, which has a similar radiological pattern to desmoid type fibromatosis (a pattern recently described in neuromuscular choristoma [NMC] desmoid-type fibromatosis).

LESSONS

Considering the similar reaction of nerve in both LN and NMC despite differing genetic cascades, the authors believe a unifying process occurs in both lesions. The pattern of circumferential fibroproliferation would be most consistent with neuron-mediated growth from unspecified trophic factors, supporting a previously reported a nerve-derived “inside-out mechanism.” The clinical consequences of this unifying process are presented.

Open access

Unrecognized sciatic lipomatosis of the nerve diagnosed by telehealth: illustrative case

Tomas Marek, Noah D Spinner, and Robert J Spinner

BACKGROUND

Lipomatosis of the nerve (LN) is a rare congenital hamartoma in which abundant fibroadipose tissue is found within the epineurium of peripheral nerves. It is frequently associated with nerve territory overgrowth affecting bones or soft tissues. The clinicoradiological features are well known and pathognomonic.

OBSERVATIONS

A 38-year-old female was evaluated via telehealth for worsened sciatica after the resection of a sciatic notch lipoma, after having been evaluated over a decade for symptoms. Virtual physical examination revealed previously unrecognized subtle limb discrepancy (i.e., overgrowth). Although preoperative radiographs were unavailable during the initial evaluation, postoperative magnetic resonance imaging studies showed evidence of sciatic nerve LN. A diagnosis of LN and nerve territory overgrowth was established.

LESSONS

Despite its limitations, telehealth can be an effective alternative or adjunct to in-person evaluations in making complex diagnoses. Dedicated examination without clinical suspicion can miss subtle findings. An iterative process prompted by a focused history, knowledge of clinical associations, and pattern recognition can facilitate an accurate diagnosis without obvious face-to-face visual clues. In patients with rare disorders, asynchronous evaluation allows in-person visits to be supplemented by subsequent telehealth virtual physical exam findings. This case illustrates how examination via telehealth can be used to effectively diagnose a rare syndrome.

Open access

“Winged” Eagle’s syndrome: neurophysiological findings in a rare cause of spinal accessory nerve palsy. Illustrative cases

Eric C Mitchell, Kitty Y Wu, Fawaz Siddiqi, John Yoo, Pavlo Ohorodnyk, Douglas Ross, and Thomas A Miller

BACKGROUND

Eagle’s syndrome (ES) classically describes dysphagia, globus sensation, and otalgia from an elongated and calcified styloid process or stylohyoid ligament. Compression of the spinal accessory nerve (SAN) has not been reported as an associated feature of ES or related variants.

OBSERVATIONS

The authors describe two cases of an atypical “winged” variant with SAN palsy resulting from compression by a posteriorly angulated or calcified styloid process. Both patients exhibited lateral scapular winging and atrophy of the trapezius and sternocleidomastoid muscles. Electrophysiological studies demonstrated motor unit preservation; therefore, surgical exploration, styloidectomy, and SAN decompression were performed through a transcervical approach. Postoperatively, both patients had improvements in pain and shoulder mobility, the return of muscle strength, and electrophysiological evidence of trapezius reinnervation.

LESSONS

Compression of the SAN, which can be identified both clinically and on electrodiagnostic testing, is an atypical finding that can result from a posteriorly angulated or calcified styloid process. This winged variant of ES should be included in the differential for SAN palsy, and a multidisciplinary approach is recommended for assessment and management.

Open access

Segmental extraneural lipomatosis of the superficial peroneal nerve: illustrative case

Kitty Y Wu, Aditya Raghunathan, and Robert J Spinner

BACKGROUND

Adipose lesions of nerve are rare tumors that can cause nerve symptoms from either intrinsic or extrinsic compression.

OBSERVATIONS

The authors present a case of a patient with a 10-year history of progressive, persistent leg pain and dorsal foot paresthesias/dysesthesias. Imaging revealed several nondistinct nodules of indeterminate significance along the course of the superficial peroneal nerve (SPN). Surgery demonstrated six distinct extraneural lipomas studded on a 10-cm segment of the main SPN and one of its muscular branches in the midleg. The lesions were adherent to the SPN, without an easy dissection plane; therefore, a neurectomy was performed. Histology revealed the nerve was associated with multiple extraneural lipomas with focal evidence of prior trauma. At 4 months postoperatively, the patient’s pain had resolved completely, and she was able to resume normal physical activities.

LESSONS

The current classification of adipose lesions of nerve includes intraneural and extraneural lipomas and lipomatosis of nerve (fibrolipomatous hamartoma). The unique features of the present case include the discrete and segmental nature of the extraneural lipomas adherent to the nerve. Its etiology is unknown, and the histology would be suggestive of either a traumatic or a degenerative process.

Open access

Blood pressure cuff–induced radial nerve palsy following minimally invasive lateral microdiscectomy: illustrative case

Ziad Rifi, Jasmine A Thum, Margaret S Sten, Timothy J Florence, and Michael J Dorsi

BACKGROUND

The authors describe a rare case of transient postoperative wrist and finger drop following a prone position minimally invasive surgery (MIS) lateral microdiscectomy.

OBSERVATIONS

Hand and wrist drop is an unusual complication following spine surgery, especially in prone positioning. The authors’ multidisciplinary team assessed a patient with this complication following MIS lateral microdiscectomy. The broad differential diagnosis included radial nerve palsy, C7 radiculopathy, stroke, and spinal cord injury. Given the patient’s supinator weakness, intact pronation and wrist flexion, and transient recovery within 4 weeks, the most likely diagnosis was radial nerve neuropraxia secondary to ischemic compression. After careful consideration of the operative environment and anatomical constraints, the patient’s blood pressure cuff was found to be the most probable source of compression.

LESSONS

Blood pressure cuff–induced peripheral nerve injury may be a source of postoperative radial nerve neuropraxia in patients undergoing spine surgery. Careful considerations must be given to the blood pressure cuff location, which should not be placed at the distal end of the humerus due to higher susceptibility of peripheral nerve compression. Spine surgeons should be aware of and appropriately localize postoperative deficits along the neuroaxis, including central versus proximal or distal peripheral injuries, in order to guide appropriate postoperative management.

Open access

Selective upper trunk posterior division fascicular nerve transfer for proximal spinal accessory neuropathy: illustrative case

Kitty Y Wu and Robert J Spinner

BACKGROUND

Spinal accessory nerve palsy can lead to severe shoulder pain and weakness, lateral scapular winging, and limitations in overhead activity. It most often occurs because of iatrogenic injury from procedures within the posterior triangle of the neck.

OBSERVATIONS

The authors present the case of a 39-year-old male with symptoms of right shoulder weakness and neck pain after a total thyroidectomy and right neck dissection. With ultrasound findings of a neuroma-in-continuity but no clinical or electromyographic signs of reinnervation at 6 months, surgical intervention was indicated. Operative exploration confirmed a very proximal injury and nonconducting neuroma-in-continuity of the spinal accessory nerve. A selective distal nerve transfer from the posterior division of the upper trunk was performed. At the 2.5-year follow-up, the patient demonstrated excellent recovery of full active shoulder abduction and forward flexion, return to full-time employment, and mild residual scapular winging.

LESSONS

Distal nerve transfers should be considered in cases of late presentation when primary repair is not possible or long interpositional grafts are required. Selective fascicular transfer from the posterior division of the upper trunk provides the advantages of a single incision, short reinnervation time, and synergistic donor function to facilitate motor reeducation.

Open access

Brain metastasis and intracranial leptomeningeal metastasis from malignant peripheral nerve sheath tumors: illustrative cases

Masasuke Ohno, Shoichi Haimoto, Satoshi Tsukushi, Waki Hosoda, Fumiharu Ohka, and Ryuta Saito

BACKGROUND

Malignant peripheral nerve sheath tumors (MPNSTs) are rare soft-tissue tumors. Intracranial metastasis from MPNSTs is quite rare.

OBSERVATIONS

The authors report on a 73-year-old male whose MPNST metastasized to the brain and a 32-year-old male with leptomeningeal metastasis from MPNST and review 41 cases of MPNST that developed intracranial metastasis, as reported in the literature.

LESSONS

Brain metastasis and leptomeningeal metastasis of MPNSTs show different clinical courses and require pathology-specific treatment.

Open access

Internal iliac artery aneurysm masquerading as a sciatic nerve schwannoma: illustrative case

Lokeshwar S. Bhenderu, Khaled M. Taghlabi, Taimur Hassan, Jaime R. Guerrero, Jesus G. Cruz-Garza, Rachel L. Goldstein, Shashank Sharma, Linda V. Le, Tue A. Dinh, and Amir H. Faraji

BACKGROUND

Schwannomas are common peripheral nerve sheath tumors. Imaging techniques such as magnetic resonance imaging (MRI) and computed tomography (CT) can help to distinguish schwannomas from other types of lesions. However, there have been several reported cases describing the misdiagnosis of aneurysms as schwannomas.

OBSERVATIONS

A 70-year-old male with ongoing pain despite spinal fusion surgery underwent MRI. A lesion was noted along the left sciatic nerve, which was believed to be a sciatic nerve schwannoma. During the surgery for planned neurolysis and tumor resection, the lesion was noted to be pulsatile. Electromyography mapping and intraoperative ultrasound confirmed vascular pulsations and turbulent flow within the aneurysm, so the surgery was aborted. A formal CT angiogram revealed the lesion to be an internal iliac artery (IIA) branch aneurysm. The patient underwent coil embolization with complete obliteration of the aneurysm.

LESSONS

The authors report the first case of an IIA aneurysm misdiagnosed as a sciatic nerve schwannoma. Surgeons should be aware of this potential misdiagnosis and potentially use other imaging modalities to confirm the lesion before proceeding with surgery.

Open access

Surgical treatment of sural nerve entrapment aided by imaging- and electrography-based diagnosis: illustrative case

Maoki Matsubara, Kenji Yagi, Shoji Hemmi, and Masaaki Uno

BACKGROUND

The sural nerve (SN) is a cutaneous sensory nerve that innervates the posterolateral side of the distal third of the leg and lateral side of the foot. The SN has wide variation in its course and is fixed to the subcutaneous tissue and superficial fascia. Idiopathic spontaneous SN neuropathy is rarely surgically treated because of the difficulty in detecting SN entrapment.

OBSERVATIONS

Herein, the authors present a rare case of surgically treated spontaneous SN neuropathy. A 67-year-old male patient presented with right foot pain for several years. Magnetic resonance imaging and ultrasonography showed SN entrapment slightly proximal and posterior to the lateral malleolus. A nerve conduction study showed SN disturbance. After undergoing neurolysis, the patient’s foot pain was alleviated.

LESSONS

Idiopathic SN neuropathy can be treated surgically when SN entrapment is detected with comprehensive evaluation methods.