Spinner, Robert J.

BACKGROUND Perineuriomas are peripheral nerve sheath tumors that are composed of benign, localized proliferations of perineural cells and further subclassified as intraneural or extraneural (soft tissue) based on their relationship to the histological boundaries of the nerve. Multiple histological variants have been described, and herein the authors present the first known case of a pseudolipoblastic perineurioma affecting the nerve. OBSERVATIONS A 52-year-old woman presented with a 5-year history of progressive, severe left buttock pain radiating down to the top of her foot and ankle, without any associated weakness, with a large mass in her sciatic nerve noted on magnetic resonance imaging (MRI). She underwent resection, which demonstrated a pseudolipoblastic perineurioma of the sciatic nerve, an unusual histological subtype composed of perineurial cells with an abundant clear intracytoplasmic background. Postoperatively, her pain resolved, and follow-up MRI showed no tumor persistence or recurrence. LESSONS On imaging, this lesion had a benign appearance, with areas suggestive of subacute hemorrhage, and was associated with a nerve. Although the distinctive morphological features of this lesion may suggest liposarcoma, careful morphological evaluation and appropriate immunohistochemical studies allow its correct classification.

AbstractBackground and AimsComprehensive study of sural nerve biopsy utility based on individual histopathologic preparations is lacking. We aimed to quantify the value of different histologic preparations in diagnosis.MethodsOne hundred consecutive sural nerves were studied by standard histological preparations plus graded teased nerve fibers (GTNF), immunohistochemistry, and epoxy‐semithin morphometry. Three examiners scored the individual preparations separately by a questionnaire of neuropathic and interstitial abnormalities, masked to the biopsy number, versus a gold‐standard of all preparations. Multivariate modeling was utilized to determine best approach versus the gold‐standard.ResultsHighest confidence (range 8–9 of 10) and inter‐rater reliability (99%) for fiber abnormalities came from GTNF, and interstitial abnormalities from paraffin stains (range 7–8, 99%). Vasculitic neuropathy associated with GTNF axonal degeneration (moderate to severe 79%) with OR 3.8, 95% CI (1.001–14.7), p = .04, but not significantly with the other preparations. Clinicopathologic diagnoses associated with teased fiber abnormalities in chronic inflammatory demyelinating polyradiculoneuropathy, 80% (8/10); amyloidosis, 50% (1/2); adult‐onset polyglucosan disease 100% (1/1). GTNF and paraffin stains significantly correlated with fiber density determined by morphometric analysis (GTNF: OR 9.9, p < .0001, paraffin: OR 3.8, p = .03). GTNF combined with paraffin sections had highest accuracy for clinicopathologic diagnoses and fiber density with 0.86 C‐stat prediction versus morphometric analysis. Pathological results lead to initiation or changes of immunotherapy in 70% (35/50; initiation n = 22, reduction n = 9, escalation n = 4) with the remaining having alternative intervention or no change.InterpretationNerve biopsy paraffin stains combined with GTNF have highest diagnostic utility, confidence, inter‐rater reliability, improving accuracy for a pathologic diagnosis aiding treatment recommendations. Immunostains and epoxy preparations are also demonstrated useful supporting consensus guidelines. This study provides class II evidence for individual nerve preparation utility.

BACKGROUND The articular (synovial) theory describes the formation of intraneural ganglion cysts through defects in the capsule of synovial joints. While the articular theory is gaining significant traction in the literature, it is not universally accepted. Therefore, the authors present a case of a plainly visible peroneal intraneural cyst, although the subtle joint connection was not identified specifically at the time of surgery, with subsequent rapid extraneural cyst recurrence. The joint connection was not immediately evident on review of the magnetic resonance imaging, even to the authors who have a large experience with this clinical entity. The authors report this case to demonstrate that all intraneural ganglion cysts have joint connections, although they may be difficult to identify. OBSERVATIONS An occult joint connection in the intraneural ganglion poses a unique diagnostic and management dilemma. High-resolution imaging is a valuable tool used to identify the articular branch joint connection as part of the surgical planning. LESSONS Based on the articular theory, all intraneural ganglion cysts will have a joint connection through an articular branch, although this may be small or nearly invisible. Failure to appreciate this connection can lead to cyst recurrence. A high index of suspicion of the articular branch is needed for surgical planning.

BACKGROUND Neuromuscular choristoma (NMC) is a rare congenital lesion in which muscle tissue is admixed with nerve fascicles within a peripheral nerve. Patients commonly present in early childhood with neuropathy, plexopathy, or chronic undergrowth in the distribution of the affected nerve. OBSERVATIONS The authors present the case of a 35-year-old man with unrecognized neuromuscular NMC of the sciatic nerve, which resulted in recurrent, multicentric NMC-associated desmoid-type fibromatosis (NMC-DTF) within the nerve territory in association with a Marjolin ulcer, a cutaneous malignancy. LESSONS Based on anatomical and pathophysiological findings described in this case report, the authors support the association between NMC-DTF and Marjolin ulcer.

BACKGROUND Macrodystrophia lipomatosa (MDL) is characterized by progressive overgrowth affecting soft tissues and bony structures and is part of lipomatous overgrowth syndromes. MDL has been associated with lipomatosis of the nerve (LN), an adipose lesion of nerve that has a pathognomonic magnetic resonance imaging (MRI) appearance as well as a mutation in the PIK3CA gene. The authors present a case of occult LN in the setting of MDL. OBSERVATIONS A 2-year-old boy with progressive soft tissue overgrowth of his proximal right lower extremity was initially diagnosed with neurofibromatosis type 1 (NF1). At our institution, NF1 as well as other overgrowth syndromes including PTEN hamartoma tumor syndrome were excluded. He was diagnosed as having so-called MDL. Upon reinterpretation of the patient’s MRI studies, short-segment LN involving the proximal sciatic nerve and part of lumbosacral plexus was identified. He underwent 2 debulking/liposuction procedures for soft tissue overgrowth. Genetic testing of tissue revealed a mutation in PIK3CA . LESSONS Thorough clinical examination (for signs of overgrowth) as well as an MRI study of the entire neural pathway is a critical part of the diagnostic workup to evaluate for LN. The authors believe that an increasing association of LN, even when occult, will emerge that will explain many cases with marked nerve-territory overgrowth.

BACKGROUND Delayed facial palsy (DFP) after vestibular schwannoma resection is a well-documented, yet poorly understood condition. The exact pathophysiological mechanisms of DFP are unknown, although diminished intraoperative nerve response has been shown to be a prognostic factor. To date, no such condition has been described in regard to peripheral nerve schwannomas. OBSERVATIONS Here the authors present the first reported cases of delayed motor weakness (DMW) after peripheral schwannoma resection of the ulnar nerve at the elbow and peroneal nerve in the popliteal fossa. Both patients presented with a mass lesion and radiating paresthesias and had normal motor function preoperatively. Immediately after surgical resection, the patients had full strength. Within 24 hours, both patients exhibited marked weakness that gradually resolved over the course of several weeks. LESSONS DMW after peripheral schwannoma resection is a rare condition likely akin to delayed facial nerve palsy after VS resection. The mechanism of this phenomenon remains unknown, although symptoms appear to self-resolve with time. A better understanding of the processes driving this condition may allow for therapies that can expedite and improve long-term outcomes.

Cervical dystonia (spasmodic torticollis) is a condition that involves sustained, involuntary contraction of neck and shoulder muscles, leading to abnormal movements and head posture. The authors present the case of a 41-year-old man with severe right rotational torticollis for 1.5 years due to predominant right cervical paraspinal and left sternocleidomastoid muscle hyperactivity. Following failed medical management, the patient elected to undergo surgical treatment for his torticollis. In their video, the authors discuss the steps of selective denervation using a modified Bertrand procedure, highlighting the associated anatomy and surgical planes. At the 1.5-year follow-up, the patient had no pain and his head position remained straight. The video can be found here: https://stream.cadmore.media/r10.3171/2022.9.FOCVID2291

BACKGROUND Schwannomas of the peripheral nerves are benign tumors that can very rarely undergo malignant transformation. These lesions are particularly challenging to diagnose via noninvasive techniques but can have significant implications for treatment. OBSERVATIONS This is a case of a 70-year-old female with a prior history of a right sciatic notch tumor that was diagnosed as a conventional schwannoma via histology from an initial biopsy and subsequent surgical debulking. Unfortunately, she experienced significant worsening of her motor deficit, whereby her postoperative foot weakness progressed to complete foot drop in less than 2 years. In addition, she demonstrated significant radiological progression, with more than 1 to 2 cm of growth in each dimension at her subsequent evaluation, along with intractable right leg pain. An additional operation was performed to completely remove the 7 × 8 cm tumor, and histology demonstrated angiosarcoma within a schwannoma. There was no evidence of recurrence at 15 months, and the patient had significant improvement in her pain. LESSONS Rapidly worsening function and radiological progression are not typically seen with conventional benign nerve sheath tumors and should prompt consideration of other lesions. Angiosarcoma within schwannoma is a rare pathology and optimal therapies for these tumors in terms of surgical timing and adjuvant therapy are still unknown.

Purpose of the Review: Traumatic brachial plexus injuries (BPI) are devastating life-altering events, with pervasive detrimental effects on a patient's physical, psychosocial, mental, and financial well-being. This review provides an understanding of the clinical evaluation, surgical indications, and available reconstructive options to allow for the best possible functional outcomes for patients with BPI. Recent Findings: The successful management of patients with BPI requires a multidisciplinary team approach including peripheral nerve surgeons, neurology, hand therapy, physical therapy, pain management, social work, and mental health. The initial diagnosis includes a detailed history, comprehensive physical examination, and critical review of imaging and electrodiagnostic studies. Surgical reconstruction depends on the timing of presentation and specific injury pattern. A full spectrum of techniques including neurolysis, nerve grafting, nerve transfers, free functional muscle transfers, tendon transfers, and joint arthrodesis are utilized. Summary: Despite the devastating nature of BPI injuries, comprehensive care within a multidisciplinary team, open and practical discussions with patients about realistic expectations, and thoughtful reconstructive planning can provide patients with meaningful recovery.