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1.
Artigo em Inglês | MEDLINE | ID: mdl-32193725

RESUMO

Herpes viruses have been described as markers of occult cancer and have also been implicated in oncogenesis. This group of viruses includes varicella-zoster virus (VZV) which is well-known for its ability to evade the immune response by lying dormant in the dorsal root ganglion of peripheral nerves. Although it is common knowledge that VZV reactivation causes herpes zoster (shingles), there have been no reports in literature of herpes zoster manifesting in the dermatomal territory of peripheral nerves involved by either benign or malignant tumors. We report two cases of patients with peripheral nerve tumors who presented with herpes zoster in the dermatomal distribution of the involved nerves. One patient had primary neurolymphomatosis, whereas the other had a sacral schwannoma. We believe these are the first cases to be reported that demonstrate herpes zoster at clinical presentation in patients with peripheral nerve tumors. This suggests that VZV may have the potential to cause peripheral nerve tumors via a complex interplay of viral oncogenes and alterations in host immunological responses.

3.
Artigo em Inglês | MEDLINE | ID: mdl-32059943

RESUMO

While surgical management of cubital tunnel syndrome (CuTS) results in the improvement of pain, paresthesia and restoration of motor function, there is a subset of patients who do not improve after primary surgery and require revision. The purpose of this study was to evaluate the incidence and risk factors for revision after primary CuTS. A retrospective review of patients who underwent revision CuTS after unsuccessful primary surgery from February 1989 to May 2009 was performed. Data regarding patients' demographics, age at primary and revision surgeries, handedness, presenting symptoms and the duration, physical examination, McGowan grading, electrodiagnostic findings and final outcomes were collected. A total of 1239 patients undergoing 1279 cubital tunnel surgeries were identified; of which 17 patients who underwent 18 revision CuTS met our inclusion criteria. Forty-one randomly selected consecutive patients who underwent primary CuTS (control cohort) were compared to identify the risk factors associated with revision CuTS. Younger age at presentation, greater static 2-point discrimination (S2PD) and a history of diabetes were associated with a greater number of revision surgeries. Patients requiring revision for primary CuTS were 8.4 years on average younger, had greater S2PD and were more likely to have diabetes. Pain as a presenting symptom compared to weakness and numbness was also a more common complaint in this cohort of patients. Future larger multicenter prospective studies are recommended.

4.
Artigo em Inglês | MEDLINE | ID: mdl-32040620

RESUMO

BACKGROUND: Usual management of peripheral nerve tumors is to avoid biopsy in those that are likely benign; the risk of biopsy outweighs the benefit of definitive tissue diagnosis. Biopsy of presumed malignant lesions is performed widely. There is a subset of peripheral nerve tumors that are not easily categorized as benign or malignant based on the clinical and/or radiological features alone. The role of biopsy in peripheral nerve tumors of uncertain character remains controversial and the risk of biopsy (and the potential risk/benefit ratio) for these lesions is not known. METHODS: Following approval by our institutional review board, we reviewed all notes of a single peripheral nerve surgeon from 2000 to 2018 with respect to image-guided percutaneous biopsy of nerve tumors. We divided these patients into 3 groups based on clinicoradiologic features. We determined the risk of complications and the "hit rate" for patients with peripheral nerve tumors of uncertain behavior, defined as the percentage of patients sent for percutaneous biopsy who had a malignancy on their final pathology. RESULTS: Of 82 patients with tumors of uncertain behavior, 9 had complications, and 23 had malignant final pathology (a "hit rate" of 27.7%). Neurosurgical referral for biopsy of tumors of uncertain behavior was made in 60 patients. Twenty-two had malignant final pathology ("hit rate"= 36.7%). Non-neurosurgical referral for biopsy was made in 22 patients with tumors of uncertain behavior. Two had malignant final pathology ("hit rate"= 4.55%). There was a statistically significant difference between the "hit rate" for the two groups (p = 0.021). CONCLUSIONS: The decision to biopsy a peripheral nerve tumor is largely based on the presumed behavior and prognosis, determined via clinicoradiologic characteristics. Patient care might be improved by delaying percutaneous biopsy of peripheral nerve lesions until after a neurosurgical evaluation.

5.
Artigo em Inglês | MEDLINE | ID: mdl-32056015

RESUMO

BACKGROUND: Individual evidence suggests that multiple modalities can be used to treat entrapment pathology by Morton's neuroma, including injection, neurolysis, and neurectomy. However, their impacts on patient pain and satisfaction have yet to be fully defined or elucidated. Correspondingly, our aim was to pool systematically identified metadata and substantiate the impact of these different modalities in treating Morton's neuroma with respect to these outcomes. METHODS: Searches of 7 electronic databases from inception to October 2019 were conducted following PRISMA guidelines. Articles were screened against pre-specified criteria. The incidences of outcomes were extracted and pooled by random-effects meta-analysis of proportions. RESULTS: A total of 35 articles satisfied all criteria, reporting a total of 2998 patients with Morton's neuroma managed by one of the three modalities. Incidence of complete pain relief after injection (43%; 95% CI, 23-64%) was significantly lower than neurolysis (68%; 95% CI, 51-84%) and neurectomy (74%; 95% CI, 66-82%) (P = 0.02). Incidence of complete satisfaction after injection (35%; 95% CI, 21-50%) was significantly lower than neurolysis (63%; 95% CI, 50-74%) and neurectomy (57%; 95% CI, 47-67%) (P < 0.01). The need to proceed to further surgery was significantly greater following injection (15%; 95% CI, 9-23%) versus neurolysis (2%; 95% CI, 0-4%) or neurectomy (5%; 95% CI, 3-7%) (P < 0.01). Incidence of procedural complications did not differ between modalities (P = 0.30). CONCLUSIONS: Although all interventions demonstrated favorable procedural complication incidences, surgical interventions by either neurolysis or neurectomy appear to trend towards greater incidences of complete pain relief and complete patient satisfaction outcomes compared to injection treatment. The optimal decision-making algorithm for treatment for Morton's neuroma should incorporate these findings to better form and meet the expectations of patients.

7.
Artigo em Inglês | MEDLINE | ID: mdl-31897730

RESUMO

INTRODUCTION: Desmoid-type fibromatosis (DTF) frequently arises in patients with neuromuscular choristoma (NMC). We hypothesize that NMC-associated DTF occurs in soft tissues innervated by the NMC-affected nerve, and arises from CTNNB1-mutated (myo) fibroblasts within or directly adjacent to the NMC. MATERIALS AND METHODS: A retrospective review of patients treated at our institution was performed for patients with biopsy-confirmed diagnosis of NMC-DTF. Clinical presentation, physical examination, electrodiagnostic findings and radiological features (MR and FDG PET/CT images for each NMC-DTF) and pathologic re-review of available materials were analyzed. A literature review was also performed. RESULTS: Eight patients from our institution met the inclusion criteria. All patients presented with neuropathic symptoms and soft tissue or bone changes in the nerve territory innervated by the NMC. All MR images (N=8 cases) showed the characteristic features of NMC, and also showed direct contact between unifocal (N=5) or multifocal (N=3) DTF(s) and the NMC-affected nerve NMC. FDG PET/CT (N=2 cases) showed diffuse, increased FDG uptake along the entire affected nerve segment, contiguous with the FDG-avid DTF. In all cases, the DTFs arose in the soft tissues of the NMC-affected nerve's territory. No patient developed DTF at any other anatomic site. CONCLUSIONS: These data demonstrate that NMC-DTF arises solely within the NMC-affected nerve territory, and has direct contact with the NMC itself. Based on all these findings and the multifocality of NMC in several cases, we recommend imaging and surveillance of the entire NMC-affected nerve (from spine to distal extremity) to identify clinically-occult DTF in patients with NMC.

8.
Acta Neuropathol ; 139(1): 157-174, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31664505

RESUMO

In Neurofibromatosis type 1, NF1 gene mutations in Schwann cells (SC) drive benign plexiform neurofibroma (PNF), and no additional SC changes explain patient-to-patient variability in tumor number. Evidence from twin studies suggests that variable expressivity might be caused by unidentified modifier genes. Whole exome sequencing of SC and fibroblast DNA from the same resected PNFs confirmed biallelic SC NF1 mutations; non-NF1 somatic SC variants were variable and present at low read number. We identified frequent germline variants as possible neurofibroma modifier genes. Genes harboring variants were validated in two additional cohorts of NF1 patients and by variant burden test. Genes including CUBN, CELSR2, COL14A1, ATR and ATM also showed decreased gene expression in some neurofibromas. ATM-relevant DNA repair defects were also present in a subset of neurofibromas with ATM variants, and in some neurofibroma SC. Heterozygous ATM G2023R or homozygous S707P variants reduced ATM protein expression in heterologous cells. In mice, genetic Atm heterozygosity promoted Schwann cell precursor self-renewal and increased tumor formation in vivo, suggesting that ATM variants contribute to neurofibroma initiation. We identify germline variants, rare in the general population, overrepresented in NF1 patients with neurofibromas. ATM and other identified genes are candidate modifiers of PNF pathogenesis.

9.
J Hand Surg Am ; 45(2): 155.e1-155.e8, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31221517

RESUMO

PURPOSE: To report the clinical outcomes and describe the surgical technique of triceps muscle reinnervation using 2 different distal nerve transfers: the flexor carpi ulnaris (FCU) fascicle of the ulnar nerve and the posterior branch of the axillary nerve (PBAN) to the triceps nerve branch. METHODS: A retrospective review of patients undergoing FCU fascicle of ulnar nerve or PBAN to triceps nerve branch transfer was performed. Outcome measures included preoperative and postoperative modified British Medical Research Council (MRC) score, EMG results, and complications. RESULTS: Between September 2003 and April 2017, 6 patients were identified. Four patients with a traumatic upper trunk and posterior cord palsy underwent ulnar nerve fascicle to triceps nerve transfer. Two patients with a recovering upper trunk following a pan-brachial plexus palsy underwent PBAN to triceps nerve branch transfer. The median age was 30.0 years (range, 18-68 years). Surgery was performed at a median of 6.9 months (range, 5.0-8.9 months) postinjury, with a median follow-up of 18.4 months (range, 7.6-176.3) months. Before surgery, 4 patients exhibited grade M0 and 2 patients exhibited grade M1 triceps strength. Four patients had M5 donor muscle strength and 2 had grade M4. Postoperatively, 4 patients regained MRC grade M4 triceps muscle strength, 1 regained M3, and 1 regained M2. There was no noticeable donor muscle weakness. CONCLUSIONS: Nerve fascicles to the FCU and PBAN are viable options for obtaining meaningful triceps muscle recovery in a select group of patients. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic V.

10.
Neurosurgery ; 86(3): 383-390, 2020 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-31215635

RESUMO

BACKGROUND: Intraneural ganglion cysts are joint-connected, with the primary pathology residing in the associated joint. For peroneal intraneural ganglion cysts, the surgical strategy can include resection of the synovial surface of the superior tibiofibular joint (STFJ). However, the rate of instability postoperatively is unclear. OBJECTIVE: To evaluate the rate of STFJ instability, following surgery for peroneal intraneural ganglion cysts. The second goal of the study was to assess the relationship between volume of resection of the STFJ and risk of extraneural recurrence. METHODS: We performed a retrospective analysis of a cohort of patients with peroneal intraneural ganglion cysts. We analyzed clinical factors, including recurrence, and assessed the rate of postoperative STFJ instability. We created 3-dimensional models of the STFJ pre- and postoperatively to compare the volume of resection in recurrent cases and nonrecurrent cases using a case-control design. RESULTS: The total cohort consisted of 65 subjects. No patient had evidence of radiological or clinical instability of the STFJ postoperatively. Extraneural radiological recurrence occurred in 6 (9%) patients. No intraneural recurrences were observed. The average volume of resection for patients with recurrence was 1349 mm3 (SD = 1027 mm3) vs 3018 mm3 (SD = 1433 mm3) in controls that did not have a recurrence (P = .018). CONCLUSION: This study supports performing an aggressive STFJ resection to minimize the risk of extraneural recurrence. Superior tibiofibular joint resection is not associated with postoperative joint instability. A smaller volume resection is correlated with recurrence risk.

11.
J Plast Reconstr Aesthet Surg ; 73(2): 209-213, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31495742

RESUMO

INTRODUCTION: Previous studies have described a segment of the axillary nerve (AN) that cannot be surgically explored through the deltopectoral and posterior surgical open approaches (blind zone). We present the first two cases using an endoscopic-assisted approach to explore the AN through a posterior approach. MATERIAL AND METHODS: Two patients were evaluated, in whom clinical, electrodiagnostic testing, and MRI could not localize the level of the AN dysfunction. An open posterior endoscopic-assisted (OPEA) approach was performed 4 and 9 months after injury in an attempt to visualize all segments of the AN. Photographs and videos were taken to evaluate the intraoperative visualization of the AN and provide long-term clinical follow-up. RESULTS: Almost the entire AN was visualized with the scope through the OPEA approach, avoiding the deltopectoral approach. No AN lesion was found during the nerve exploration. A triceps branch to AN transfer, using the previous posterior approach, was performed. Patients in both groups achieved a deltoid muscle function of BMRC grade 4 after 24 and 9 months, respectively. CONCLUSION: The exploration of the AN through the OPEA approach was a useful strategy to visualize the blind zone of the AN without requiring the addition of a deltopectoral approach. We believe this novel technique has a role in selected cases of AN injury.

12.
Clin Neurol Neurosurg ; 188: 105585, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31756619

RESUMO

OBJECTIVE: Overlapping surgery, accepted by many as two distinct operations occurring at the same time but without coincident critical portions, has been said to improve patient access to surgical care. With recent controversy, some are opposed to this practice due to concerns regarding its safety. In this manuscript, we sought to investigate the perceptions of overlapping surgery among neurosurgical leadership and the association of these perceptions with neurosurgical case volume. PATIENTS AND METHODS: We conducted a self-administered survey of neurosurgery department chair and residency program directors of institutions participating in the Vizient Clinical Database/Resource (CDB/RM), an administrative database of 117 United States (US) medical centers and their 300 affiliated hospitals. We queried participants regarding yearly departmental case-volume, frequency of overlapping surgery in daily practice and the degree of overlapping they find acceptable. RESULTS: Of the 236 surveys disseminated, a total of 70 responses were received with a response rate of 29.7.%, which is comparable to previously reported response rates among neurosurgeons and other physicians. Our respondents consisted of 43 of 165 chairs (26.1.%) and 27 of 66 program directors (40.0.%) representing 64 unique hospitals/institutions out of 216 (29.6.%). Based on the responses to question involving case volume, we divided our responders into high volume hospitals (HVH) (n = 44; > 2000 cases per year) and low volume hospitals (LVH) (N = 26). More HVH were found to have frequent occurrence of overlapping surgery (50% weekly and 20.9.% daily vs LVH's 26.9.% weekly and 3.8.% daily, p = 0.003) and considered two overlapping surgeries without overlap of critical portion as acceptable (38.6.% vs 26.9.%, p = 0.10). CONCLUSIONS: Our survey results showed that neurosurgical departments with high-volume practices were more likely to practice overlapping surgery on a regular basis and to view it as an acceptable practice. The association between overlapping surgery and the volume-outcome relationship should be further evaluated.

13.
Oper Neurosurg (Hagerstown) ; 18(1): 60-68, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-30888029

RESUMO

BACKGROUND: Intraneural dissection is a useful technique for achieving gross total resection and preserving functional fascicles for peripheral nerve tumors. Finding the correct tissue plane is the critical step for safe successful enucleation. The authors hypothesized that the yellow color of benign nerve tumors can be used to identify surgical planes. OBJECTIVE: To describe a technique to find the correct intraneural dissection plane based on a quantified yellow appearance during resection of benign peripheral nerve sheath tumors. METHODS: Intraoperative photographs were reviewed to determine the percentage of yellow that tumors appeared at different phases of surgery. A technique was developed to quantitatively measure the amount of yellow using Photoshop. Previously published journal articles containing color images of peripheral nerve tumor resections were also analyzed for yellow tumor color. RESULTS: There were 24 patients with suitable images to permit measurement of color for 3 steps of the procedure. The average percentages of yellow for tumor exposure, tumor resection, and removed specimen were 36.5%, 59.1%, and 80.4%, respectively (P < .001). Three publications were found that contained high-quality images of at least 2 phases of the surgery with average yellow content of 47.4% and 84% (P < .01). CONCLUSION: The simple observation that a benign nerve sheath tumor is yellow in color can be used to guide surgical resection and achieve excellent outcomes. Intraneural dissection through the pseudocapsule should be pursued layer by layer until a yellow true capsule is found. By sparing functional nervous tissue within the pseudocapsule, this technique may lead to improved neurological outcomes.

14.
World Neurosurg ; 135: 171-172, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31870821

RESUMO

Benign peripheral nerve sheath tumors are well known to neurosurgeons and a relatively commonly seen pathology. Intraneural ganglion cysts, once thought to be rare and poorly understood, are increasingly recognized in clinical practice and better understood based on the advent of high-resolution imaging. There are few reports of different nerve lesions in the same anatomic location appearing concurrently. Herein we present a patient with 2 distinct pathologies explaining 2 distinct symptom complexes-sensory changes in the superficial peroneal distribution (from a schwannoma of the superficial peroneal nerve) and mild motor weakness in the tibialis anterior (from an intraneural ganglion cyst arising from the superior tibiofibular joint affecting this motor branch). Recognition of the 2 pathologies allowed targeted surgical approaches, which led to resolution of the symptoms.


Assuntos
Cistos Glanglionares/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Neoplasias do Sistema Nervoso Periférico/diagnóstico por imagem , Neuropatias Fibulares/diagnóstico por imagem , Idoso , Feminino , Cistos Glanglionares/complicações , Cistos Glanglionares/cirurgia , Humanos , Imagem por Ressonância Magnética , Neurilemoma/complicações , Neurilemoma/cirurgia , Neoplasias do Sistema Nervoso Periférico/complicações , Neoplasias do Sistema Nervoso Periférico/cirurgia , Nervo Fibular/diagnóstico por imagem , Nervo Fibular/cirurgia , Neuropatias Fibulares/complicações , Neuropatias Fibulares/cirurgia
15.
World Neurosurg ; 2019 Dec 16.
Artigo em Inglês | MEDLINE | ID: mdl-31837496

RESUMO

OBJECTIVE: To investigate functional outcome from reconstructive surgery in adult traumatic brachial plexus injury (AT-BPI) with associated vascular lesions. METHODS: A retrospective review was performed of 325 patients with AT-BPI who underwent reconstructive surgery between 2001 and 2012. Patients with (vascular group) and without (control group) vascular injuries were identified by review of medical documentation. Patient presentation, characteristics of nerve and associated lesions, and surgical management were evaluated to identify prognostic variables. Postoperative muscle strength, range of motion, and patient-reported disability scores were analyzed to determine long-term outcome. RESULTS: Sixty-eight patients had a concomitant vascular injury. There were no significant differences in age or sex between the control and vascular groups. The vascular group was more likely to have pan-plexus lesions (P < 0.0001), with significantly more associated upper extremity injuries (P < 0.0001). The control group underwent more nerve transfers, whereas the vascular group underwent more nerve grafting (P = 0.003). Complete outcome data were obtained in 139 patients, which included 111 control (43% of all control subjects) and 28 vascular patients (41%). There was no significant difference in patient-reported disability scores between the 2 groups. However, 73% of control subjects had grade 3 or greater postoperative elbow flexion, whereas only 43% of vascular patients achieved this strength (P = 0.003). Control patients demonstrated a greater increase in strength of shoulder abduction as well (P = 0.004). Shoulder external rotation strength was grade 0 in most patients, with no difference between the 2 groups. CONCLUSIONS: Concomitant vascular injury leads to worse functional outcome after reconstructive surgery of traumatic brachial plexus injury.

17.
JBJS Essent Surg Tech ; 9(2): e18, 2019 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-31579536

RESUMO

Background: Interfascicular resection is a surgical technique used to safely treat benign peripheral nerve sheath tumors through careful dissection of functional neural elements off the tumor surface1,2. Description: Proper operative technique is essential to improving symptoms, preserving neurologic function, and minimizing the chance for recurrence. Accurate tumor localization, ideal patient positioning, and placement of a longitudinal incision permit adequate exposure. Prior to tumor resection, normal nerve should be identified proximally and distally and controlled with vessel loops. This allows functional fascicles streaming around the tumor in the pseudocapsule to be visualized during resection. A fascicle-free window is identified on the tumor surface through visual inspection and intraoperative neurophysiology monitoring if desired. The pseudocapsule layers are divided with a sharp instrument until a smooth and shiny true capsule layer is found. This plane should have minimal resistance and is developed circumferentially until the tumor can be enucleated in toto. At the poles of the tumor, a single nonfunctional nerve fascicle that courses into the tumor is typically found. If there is >1 fascicle running into the tumor, further pseudocapsule layers should be undermined to sweep fascicles off the true capsule surface. The entering-exiting fascicle can be tested for function and is cut sharply. The specimen should be sent to pathology for permanent sectioning. The sides of the pseudocapsule are spread in opposite directions to evaluate for residual tumor, and any remaining tumor is removed if it can be done safely. Meticulous hemostasis is achieved, and the surgical site is closed in anatomical layers. Alternatives: Pain is the most common presenting symptom, and neuroleptic medications should be used in escalating dosage prior to surgical intervention. Nonoperative medical therapy does not typically result in symptom freedom, and patients often opt for resection. For tumors that are suspected of being malignant, an image-guided percutaneous or open biopsy and staging (positron emission tomography and/or computed tomography scans of the chest, abdomen, and pelvis) are recommended prior to treatment planning. For symptomatic benign extremity lesions, surgical resection is the treatment of choice, and adjuvant therapies like radiation and/or chemotherapy are not recommended. For malignant lesions, more aggressive surgery (wide resection or amputation) and preoperative, intraoperative, or postoperative radiation with or without chemotherapy are often utilized. Rationale: The treatment approach depends on a variety of presenting features such as onset, progression, symptom severity, tumor size, location, imaging features, presence of a syndrome, and patient age. There is little benefit from the resection of an incidentally found, small, nongrowing lesion. The most common reasons for removal of extremity lesions are a painful mass and/or radiating "nerve" pain. There is a high likelihood of relieving the symptoms and minimizing the risk of recurrence, and a relatively low risk of causing neurologic injury. The procedure provides a definitive diagnosis. For patients with severe pain, progressive weakness, rapid tumor growth, or concerning imaging characteristics, biopsy should be considered to determine malignant potential.

19.
Mod Pathol ; 2019 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-31481664

RESUMO

Lipomatosis of nerve is a rare malformation characterized by a fibrolipomatous proliferation within peripheral nerve. Lipomatosis of nerve most frequently involves the median nerve, and manifests clinically as a compressive neuropathy. However, 30-60% of cases are associated with tissue overgrowth within the affected nerve's territory (e.g., macrodactyly for lipomatosis of nerve in the distal median nerve). Somatic activating PIK3CA mutations have been identified in peripheral nerve from patients with lipomatosis of nerve with type I macrodactyly, which is now classified as a PIK3CA-related overgrowth spectrum disorder. However, the PIK3CA mutation status of histologically confirmed lipomatosis of nerve, including cases involving proximal nerves, and cases without territory overgrowth, has not been determined. Fourteen histologically confirmed cases of lipomatosis of nerve involving the median (N = 6), brachial plexus (N = 1), ulnar (N = 3), plantar (N = 2), sciatic and superficial peroneal nerves (N = 1 each) were included. Ten cases had nerve territory overgrowth, ranging from macrodactyly to hemihypertrophy; and four cases had no territory overgrowth. Exome sequencing revealed "hotspot" activating PIK3CA missense mutations in 6/7 cases. Droplet digital polymerase chain reaction for the five most common PIK3CA mutations (p.H1047R, p.H1047L, p.E545K, p.E542K, and p.C420R) confirmed the exome results and identified an additional six cases with mutations (12/14 total). PIK3CA mutations were found in 8/10 cases with territory overgrowth (N = 7 p.H1047R and N = 1 p.E545K), including two proximal nerve cases with extremity overgrowth, and 4/4 cases without territory overgrowth (p.H1047R and p.H1047L, N = 2 each). The variant allele frequency of PIK3CA mutations (6-32%) did not correlate with the overgrowth phenotype. Three intraneural lipomas had no detected PIK3CA mutations. As PIK3CA mutations are frequent events in lipomatosis of nerve, irrespective of anatomic site or territory overgrowth, we propose that all phenotypic variants of this entity be classified within the PIK3CA-related overgrowth spectrum and termed "PIK3CA-related lipomatosis of nerve".

20.
Acta Neurochir (Wien) ; 161(10): 2129-2132, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31385040

RESUMO

INTRODUCTION: Intraneural ganglion cysts in the tarsal tunnel are rare but are being increasingly reported. The cysts involve the tibial or plantar nerves and are most commonly derived from a neighboring (degenerative) joint, (i.e., the tibiotalar or subtalar) via an articular branch arising from the medial aspect of the nerve. We describe a safe zone for approaching these cysts in the tarsal tunnel that allows for identification of the joint connection without injury to important distal branches. METHODS: We present a case of an intraneural ganglion cyst within the tarsal tunnel in a patient with symptoms consistent with tarsal tunnel syndrome. Using intraoperative photographs and artist rendering, we describe a technique to safely disconnect the abnormal joint connection while preserving the important distal branches of the tibial nerve. CONCLUSION: The safe zone for the tibial nerve in the tarsal tunnel can be exposed by mobilization and gentle retraction of the vascular bundle. In cases of intraneural ganglion cysts, all apparent connections between the nerve and degenerative joints within this safe zone can be resected without injury to important distal nerve branches.

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