PURPOSE: MRI has become an essential diagnostic imaging modality for peripheral nerve pathology. Early MR imaging for peripheral nerve depended on inferred nerve involvement by visualizing downstream effects such as denervation muscular atrophy; improvements in MRI technology have made possible direct visualization of the nerves. In this paper, we share our early clinical experience with 7T for benign neurogenic tumors. MATERIALS: Patients with benign neurogenic tumors and 7T MRI examinations available were reviewed. Cases of individual benign peripheral nerve tumors were included to demonstrate 7T MRI imaging characteristics. All exams were performed on a 7T MRI MAGNETOM Terra using a 28-channel receive, single-channel transmit knee coil. RESULTS: Five cases of four pathologies were selected from 38 patients to depict characteristic imaging features in different benign nerve tumors and lesions using 7T MRI. CONCLUSION: The primary advantage of 7T over 3T is an increase in signal-to-noise ratio which allows higher in plane resolution so that the smallest neural structures can be seen and characterized. This improvement in MR imaging provides the opportunity for more accurate diagnosis and surgical planning in selected cases. As this technology continues to evolve for clinical purposes, we anticipate increasing applications and improved patient care using 7T MRI for the diagnosis of peripheral nerve masses.
- Klíčová slova
- 7T, Benign, Nerve imaging, Nerve tumor,
- MeSH
- lidé MeSH
- magnetická rezonanční tomografie metody MeSH
- nádory periferního nervového systému * diagnostické zobrazování chirurgie MeSH
- nádory * MeSH
- periferní nervy MeSH
- poměr signál - šum MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
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.
- Klíčová slova
- fibrolipomatous hamartoma, lipofibromatous hamartoma, lipomatosis of the nerve, macrodactyly, macrodystrophia lipomatosa, overgrowth,
- Publikační typ
- časopisecké články MeSH
Lipomatosis of nerve (LN) is an intriguing pathological entity defined by the abundance of fibro-adipose tissue within the epineurium, a pathognomonic magnetic resonance imaging (MRI), and frequently associated nerve-territory overgrowth. A recent systematic review showed that the majority of cases are unilateral and predominately involve the median nerve. We reviewed bilateral cases of LN to further understand this pathology. We conducted a review of the literature and our institutional databases. The cases from the literature were sorted into three groups - bilaterally confirmed LN (n = 9), unilaterally confirmed, opposite side probable LN (n = 4), and probable bilateral LN (n = 10). Review of our institutional databases identified one case: a 47-year-old man. MRI revealed LN of the brachial plexus bilaterally. To our knowledge, this is the first reported case of brachial plexus LN occurring bilaterally. More research is necessary on this topic to further understand the genetic background of this entity, particularly in relationship to the overgrowth. (Journal of Surgical Orthopaedic Advances 30(1):044-049, 2021).
BACKGROUND: Adipose lesions of nerve primarily include intra- and extraneural lipomas and lipomatosis of nerve (LN). This paper will summarize the advances that have been made in the past decade, particularly related to LN and nerve territory overgrowth that have improved our understanding of the natural history, genetic background, diagnosis, imaging features, and clinical management. METHODS AND MATERIALS: Articles about adipose lesions of nerve were reviewed from 2011, when the last comprehensive review on this topic was published. Papers reporting advances on natural history, genetic background, diagnosis, imaging features, and clinical management were screened using PubMed and Google Scholar databases and then analyzed. Case reports and small case series were included only if they reported model examples of discussed pathologies, as these types of articles were summarized in recent systematic reviews on intraneural lipomas and LN. All eligible papers were assessed by the authors, who are subject matter experts. RESULTS: The first screen revealed 404 articles. After careful evaluation, a total of 53 articles were analyzed which includes advances in diagnosis (especially imaging), classification of the lesions, the role of somatic mutations in PIK3CA in LN, and treatment approaches for all adipose lesions of the peripheral nerve. CONCLUSION: Many advances have been made in the understanding of adipose lesions of nerve in the past decade. These pathologic entities are more readily recognized as a spectrum of lesions that share common phenotypic features.
- Klíčová slova
- Adipose lesions of nerve, Extraneural lipoma, Fibrolipomatous hamartoma, Intraneural lipoma, Lipofibromatous hamartoma, Lipomatosis of nerve, Macrodystrophia lipomatosa, PIK3CA,
- MeSH
- fosfatidylinositol-3-kinasy třídy I MeSH
- hamartom patologie MeSH
- lidé MeSH
- lipom patologie MeSH
- lipomatóza genetika patologie MeSH
- nádory periferního nervového systému patologie MeSH
- nemoci periferního nervového systému genetika patologie MeSH
- tuková tkáň patologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- fosfatidylinositol-3-kinasy třídy I MeSH
- PIK3CA protein, human MeSH Prohlížeč
BACKGROUND: Lipomatosis of nerve (LN) is a complex peripheral nerve disorder characterized by fibrofatty nerve enlargement. MRI of this pathology is pathognomonic and obviates a diagnostic biopsy. Mutation in PIK3CA has been associated with LN cases with nerve-territory overgrowth which may occur in some cases. We evaluate an association of LN of the sciatic nerve and early-onset colonic diverticular disease and discuss the potential pathogenesis. METHODS: Our institutional database was searched for LN cases. Available information of identified cases was reviewed, and cases with a confirmed diagnosis of LN affecting the lumbosacral plexus and/or sciatic nerve; available MRI of the affected nerve(s); and diverticular disease occurring in the area supplied by the nerve(s) affected by LN were further analyzed. PIK3CA mutation testing was performed on available tissue samples. RESULTS: We identified 10 LN cases of lumbosacral plexus and/or sciatic nerve. Of these, three fulfilled our inclusion criteria. All three patients had concomitant colonic diverticular disease, diagnosed at a relatively young age. MRI studies of these cases showed LN involvement of the sacral nerves innervating the sigmoid colon. All three also had abnormal diagnostic workup including various GI tests and evidence of associated nerve-territory overgrowth. Colonic tissue samples for PIK3CA mutation were negative. CONCLUSION: While the pathogenesis of the colonic diverticular disease is increasingly recognized as being multifactorial, our observations are consistent with the potential role of autonomic nervous system dysfunction affecting either the pelvic floor musculature, or the colon itself (or both) in a subset of patients with early-onset diverticular disease.
- Klíčová slova
- PIK3CA, diverticular disease, fibrolipomatous hamartoma, lipomatosis of nerve, sciatic nerve,
- MeSH
- divertikulitida tlustého střeva diagnostické zobrazování etiologie MeSH
- dospělí MeSH
- fenotyp * MeSH
- lidé středního věku MeSH
- lidé MeSH
- lipomatóza komplikace diagnostické zobrazování MeSH
- nervus ischiadicus diagnostické zobrazování MeSH
- plexus lumbosacralis diagnostické zobrazování MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
BACKGROUND: Diverse adipose lesions can affect peripheral nerves, including an intrinsic disorder known as lipomatosis of nerve (LN). This condition leads to massive nerve enlargement and has often been associated with nerve territory overgrowth. Although LN has been well documented as a peripheral lesion, it is uncertain whether LN can occur or extend intradurally. METHODS: In the present 2-part study, we searched our institutional database and the world literature to identify any case of LN occurring or extending intradurally. Strict pathognomonic imaging and histopathologic features of LN were required to be present. RESULTS: We did not identify any case of LN that had occurred or extended intradurally in our institution. Specifically, in our database, we found no case of intradural LN, and an evaluation of the imaging studies of proximal examples of LN did not show any extension proximal to the spinal foramen. Our literature search identified 208 reports of potential interest, of which only 3 had reported on spinal LN. Although 2 of the 3 cases showed some similarities to LN, none had demonstrated features diagnostic for LN and none had demonstrated nerve territory overgrowth. A review of 16 cases of LN in proximal locations summarized in a recently reported systematic review did not reveal any cases with LN proximal to the foramen or in an intradural location. CONCLUSION: A review of our institutional cases and reported cases did not show any example of LN extending or occurring intradurally. It appears that LN is a benign tumor-like nerve lesion that is without a central location, unlike more well-known tumors such as schwannomas.
- Klíčová slova
- Fibrolipomatous hamartoma, Intradural, Lipomatosis of nerve, Spinal nerves,
- MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- lipomatóza diagnostické zobrazování patologie MeSH
- magnetická rezonanční tomografie MeSH
- mladý dospělý MeSH
- periferní nervy diagnostické zobrazování patologie MeSH
- retrospektivní studie MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Lipomatosis of nerve (LN) is one part of the spectrum of adipose lesions of nerve. Nerve-territory overgrowth is present in approximately 62% of cases. Given the wide variability in published reports, there is substantial need to understand the results of surgical treatment and outcomes in this disorder. METHODS: Raw data from the published systematic review of LN were used for this analysis. PubMed and Google Scholar databases were also screened for any additional papers. The cases were sorted into 2 groups: (1) definite LN cases and (2) probable LN cases (lacked definite proof of LN diagnosis). For statistical analysis, P-value <0.05 was considered statistically significant. RESULTS: The total number of 486 definite and 160 probable LN cases (646 cases combined) was included for analysis. The most commonly performed procedure was nerve decompression in both definite (n = 104; 21.4%) and combined definite and probable LN groups (n = 107; 16.6%). Improvement of symptoms was most often reported after nerve decompression (n = 52). A soft-tissue debulking procedure had the highest association with improvement (odds ratio 144.6, 95% confidence interval: 13.8-1516.2, P <0.001) in the definite LN group. CONCLUSIONS: Treatment options for LN ranges widely, although notable consistencies exist. The most conservative procedure involving nerve decompression was the most commonly performed procedure, with reported good outcomes. In contrast, worsening of symptoms was most commonly reported when nerve resection was performed. All treatment modalities were associated with improvement compared with no treatment. Diagnostic biopsy should be avoided.
- Klíčová slova
- Fibrolipomatous hamartoma, Lipofibromatous hamartoma, Lipomatosis of nerve, Macrodactyly, Overgrowth,
- MeSH
- lidé MeSH
- lipomatóza diagnostické zobrazování chirurgie MeSH
- nemoci periferního nervového systému diagnostické zobrazování chirurgie MeSH
- neurochirurgické výkony MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- systematický přehled MeSH
INTRODUCTION: Perineural spread (PNS) is an unusual mechanism of tumor extension and has been typically reported in squamous cell carcinoma, adenocystic carcinoma, and desmoplastic melanoma. Our group has previously demonstrated PNS in rectal, prostate, bladder, and cervical cancer from the primary site along the autonomic nerves to the major somatic nerves and even intradurally. We believe similar principles apply to renal cell carcinoma (RCC) as well, despite the different anatomy. CASE DESCRIPTION: We performed a retrospective search to identify cases of intradural-extramedullary metastases of RCC caused by PNS. Strict anatomic and imaging inclusion criteria were defined: only lesions located between T6 and L3 were included, and PNS as a potential cause had to be supported by imaging evidence. Although 3 cases of spinal intradural metastases were identified, only one met our strict inclusion criteria. A 61-year-old woman developed a late intradural-extramedullary metastasis of RCC 16 years after the original diagnosis that we believe represents an example of visceral organ PNS. CONCLUSIONS: RCC can propagate via PNS from the primary tumor along the autonomic nerves to the aorticorenal, celiac, and mesenteric ganglia and then along the thoracic and lumbar splanchnic nerves to the corresponding spinal nerves and intradurally. We present radiologic evidence together with the review of the literature to support the premise that PNS of RCC not only occurs but goes unrecognized.
- Klíčová slova
- Metastasis, Perineural spread, Renal cell carcinoma, Spinal,
- MeSH
- databáze bibliografické statistika a číselné údaje MeSH
- karcinom z renálních buněk komplikace patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- míšní nervy diagnostické zobrazování MeSH
- nádory ledvin komplikace patologie MeSH
- nádory míchy diagnostické zobrazování sekundární MeSH
- retrospektivní studie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- přehledy MeSH
Endometriosis of the nerve often remains an elusive diagnosis. We report the first case of intraneural lumbosacral plexus endometriosis with sequential imaging at different phases of the menstrual cycle: during the luteal phase and menstruation. Compared to the first examination, the examination performed during the patient's period revealed the lumbosacral plexus larger and hyperintense on T2-weighted imaging. The intraneural endometriosis cyst was also larger and showed recent hemorrhage. Additionally, this case represents another example of perineural spread of endometriosis from the uterus to the lumbosacral plexus along the autonomic nerves and then distally to the sciatic nerve and proximally to the spinal nerves.
- Klíčová slova
- Catamenial, Cyclic, Endometriosis, Nerve, Sciatic nerve, Sciatica,
- MeSH
- děložní krvácení etiologie patologie MeSH
- endometrióza patologie MeSH
- ischialgie diagnóza patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- luteální fáze MeSH
- magnetická rezonanční tomografie MeSH
- menstruace MeSH
- menstruační cyklus MeSH
- nervus ischiadicus patologie MeSH
- plexus lumbosacralis patologie MeSH
- recidiva MeSH
- uterus patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Endometriosis (EM) is an infrequent cause of peripheral neuropathy, most commonly sciatic. Perineural spread has recently been introduced as an alternate explanation for cases of lumbosacral or sciatic nerve EM. We performed a literature review to collect all reported cases of peripheral and central nervous system EM in search of anatomic patterns of involvement; potentially to support the perineural spread theory. If available, intraneural invasion and presence of peritoneal EM were recorded. The search revealed 83 articles describing 365 cases of somatic peripheral nervous EM and 13 cases of central nervous EM. The most frequently involved site was the sacral plexus (57%, n = 211), followed by the sciatic nerve (39%, n = 140). Other nerves were reported in significantly smaller numbers. Ninety seven percent (97%, n = 355) of peripheral nerve cases presented with pain, 20% (n = 72) reported weakness and 31% (n = 114), numbness. Thirty four percent (34%, n = 38) had solely intraneural EM of which 89% (n = 33) had no peritoneal EM (percentage based on available information). In the central nervous system, the conus medullaris and/or cauda equina constituted the majority of cases with 54% (n = 7). Apart from perineural spread, other discussed mechanisms include retrograde menstruation with peritoneal seeding, hematogenous and lymphogenous spread, stem cell implantation either hematogenously or via retrograde menstruation with subsequent EM differentiation, and coelomic or Müllerian duct metaplasia. We believe this literature review supports perineural spread as an alternate mechanism for EM of nerve, particularly the subgroup with intraneural EM and without peritoneal disease.
- Klíčová slova
- autonomic pathways, central nervous system, endometriosis, peripheral nervous system,
- MeSH
- bolest etiologie MeSH
- cauda equina patologie MeSH
- endometrióza komplikace patologie MeSH
- hypestezie etiologie MeSH
- lidé MeSH
- mícha patologie MeSH
- nemoci centrálního nervového systému patologie MeSH
- nemoci periferního nervového systému komplikace patologie MeSH
- nervus ischiadicus patologie MeSH
- plexus lumbosacralis patologie MeSH
- svalová slabost etiologie MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
