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

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

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).

• MeSH
• lidé středního věku MeSH
• lidé MeSH
• lipomatóza * diagnostické zobrazování   MeSH
• magnetická rezonanční tomografie MeSH
• nervus medianus MeSH
• periferní nervy MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy 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

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: Fibrolipomatous hamartoma of the nerve is a rare benign infiltrating condition of peripheral nerves with prominent cutaneous findings that has not being well described in the dermatologic and dermatopathologic literature. OBJECTIVE: We sought to evaluate the clinical and histopathological features of this rare condition. METHODS: We reviewed the clinicopathologic features of 13 cases to delineate their clinical presentation and histopathologic spectrum. RESULTS: All patients presented with unilateral lesions on the thenar areas, fingers, or both. In 7 cases the lesions presented congenitally and in 6 cases the lesions presented sporadically. Histologically, we found 2 patterns that have only been rarely mentioned before including cases with intraneural perineurioma-like features and cases with marked nerve hyperplasia. LIMITATIONS: Only 13 cases were included in our study. CONCLUSIONS: This condition is an uncommon entity. The diagnosis of this disorder can be highly suspected on its macroscopic features. Predilection of the median nerve and the frequent association with macrodactyly are characteristic clinical findings.

• Klíčová slova
• Proteus syndrome, fibrolipomatous hamartoma of the nerve, macrodactyly, median nerve, syndactylia,
• MeSH
• dítě MeSH
• dospělí MeSH
• hamartom komplikace   diagnóza   patologie   MeSH
• hodnocení rizik MeSH
• imunohistochemie MeSH
• jehlová biopsie MeSH
• lidé středního věku MeSH
• lidé MeSH
• lipom komplikace   diagnóza   patologie   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• nádory periferního nervového systému komplikace   diagnóza   patologie   MeSH
• prognóza MeSH
• prsty ruky abnormality   patologie   MeSH
• vrozené deformity končetin etiologie   patologie   MeSH
• vzácné nemoci MeSH
• vzorkové studie MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• dítě MeSH
• hamartom chirurgie   MeSH
• lidé MeSH
• lipom chirurgie   MeSH
• nádory periferního nervového systému chirurgie   MeSH
• nervus medianus * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

OBJECT Nerve biopsy is typically performed in distal, noncritical sensory nerves without using imaging to target the more involved regions. The yield of these procedures rarely achieves more than 50%. In selected cases where preoperative evaluation points toward a more localized (usually a more proximal) process, targeted biopsy would likely capture the disease. Synthesis of data obtained from clinical examination, electrophysiological testing, and MRI allows biopsy of a portion of the major mixed nerves safely and efficiently. Herein, experiences with the sciatic nerve are reported and a description of the operative technique is provided. METHODS All cases of sciatic nerve biopsy performed between 2000 and 2014 were reviewed. Only cases of fascicular nerve biopsy approached from the buttock or the posterior aspect of the thigh were included. Demographic data, clinical presentation, and the presence of percussion tenderness for each patient were recorded. Reviewed studies included electrodiagnostic tests and imaging. Previous nerve and muscle biopsies were noted. All details of the procedure, final pathology, and its treatment implications were recorded. The complication rate was carefully assessed for temporary as well as permanent complications. RESULTS One hundred twelve cases (63 men and 49 women) of sciatic nerve biopsy were performed. Mean patient age was 46.4 years. Seventy-seven (68.8%) patients presented with single lower-extremity symptoms, 16 (14.3%) with bilateral lower-extremity symptoms, and 19 (17%) with generalized symptoms. No patient had normal findings on physical examination. All patients underwent electrodiagnostic studies, the findings of which were abnormal in 110 (98.2%) patients. MRI was available for all patients and was read as pathological in 111 (99.1%). The overall diagnostic yield of biopsy was 84.8% (n = 95). The pathological diagnoses included inflammatory demyelination, perineurioma, nonspecific inflammatory changes, neurolymphomatosis, amyloidosis, prostate cancer, injury neuroma, neuromuscular choristoma, sarcoidosis, vasculitis, hemangiomatosis, arteriovenous malformation, fibrolipomatous hamartoma (lipomatosis of nerve), and cervical adenocarcinoma. The series included 11 (9.9%) temporary and 5 (4.5%) permanent complications: 3 patients (2.7%) reported permanent numbness in the peroneal division distribution, and 2 patients (1.8%) were diagnosed with neuromuscular choristoma that developed desmoid tumor at the biopsy site 3 and 8 years later. CONCLUSIONS Targeted fascicular biopsy of the sciatic nerve is a safe and efficient diagnostic procedure, and in highly selected cases can be offered as the initial procedure over distal cutaneous nerve biopsy. Diagnoses were very diverse and included entities considered very rare. Even for the more prevalent diagnoses, the biopsy technique allowed a more targeted approach with a higher diagnostic yield and justification for more aggressive treatment. In this series, new radiological patterns of some entities were identified, which could be biopsied less frequently.

• Klíčová slova
• CIDP = chronic inflammatory demyelinating polyneuropathy, SPGR = spoiled gradient echo recalled, fascicular biopsy, sciatic nerve, surgery, targeted biopsy, technique,
• MeSH
• biopsie metody   MeSH
• dítě MeSH
• dospělí MeSH
• elektrodiagnostika MeSH
• lidé středního věku MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• mladiství MeSH
• mladý dospělý MeSH
• nemoci periferního nervového systému diagnóza   patofyziologie   chirurgie   MeSH
• nervus ischiadicus patologie   patofyziologie   MeSH
• neurochirurgické výkony metody   MeSH
• předškolní dítě MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• lipom chirurgie   MeSH
• mikrochirurgie metody   MeSH
• nádory kraniálních nervů chirurgie   MeSH
• nemoci vestibulokochleárního nervu chirurgie   MeSH
• nervus vestibulocochlearis * MeSH
• senioři MeSH
• vestibulární schwannom chirurgie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH