Marek, Tomáš

BACKGROUND Intraneural perineuriomas (INPs) are rare benign peripheral nerve sheath tumors with characteristic clinical and MRI features. Their 18 F-fluorodeoxyglucose (FDG) positron emission tomography (PET) appearance has not been characterized in a patient series. The authors evaluated FDG uptake patterns in INP. OBSERVATIONS The authors retrospectively reviewed that data of patients with confirmed INP who had MRI and FDG PET studies that included the affected nerve. Eight patients were included (5 male and 3 female; mean age 30.8 years, range 16–61 years). All lesions showed mildly increased FDG uptake relative to the contralateral nerve (lesion maximum standardized uptake value [SUVmax]: mean 1.5, median 1.2, range 1.1–3.5; contralateral nerve SUVmax: mean 0.9, median 0.9, range 0.8–1.0) and skeletal muscle background (SUVmean: mean 0.8, range 0.5–0.9). Six patients had denervation edema and/or fatty atrophy, without appreciably increased FDG uptake in the affected musculature. No additional abnormal hypermetabolic foci were identified. LESSONS INPs generally demonstrate low-level FDG uptake. PET is best regarded as a complementary test when already available or when metabolic characterization may refine the differential diagnosis; unexpectedly high uptake should prompt reconsideration of the diagnosis or additional evaluation. https://thejns.org/doi/10.3171/CASE26698

BACKGROUND Cystic adventitial disease (CAD) and intraneural ganglion cysts (IGCs) are rare mucinous lesions typically linked to an articular origin via macroscopic conduits. While secondary propagation between vascular and neural systems may occur through shared fascial sheaths, a direct microvascular route has not been previously described. OBSERVATIONS A 60-year-old man presented with progressive left tibial neuropathy. High-resolution 7T MRI and surgery revealed a large popliteal CAD lesion connecting to the knee joint via the middle genicular artery, alongside a secondary tibial IGC lacking an independent articular nerve connection. Findings demonstrated that high-pressure CAD mucin tracked along a small connecting vascular branch, creating a novel microvascular arterio-neural pathway to infiltrate the tibial nerve. Targeted articular branch disconnection and cyst decompression yielded significant clinical improvement, with no recurrence on 7-month follow-up 7T MRI. LESSONS This case expands the unifying articular theory, demonstrating that synovial fluid propagation can exploit a microvascular arterio-neural pathway rather than strictly macroscopic fascial planes. High-resolution 7T MRI is essential for visualizing these subtle connections. Successful management requires meticulous identification and disconnection of the primary joint connection to prevent recurrence. https://thejns.org/doi/10.3171/CASE26411

OBJECTIVE Neuromuscular choristoma (NMC) is a rare developmental lesion that may give rise to desmoid-type fibromatosis (DTF) within the same nerve territory (NMC-DTF). While MRI features of NMC are well established, the natural history of progression to NMC-DTF has not been systematically described. This study aimed to define radiological groups from NMC to NMC-DTF using serial MRI and a literature review. METHODS Following IRB approval, the authors retrospectively analyzed 28 patients with NMC from their institutional database. Diagnosis was based on pathology or classic clinicoradiological features. Sequential MR images were reviewed to evaluate nerve enlargement, enhancement patterns, low T1/T2 foci, and NMC-DTF formation. Cases were classified into 3 radiological groups: 1) classic NMC with typical MRI features (group I), 2) NMC plus, with atypical features (foci of low T1/T2 signal intensity and/or at least moderate postcontrast enhancement; group II), and 3) NMC-DTF with a mass outside of the epineurium (group III). Data were correlated with pathology results and prior reports from the literature. RESULTS Of the 28 patients, 24 underwent serial MRI. Eleven patients presented with group I features, 4 with group II, and 9 with group III. Among group I patients with follow-up imaging, 4 (36.4%) progressed to group III over a mean of 6.2 years and 1 (9.1%) to group II. All 4 group II patients (100%) developed NMC-DTF within a mean of 3.0 years. All group III patients demonstrated NMC-DTF extending beyond the epineurium. No prior cases in the literature documented radiological progression from NMC to NMC-DTF on serial MR images. CONCLUSIONS The authors propose a framework for NMC progression based on radiological features, identifying group II as being high risk and a potential transitional phase for the formation of DTF. Structured surveillance with serial MRI is essential to prevent iatrogenic triggers and improve management strategies in patients with NMC.

ABSTRACT The paraneurium is a distinct connective tissue sheath that loosely envelopes the epineurium. The space between the para‐ and epineurium (the subparaneurial compartment) holds significant clinical relevance, serving as a target for deposition of regional anesthesia and a potential pathway for the pathological spread of cysts and tumors. However, visualization of the paraneurial layer, as a separate structure from the epineurium, remains challenging with conventional MRI, especially in the absence of pathology. This study evaluated the visualization of the paraneurium using ultra‐high‐field 7‐Tesla (7 T) MRI compared to conventional field strengths. We assessed normal nerve anatomy and a spectrum of pathological cases, including intraneural ganglion cysts, schwannomas, intraneural perineuriomas, and metastatic melanoma. The results demonstrated that 7 T MRI provides superior resolution and delineation of the paraneurium compared to 1.5 and 3 T systems. In normal anatomy, T1‐weighted and proton density (PD) sequences provided optimal contrast between the paraneurium and surrounding adipose tissue. In contrast, for pathological cases, T2‐weighted sequences with fat suppression were superior for depicting the paraneurium and identifying subparaneurial involvement. In conclusion, 7 T MRI offers a significant advantage in identifying the thin paraneurial layer. This capability provides valuable insights into the pathogenesis of tumor spread and holds promise for improving pre‐operative planning and clinical decision‐making in peripheral nerve pathology.

BACKGROUND Lipomatosis of the nerve (LN) is a rare peripheral nerve pathology characterized by abundant proliferation of fat within the epineurium giving it pathognomonic features on MRI. Any nerve may be affected, but major nerves such as the median and sciatic nerves are most reported. One of the clinical hallmarks of LN is associated bony and soft tissue overgrowth occurring distal to the nerve lesion. While macrodactyly and limb length overgrowth are well known in LN, this study aims to look at nerve territory bony overgrowth affecting the knee. OBSERVATIONS An initial search revealed 59 cases of LN in the Mayo Clinic system. Of 19 patients with LN of the lower limbs, 12 cases involved nerves in the pelvis, buttock, or thigh. Three cases fulfilled the criteria (LN of lower extremity with available MR images and knee radiographs) that affected the femoral, sciatic, and combined femoral/sciatic nerves. Knee radiographs revealed bony overgrowth in the respective nerve territories in each case: anterior, posterior, and both anterior and posterior portions of the knee. LESSONS These illustrative cases of LN with overgrowth of the knee demonstrate that bone overgrowth follows the territory of the associated nerve in LN, which supports the previously published evidence on LN-associated nerve territory overgrowth. https://thejns.org/doi/10.3171/CASE25132

ABSTRACTPrimary lymphedema (i.e., a chronic condition characterized by the accumulation of protein‐rich fluid in the interstitial spaces due to impaired lymphatic drainage) and lipomatosis of nerve (LN) (i.e., a congenital lesion characterized by the presence of fat interspersed within nerve) can involve a significant overgrowth of the affected limb, but their pathophysiology and treatment are totally different. This report addresses the misdiagnosis of both entities. The purpose is to highlight how both entities can be differentiated through two case reports. The first patient, a 69‐year‐old man, presented in our lymphedema clinic with multiple debulking operations; he was diagnosed with right upper extremity lymphedema during childhood. The thumb, index, and middle fingers had previously been amputated due to sequelae from the bony overgrowth. MRI of the right upper extremity showed pathognomonic features of LN affecting the median nerve associated with soft tissue fatty overgrowth. He had a 3 months follow‐up for this condition in our institution during which his symptoms remained stable. The second patient, an 81‐year‐old man, presented in our lymphedema clinic. He carried a long time diagnosis of primary left lower extremity lymphedema and had been followed at our institution for more than 25 years. Physical examination revealed overgrowth (increased volume) affecting the entire leg and foot. MRI showed pathognomonic features of LN of the left sciatic nerve. No surgical interventions were performed. At the last follow‐up, his extremity showed slightly worsened diameter measurements. Based on our 2 cases presented and 2 additional cases identified in the literature, we believe that primary lymphedema and LN are two different entities that could be confused. Plastic surgeons treating patients with lymphedema should be aware of LN and rule out this condition clinically and with imaging (US or MRI).

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.

AbstractBackgroundFood intake is regulated by homeostatic and hedonic systems that interact in a complex neuro‐hormonal network. Dysregulation in energy intake can lead to obesity (OB) or anorexia nervosa (AN). However, little is known about the neurohormonal response patterns to food intake in normal weight (NW), OB, and AN.Material & MethodsDuring an ad libitum nutrient drink (Ensure®) test (NDT), participants underwent three pseudo‐continuous arterial spin labeling (pCASL) MRI scans. The first scan was performed before starting the NDT after a > 12 h overnight fast (Hunger), the second after reaching maximal fullness (Satiation), and the third 30‐min after satiation (postprandial fullness). We measured blood levels of ghrelin, cholecystokinin (CCK), glucagon‐like peptide (GLP‐1), and peptide YY (PYY) with every pCASL‐MRI scan. Semiquantitative cerebral blood flow (CBF) maps in mL/100 gr brain/min were calculated and normalized (nCBF) with the CBF in the frontoparietal white matter. The hypothalamus (HT), nucleus accumbens [NAc] and dorsal striatum [DS] were selected as regions of interest (ROIs).ResultsA total of 53 participants, 7 with AN, 17 with NW (body‐mass index [BMI] 18.5–24.9 kg/m2), and 29 with OB (BMI ≥30 kg/m2) completed the study. The NW group had a progressive decrease in all five ROIs during the three stages of food intake (hunger, satiation, and post‐prandial fullness). In contrast, participants with OB showed a minimal change from hunger to postprandial fullness in all five ROIs. The AN group had a sustained nCBF in the HT and DS, from hunger to satiation, with a subsequent decrease in nCBF from satiation to postprandial fullness. All three groups had similar hormonal response patterns with a decrease in ghrelin, an increase in GLP‐1 and PYY, and no change in CCK.ConclusionConditions of regulated (NW) and dysregulated (OB and AN) energy intake are associated with distinctive neurohormonal activity patterns in response to hunger, satiation, and postprandial fullness.

OBJECTIVE Neuromuscular choristoma (NMC) is a rare developmental malformation of peripheral nerve that is frequently associated with the development of a desmoid-type fibromatosis (DTF). Both NMC and NMC-DTF typically contain pathogenic CTNNB1 mutations and NMC-DTF develop only within the NMC-affected nerve territory. The authors aimed to determine if there is a nerve-driven mechanism involved in the formation of NMC-DTF from the underlying NMC-affected nerve. METHODS Retrospective review was performed for patients evaluated in the authors’ institution with a diagnosis of NMC-DTF in the sciatic nerve (or lumbosacral plexus). MRI and FDG PET/CT studies were reviewed to determine the specific relationship and configuration of NMC and DTF lesions along the sciatic nerve. RESULTS Ten patients were identified with sciatic nerve NMC and NMC-DTF involving the lumbosacral plexus, sciatic nerve, or sciatic nerve branches. All primary NMC-DTF lesions were located in the sciatic nerve territory. Eight cases of NMC-DTF demonstrated circumferential encasement of the sciatic nerve, and one abutted the sciatic nerve. One patient had a primary DTF remote from the sciatic nerve, but subsequently developed multifocal DTF within the NMC nerve territory, including 2 satellite DTFs that circumferentially encased the parent nerve. Five patients had a total of 8 satellite DTFs, 4 of which abutted the parent nerve and 3 that circumferentially involved the parent nerve. CONCLUSIONS Based on clinical and radiological data, a novel mechanism of NMC-DTF development from soft tissues innervated by NMC-affected nerve segments is proposed, reflecting their shared molecular genetic alteration. The authors believe the DTF develops outward from the NMC in a radial fashion or it arises in the NMC and wraps around it as it grows. In either scenario, NMC-DTF develops directly from the nerve, likely arising from (myo)fibroblasts within the stromal microenvironment of the NMC and grows outward into the surrounding soft tissues. Clinical implications for patient diagnosis and treatment are presented based on the proposed pathogenetic mechanism.