Proximal Leg Research Articles

Closure of the Osteocutaneous Fibula Flap Donor Site with a Tonearm (Propeller) Flap: Anatomic Considerations and Surgical Indications

BackgroundSkin graft is frequently used for donor site closure after osteocutaneous fibula free flap (OCFFF) harvest when primary closure is not possible. Partial skin graft loss requiring wound care is a common complication. The purposes of this prospective study were to investigate the perforator anatomy for local propeller/tonearm flap closure and compare outcomes to skin graft closure. MethodsAll patients undergoing OCFFF for head and neck reconstruction from February 2022 to October 2023 were considered for the tonearm flap. Intraoperative perforator anatomy was prospectively recorded. Surgical techniques and criteria for tonearm flap reconstruction were described. A minimum 6-month follow-up was required. Outcome measures included the rate of flap success and wound complications. Results40 consecutive patients were included. The tonearm flap was not possible in 16 patients (40%) due to unfavorable perforator anatomy and 2 patients underwent primary closure. All successful tonearm flaps were eccentrically designed on a proximal lower leg perforator, located 13.5±1.99cm from the fibular head. Most proximal perforators were musculocutaneous through the soleus muscle (n=20, 90.9%), while the rest were septocutaneous (n=2, 9.1%) originating from the peroneal artery. Three patients experienced distal partial flap loss; one required an additional skin graft. Only half of the skin graft cohort (n=99, 50.8%) achieved complete skin graft take. The average skin graft loss was 34.3% and wound care was required for an average 51.6±52.8 days. ConclusionsThe study findings demonstrate that local tonearm flaps, when anatomically feasible, can be successfully performed with superior outcomes compared to skin graft closures.

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

A newly identified subtype of hereditary axonal motor neuropathy, characterized by early proximal limb involvement, has been discovered in a cohort of 34 individuals with biallelic variants in von Willebrand factor A domain-containing 1 (VWA1). This study further delineates the disease characteristics in a cohort of 20 individuals diagnosed through genome or exome sequencing, incorporating neurophysiological, laboratory and imaging data, along with data from previously reported cases across three different studies. Newly reported clinical features include hypermobility/hyperlaxity, axial weakness, dysmorphic signs, asymmetric presentation, dystonic features and, notably, upper motor neuron signs. Foot drop, foot deformities and distal leg weakness followed by early proximal leg weakness are confirmed to be initial manifestations. Additionally, this study identified 11 novel VWA1 variants, reaffirming the 10 bp insertion-induced p.Gly25ArgfsTer74 as the most prevalent disease-causing allele, with a carrier frequency of ∼1 in 441 in the UK and Western European population. Importantly, VWA1-related pathology may mimic various neuromuscular conditions, advocating for its inclusion in diverse gene panels spanning hereditary neuropathies to muscular dystrophies. The study highlights the potential of lower quality control filters in exome analysis to enhance diagnostic yield of VWA1 disease that may account for up to 1% of unexplained hereditary neuropathies.

ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.

ITPR3 encodes type 3 inositol-tri-phosphate receptor (IP3R3), a protein expressed in Schwann cells, predominantly in the paranodal region, and involved in the regulation of Ca2+ release from the endoplasmic reticulum. Dominant variants in ITPR3 have recently been recognized as a rare cause of intermediate Charcot-Marie-Tooth disease (CMT). We collected the clinical data of a family with autosomal dominant neuropathy whose proband was diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) for many years. The genetic diagnosis was achieved by whole exome sequencing. The proband developed symmetrical sensory-motor neuropathy with demyelinating features at 32 years old. He was diagnosed with CIDP and received numerous immunomodulatory treatments. However, his condition progressed, leading to severe proximal leg and hand atrophy that confined him to a wheelchair at 60 years. The patient's two sons began to exhibit symptoms suggestive of neuropathy shortly after age 30 years, and the condition was reoriented as inherited. Exome sequencing identified a heterozygous c.4271C > T variant in the ITPR3 gene segregating with the disease. Nerve conduction studies showed a combination of demyelinating and axonal features that vary by nerve, disease duration, and patient. A uniform thickening of the nerves was identified on nerve echography, as was distal symmetric fatty infiltration in lower limb muscle imaging. The c.4271C > T ITPR3 variant causes a late onset CMT that can be considered an intermediate CMT. Considering the electrophysiological findings and the distribution of IP3R3, we hypothesize that this variant could start as nodal dysfunction that progresses to widespread nerve degeneration.

Context-dependent reduction in corticomuscular coupling for balance control in chronic stroke survivors.

Balance control is an important indicator of mobility and independence in activities of daily living. How the functional coupling between the cortex and the muscle for balance control is affected following stroke remains to be known. We investigated the changes in coupling between the cortex and leg muscles during a challenging balance task over multiple frequency bands in chronic stroke survivors. Fourteen participants with stroke and ten healthy controls performed a challenging balance task. They stood on a computerized support surface that was either fixed (low difficulty condition) or sway-referenced with varying gain (medium and high difficulty conditions). We computed corticomuscular coherence between electrodes placed over the sensorimotor area (electroencephalography) and leg muscles (electromyography) and assessed balance performance using clinical and laboratory-based tests. We found significantly lower delta frequency band coherence in stroke participants when compared with healthy controls under medium difficulty condition, but not during low and high difficulty conditions. These differences were found for most of the distal but not for proximal leg muscle groups. No differences were found at other frequency bands. Participants with stroke showed poor balance clinical scores when compared with healthy controls, but no differences were found for laboratory-based tests. The observation of effects at distal but not at proximal muscle groups suggests differences in the (re)organization of the descending connections across two muscle groups for balance control. We argue that the observed group difference in delta band coherence indicates balance context-dependent alteration in mechanisms for the detection of somatosensory modulation resulting from sway-referencing of the support surface for balance maintenance following stroke.

Versatility of Proximal Sural Island Sensate Fasciocutaneous Flap in Reconstruction of Soft Tissue Defects of Knee and Proximal Leg

Background: The proximal sural island sensate (PSIS) fasciocutaneous flap presents an ideal alternative in reconstruction of defects of the knee and proximal leg. It provides a thin sensate flap with good aesthetic outcomes and reduced donor site morbidity. However, only limited reports exist in the literature about this flap.Methods: This is a retrospective study done between December 2018 and December 2021 including 30 patients, among which seven cases had defects located on the knee and 23 cases in the proximal part of the leg. Mean age of the study population was 41 years. The maximum flap size was 8×12 cm, while the maximum pedicle length was 15 cm.Results: All 30 flaps survived well with only minimal complications occurring in a few patients such as epidermal loss and distal tip necrosis. No arterial or venous crisis occurred postoperatively in any case. Donor sites were managed with one-stage primary closure or split-thickness skin grafts. Functional deficits were not detected in any of the cases.Conclusion: We found the PSIS fasciocutaneous flap to be a simple and reliable technique to perform. The flap offers extensive coverage, reaching from the knee to the proximal leg, and provides thin, pliable, and sensate skin, resulting in excellent aesthetic and functional outcomes.

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

Dominant missense mutations of the calcium-permeable cation channel TRPV4 cause Charcot-Marie-Tooth disease (CMT) type 2C and two forms of distal spinal muscular atrophy. These conditions are collectively referred to as TRPV4-related neuromuscular disease and share features of motor greater than sensory dysfunction and frequent vocal fold weakness. Pathogenic variants lead to gain of ion channel function that can be rescued by TRPV4 antagonists in cellular and animal models. As small molecule TRPV4 antagonists have proven safe in trials for other disease indications, channel inhibition is a promising therapeutic strategy for TRPV4 patients. However, the current knowledge of the clinical features and natural history of TRPV4-related neuromuscular disease is insufficient to enable rational clinical trial design. To address these issues, we developed a TRPV4 patient database and administered a TRPV4-specific patient questionnaire. Here, we report demographic and clinical information, including CMT examination scores (CMTES), from 68 patients with known pathogenic TRPV4 variants, 40 of whom also completed the TRPV4 patient questionnaire. TRPV4 patients showed a bimodal age of onset, with the largest peak occurring in the first 2 years of life. Compared to CMT1A patients, TRPV4 patients showed distinct symptoms and signs, manifesting more ambulatory difficulties and more frequent involvement of proximal arm and leg muscles. Although patients reported fewer sensory symptoms, sensory dysfunction was often detected clinically. Many patients were affected by vocal fold weakness (55%) and shortness of breath (55%), and 11% required ventilatory support. Skeletal abnormalities were common, including scoliosis (64%), arthrogryposis (33%), and foot deformities. Strikingly, patients with infantile onset of disease showed less sensory involvement and less progression of symptoms. These results highlight distinctive clinical features in TRPV4 patients, including motor-predominant disease, proximal arm and leg weakness, severe ambulatory difficulties, vocal fold weakness, respiratory dysfunction, and skeletal involvement. In addition, patients with infantile onset of disease appeared to have a distinct phenotype with less apparent disease progression based on CMTES. These collective observations indicate that clinical trial design for TRPV4-related neuromuscular disease should include outcome measures that reliably capture non-length dependent motor dysfunction, vocal fold weakness, and respiratory disease.

Functional Outcome of Single-Bundle Arthroscopic Anterior Cruciate Ligament Reconstruction using Peroneus Longus Graft and Hamstring Graft: An Open-Label, Randomized, Comparative Study.

Background This study investigates the functional outcomes of single-bundle arthroscopic anterior cruciate ligament (ACL) reconstruction, comparing the use of two distinct graft sources: peroneus longus (PL) graft and hamstring graft. The choice of graft material in ACL reconstruction is crucial for optimal postoperative results, and this study aims to contribute valuable insights into the comparative efficacy of these two graft types. Method This open-label randomized comparative study involved a carefully selected cohort of patients undergoing single-bundle arthroscopic ACL reconstruction. Participants were randomly assigned to either the PLgraft group or the hamstring graft group. Surgical procedures were conducted using standardized techniques, and postoperative rehabilitation protocols were closely monitored. Functional outcomes, including range of motion, stability, and patient-reported measures, were assessed at predefined intervals to ensure comprehensive data collection. Results The study underscores significant demographic and clinical factors in ACL reconstruction outcomes. Participants were predominantly aged 17-30 years (58.33%) with a mean age of 29.27 years and exhibited a male predominance (80.56%). Common complaints included knee pain and instability, primarily due to falls from bikes (55.56%) or sports-related trauma (44.44%). Notably, PL grafts demonstrated advantages over hamstring grafts, with longer mean length (10.11 mm vs. 8.77 mm, p=0.0001) and shorter operation times. Visual analog scale (VAS), International Knee Documentation Committee(IKDC), and Tegner Lysholm scores show no significant differences between grafts over the period of time. There is no notable foot eversion weakness or significant donor site morbidity after the PL graft harvest.Hamstring graft cases exhibit a higher incidence of altered sensation and muscle atrophy, suggesting the potential benefits of PL grafts for improved surgical outcomes. Conclusions Graft comparisonsfavored PL grafts due to longer length, and functional outcome assessments between the two graft types. However, foot and anklestrength assessments revealed fluctuations in strength recovery with PL grafts, highlighting the need for tailored rehabilitation. Thigh circumference variations suggested potentialmuscle atrophy in the hamstring graft group, along with reported paresthesia in theipsilateral proximal leg. In conclusion, PL grafts offer potential advantages for ACL surgery, but ongoing monitoring and specialized rehabilitation are crucial.

A unique variation of the common peroneal nerve: a case report

This variation was observed in the left lower extremity of a 75-year-old male cadaver fixed with formalin, ethanol and glycerol solution. The common peroneal nerve was divided into six terminal branches. These branches were identified as deep peroneal nerve, superficial peroneal nerve, two muscular branches to the tibialis anterior and two muscular branches to the peroneus longus. Knowledge of the variations of the common peroneal nerve and its branches is important in knee and proximal leg operations.

Reliable Method for Estimating Nerve Fiber Density in Epidermis Using Routine Histopathologic Tissue Preparation: A Promising Diagnostic Tool for Small Fiber Neuropathy.

Practical yet reliable diagnostic tools for small-fiber neuropathy are needed. We aimed to establish a histopathologic protocol for estimating intraepidermal nerve fiber density (eIENFD) on formalin-fixed, paraffin-embedded tissue (FFPE), evaluate its reliability through intraobserver and interobserver analyses, and provide normative reference values for clinical use. Sixty-eight healthy participants underwent nerve conduction studies and quantitative sensory testing. Skin biopsies from the distal and proximal leg were taken and processed using routine immunohistochemistry (anti-PGP9.5 antibodies) on thin 5 µm sections. eIENFD was assessed with a modified counting protocol. Interobserver and intraobserver reliabilities were excellent (ICC=0.9). eIENFD was higher in females than males (fibers/mm, 14.3±4.4 vs. 11.6±5.8, P <0.05), decreased with age ( r s =-0.47, P <0.001), and was higher proximally than distally (15.0±5.5 vs. 13.0±5.3, P =0.002). Quantile regression equations for the fifth percentile of distal and proximal eIENFD were presented: 13.125-0.161×age (y)-0.932×sex (male=1; female=0) and 17.204-0.192×age (y)-3.313×sex (male=1; female=0), respectively. This study introduces a reliable and reproducible method for estimating epidermal nerve fiber density through immunostaining on 5-µm thin FFPE tissue samples. Normative data on eIENFD is provided. Regression equations help identify abnormal decreases in small nerve fiber density.

Pediatric Tuberculosis Osteomyelitis on Proximal Tibia: A Case Report

Background: Tuberculosis of the bone is a serious problem in developing countries, extra-pulmonary tuberculosis is more common among children. The characteristics of tuberculosis osteomyelitis in children are different. Therefore, the disease is often neglected or diagnosis is delayed. Case Report: A 18-months-old female patients presented with history of pain and mass on right leg and also unable to bear weight. On Physical examination there was palpable fluctuant mass around proximal right leg. Histology examination revealed tuberculous granuloma. Patient treated with surgical drainage and anti-tuberculous drug for 12 months resulted satisfactory outcome in 6 months treatment. Conclusion: High suspicion for tuberculosis is required in children with musculoskeletal complaints of swelling and stiffness. Tuberculosis osteomyelitis can mimic other lesion but with prompt diagnosis and treatment the outcome was satisfactory. Keywords: Tuberculosis; osteomyelitis; tibia

Studying serum neurofilament light chain levels as a potential new biomarker for small fiber neuropathy.

Diagnosing small fiber neuropathies can be challenging. To address this issue, whether serum neurofilament light chain (sNfL) could serve as a potential biomarker of damage to epidermal Aδ- and C-fibers was tested. Serum NfL levels were assessed in 30 patients diagnosed with small fiber neuropathy and were compared to a control group of 19 healthy individuals. Electrophysiological studies, quantitative sensory testing and quantification of intraepidermal nerve fiber density after skin biopsy were performed in both the proximal and distal leg. Serum NfL levels were not increased in patients with small fiber neuropathy compared to healthy controls (9.1 ± 3.9 and 9.4 ± 3.8, p = 0.83) and did not correlate with intraepidermal nerve fiber density at the lateral calf or lateral thigh or with other parameters of small fiber impairment. Serum NfL levels cannot serve as a biomarker for small fiber damage.

Association between clinical and sonographic patterns of major peripheral arterial occlusion among patients presenting with lower limb dry gangrene at a single center in Western Uganda

Abstract Background Dry gangrene occurs due to a reduced blood supply in body parts, resulting in gradual necrosis. It is among the leading indications for lower limb amputation; however, in situations where timely access of accurate diagnostic and revascularization services are limited, irrational amputations are performed based on mere physical assessment of a specific occluded major arterial segment, consequently preceded with gangrene recurrence on the same limb stump due to physical examination inaccuracies. Objectives We assessed the lower limb dry gangrene patterns and analyzed arterial Doppler reports of these cases to determine the associations between dry gangrene patterns and specific occluded major lower limb arteries to elevate the degree of accuracy of physical assessments. Methods In this cross-sectional study, 36 patients with lower limb dry gangrene were consecutively enrolled. Dry gangrene patterns and Doppler ultrasound reports of the major arteries of the affected lower limbs were assessed. Data were entered in EPIDATA and exported to STATA version 15 for cleaning and analysis. Clinical and sonographic characteristics are summarized as median and frequencies. Odds ratios (ORs) were tabulated and reported relating the dry gangrene patterns and major arterial occlusion levels as a measure of associations; P value &lt; 0.05 were considered statistically significant. Results Dry gangrenes demarcated on the toes (61.1%), toes–distal foot 27.8%, and toes–proximal foot and leg (11.1%). Doppler ultrasound revealed femoral arteries (38.9%), popliteal (66.7%), and infra-popliteal (88.9%–100%) arterial occlusions. Association between dry gangrenes demarcating toes–proximal foot and leg with femoral arterial occlusions (ORs: 6.2 and 3.2, respectively), whereas dry gangrene demarcating toes and toes–distal foot with popliteal arterial occlusions (OR, 1.6; P value, 0.05). Conclusion Dry gangrene demarcating the toes–proximal foot and leg has a significant association with femoral arterial occlusions, whereas demarcation at the toes and toes–distal foot are more associated with popliteal arterial occlusions.

Tumor-induced osteomalacia due to a phosphaturic mesenchymal maxillary tumor

ABSTRACT Tumor-induced osteomalacia is a rare paraneoplastic syndrome with hypophosphatemia due to renal phosphate wasting. The clinical presentation is bony pains and muscle wasting. A 23-year-old male presented to us in a wheelchair with joint pain and muscle weakness for 5 years. There was no history of a similar disease in the family. Treatment with non steroidal anti inflammatory drugs, steroids, and infliximab was unsuccessful. Positive examination findings revealed tenderness and swelling in both ankle and knee joints, tenderness in hip joints, proximal myopathy, and power grade 4/5 in the proximal leg muscles. On evaluation, he was found to have severe hypophosphatemia [serum phosphate 1.2 mg/dl], decreased renal phosphate absorption [tubular maximum for phosphate reabsorption adjusted for glomerular filtration rate (TMP/GFR) of 1.04], increased fibroblast growth factor 23 (FGF23), and decreased 1,25 dihydroxy vitamin D levels. Fluorodeoxyglucose-positron emission tomography (FDG PET-CT) revealed a left maxillary tumor. Histopathology revealed a mesenchymal tumor. Tumor excision resulted in cure of the patient’s symptoms and the normalization of serum phosphate levels and TMP/GFR.

Evaluation of EMG patterns in children during assisted walking in the exoskeleton.

While exoskeleton technology is becoming more and more common for gait rehabilitation in children with neurological disorders, evaluation of gait performance still faces challenges and concerns. The reasoning behind evaluating the spinal locomotor output is that, while exoskeleton's guidance forces create the desired walking kinematics, they also affect sensorimotor interactions, which may lead to an abnormal spatiotemporal integration of activity in particular spinal segments and the risk of abnormalities in gait recovery. Therefore, traditional indicators based on kinematic or kinetic characteristics for optimizing exoskeleton controllers for gait rehabilitation may be supplemented by performance measures associated with the neural control mechanisms. The purpose of this study on a sample of children was to determine the basic features of lower limb muscle activity and to implement a method for assessing the neuromechanics of spinal locomotor output during exoskeleton-assisted gait. To this end, we assessed the effects of a robotic exoskeleton (ExoAtlet Bambini) on gait performance, by recording electromyographic activity of leg muscles and analyzing the corresponding spinal motor pool output. A slower walking setting (about 0.2 m/s) was chosen on the exoskeleton. The results showed that, even with slower walking, the level of muscle activation was roughly comparable during exoskeleton-assisted gait and normal walking. This suggests that, despite full assistance for leg movements, the child's locomotor controllers can interpret step-related afferent information promoting essential activity in leg muscles. This is most likely explained by the active nature of stepping in the exoskeleton (the child was not fully relaxed, experienced full foot loading and needed to maintain the upper trunk posture). In terms of the general muscle activity patterns, we identified notable variations for the proximal leg muscles, coactivation of the lumbar and sacral motor pools, and weak propulsion from the distal extensors at push-off. These changes led to the lack of characteristic lumbosacral oscillations of the center of motoneuron activity, normally associated with the pendulum mechanism of bipedal walking. This work shows promise as a useful technique for analyzing exoskeleton performance to help children develop their natural gait pattern and to guide system optimization in the future for inclusion into clinical care.

Amyloid detection and typing yield of skin biopsy in systemic amyloidosis and polyneuropathy.

Disease-modifying therapies are available for amyloidosis but are ineffective if end-organ damage is severe. As small fiber neuropathy is an early and common feature of amyloidosis, we assessed detection and typing yield of skin biopsy for amyloid in patients with confirmed systemic amyloidosis and neuropathic symptoms. In this case-control study, patients with transthyretin and light chain amyloidosis (ATTRv, ATTRwt, and AL) were consecutively recruited. They were sex and age-matched to three control groups (1) non-neuropathic controls (NNC), (2) monoclonal gammopathy of undetermined significance (MGUS), and (3) other neuropathic disease controls (ONC). Patients underwent a double 3 mm skin biopsy in proximal and distal leg. Amyloid index and burden, protein typing by immuno-electron microscopy, intraepidermal nerve fiber density, electroneuromyography, and clinical characteristics were analyzed. We studied 15 subjects with confirmed systemic amyloidosis, 20 NNC, 18 MGUS, and 20 ONC. Amyloid was detected in 100% of patients with amyloidosis (87% in ankle and 73% in thigh). It was not detected in any of the control groups. A small fiber neuropathy was encountered in 100% of amyloidosis patients, in 80% of MGUS, and in 78% of ONC. Amyloid burden was higher in ATTRv, followed by AL and ATTRwt. The ultrastructural examination allowed the identification of the precursor protein by immunotyping in most of the cases. Skin biopsy is a minimally invasive test with optimal sensitivity for amyloid. It allows amyloid typing by electron microscope to identify the precursor protein. The diagnostic work up of systemic amyloidosis should include a skin biopsy.

Quantitative assessment of painful diabetic peripheral neuropathy after high-frequency spinal cord stimulation: a pilot study.

Randomized trials have demonstrated efficacy of spinal cord stimulation (SCS) for treatment of painful diabetic neuropathy (PDN). Preliminary data suggested that treatment of PDN with high-frequency SCS resulted in improvements on neurological examination. The purpose of the present study was to explore whether patients with PDN treated with high-frequency SCS would have improvements in lower-extremity peripheral nerve function. Prospective cohort study in an outpatient clinical practice at a tertiary care center. Patients with PDN were treated with high-frequency SCS and followed up for 12 months after SCS implantation with clinical outcomes assessments of pain intensity, neuropathic symptoms, and neurological function. Small-fiber sudomotor function was assessed with the quantitative sudomotor axon reflex test (QSART), and large-fiber function was assessed with nerve conduction studies (NCS). Lower-extremity perfusion was assessed with laser Doppler flowmetry. Nine patients completed 12-month follow-up visits and were observed to have improvements in lower-extremity pain, weakness, and positive sensory symptoms. Neuropathy impairment scores were improved, and 2 patients had recovery of sensory responses on NCS. A reduction in sweat volume on QSART was observed in the proximal leg but not at other sites. No significant differences were noted in lower-extremity perfusion or NCS as compared with baseline. The improvement in pain relief was concordant with improvement in neuropathy symptoms. The findings from this study provide encouraging preliminary data in support of the hypothesis of a positive effect of SCS on peripheral neuropathy, but the findings are based on small numbers and require further evaluation. ClinicalTrials.gov ID NCT03769675.

FRI634 Diagnostic Delay Of Diabetic Amyotrophy Is Associated With Complicated Disease Leading To Mental, Physical, And Financial Debilitation- A Case Report

Abstract Disclosure: A.J. Zaidi: None. W. Staehle: None. Introduction: Delay in diagnosis is a major problem impacting medicine, especially if pathology is not very common, like Diabetic amyotrophy. It typically presents with unilateral proximal muscle weakness and pain affecting thighs, hips and buttocks. It is relatively a rare neurological complication of Diabetes Mellitus and prediabetes, affecting approximately 1 percent of the patients. It is commonly underrecognized leading to long course to diagnosis. Case presentation: A 58 year old female presented to clinic with 5 year history of Lower back and left hip pain, slowly progressive leg weakness, with weight loss 25 pounds. Her past medical history included Type 2 diabetes mellitus with A1C 6.9, controlled by Metformin alone. She had multiple previous presentations to local primary care physicians, with unclear clinical diagnosis. She underwent several tests and imaging, was seen by neurologist, orthopedist and spine physician. Her treatments included pain regimens with N-acetylcysteine, Ibuprofen, gabapentin, tizanidine, lidocaine patch, low dose steroids, physical therapy and chiropractor visits. These provided only partial symptomatic relief. She had no other significant history, She lost her job due to being limited by her pain. Exam revealed discomfort to palpation on lower lumbar, generalized atrophy of left thigh muscles, asymmetric proximal weakness, normal sensation and reflexes. Blood work showed normal ESR, CRP, CPK, ANA, myomarker panel, Vit D levels. CSF evaluation was deferred by the patient. Imaging from previous records included Hip X-ray with mild degenerative disease, Lumbar CT with mild arthropathy on the Left L5- S1. Unremarkable lumbar and Sacral MRI. EMG revealed L4 radiculopathy with denervation of L vastus medialis and tibialis anterior, Irritation in S1 nerve root, without denervation. Based on overall investigations, and lack of evidence of alternative diagnosis, it was determined that the patient had Diabetic Amyotrophy. She refused IVIG, treated with prednisone 5mg PO oral for a month, Duloxetine and gabapentin, with significant improvement in pain and weakness. Patient was also connected with appropriate social services, physical and occupational therapy. Conclusion: Diagnostic delay of diabetic amyotrophy can lead to mental, physical, and financial debilitation. Due to low prevalence and broad differential of proximal muscle wasting, it is a challenging to diagnose and remains the diagnosis of exclusion. EMG studies with polyradiculopathy in proximal leg musculature is suggestive. Physicians should have a high clinical suspicion for diabetic amyotrophy to prevent long clinical course leading to harm to the patient. The emphasis is on creating awareness of the disease, and improving communication among clinicians and with patients, which are relatively minor investments to prevent delayed diagnosis of underrecognized complication. Presentation: Friday, June 16, 2023

Successful treatment of stiff-person syndrome with plasmapheresis: case report and literature review

Stiff-person syndrome (SPS) is a rare neurologic disease, most often caused by autoimmune process during which antibodies against glutamic acid decarboxylase (anti-GAD65) are synthesised. The main clinical symptoms, among which are axial and proximal leg muscle stiffness and painful spasms, are often provoked by external triggers. In addition to those, the disease presents with anxiety, phobias, and other psychiatric symptoms. The most notable SPS comorbidities include temporal lobe epilepsy and type 1 diabetes mellitus. In this article, we present a clinical case of a patient illustrating the course of the disease, diagnostic difficulties, and treatment options, all of which are discussed in the literature review.

Association of clinical manifestations of secondary lymphedema and lymph node dissection sites in the lower extremities of patients with melanoma

Background Lymphedema is a chronic, debilitating disease that often requires life-long management. Predicting clinical manifestations and prognosis is crucial in clinical practice because the treatment of lymphedema should be individualized for best clinical outcome. The aim of this study is to explore the location and severity of lymphedema secondary to inguinal and/or iliac lymph node dissection (LND) in patients with melanoma. Methods Patients with melanoma who received LND at a single tertiary medical center between 1 January 2010 and 31 September 2022 were retrospectively reviewed. Patient who received inguinal LND only were designate as the inguinal group while those who received both ilioinguinal LND were included in the ilioinguinal group. Volumetric measurement was used to objectify the severity and location of lymphedema. Clinical data was acquired for 12–15 months of follow-up. Results Among 81 patients, 43 (53%) had developed lymphedema in the lower extremities at an average of 33 days after the surgery. Initially, patients manifested with medial thigh lymphedema in the inguinal group while patients were presented with whole leg lymphedema in the ilioinguinal group. Lower leg volume of the ilioinguinal group was significantly higher than the inguinal group. After more than 12 months of lymphedema treatment, upper leg volume was higher in the ilioinguinal group than the inguinal group (12.7% vs 5.4%, p < 0.05). Conclusion Lymphedema developed in early post-op period. The ilioinguinal group presented with a larger volume of lymphedema in the distal area of the legs. Even after sufficient treatment, predominant lymphedema remained in the proximal leg for the ilioinguinal group. Patients with both inguinal and iliac LND were associated with more severe lymphedema. Based on the dissection sites, the clinical manifestations and prognosis of leg lymphedema can vary widely. Thus, clinicians should consider the dissection site when approaching melanoma patients with lymphedema.

The Outcome Of Pedicled Medial Sural Artery Perforating Flap For Proximal Leg Reconstruction.

Reconstruction of defects around the knee and proximal leg are difficult to reconstruct. Out of the multiple flaps described for reconstruction, the pedicled Medial Sural Artery Perforating Flap (MSAP) has recently gained popularity. We conducted this study to assess the clinical outcomes of pedicled MSAP for this purpose at our hospital. A descriptive case series was conducted from April 2022 to March 2023. All patients above 18 years with defects around the knee and proximal leg were included. Patients with tissue loss in the calf area were excluded. A total of 14 patients were included. Twelve (86%) were males, while only 2 were females (14%). The mean age was 33.5 years (±8.76). The most common cause of the defect was trauma (n=11, 85%). The Mean distance of the distal-most perforator from the popliteal crease was 12.714 (±1.990) cm (range 9-16 cm). It was observed that the most distal perforator is usually present in a 2 cm radius of the medial musculo-tendinous junction of the gastrocnemius. Complications were seen in 2 (14%) patients. The mean duration of hospital stay was 4.2 (±0.96) days. Patients were followed up weekly for the first two weeks and then at 1, 3 and 6 months. MSAP Flap is a reliable thin, long pedicled fasciocutaneous flap with low donor site morbidity and aesthetically good results for reconstruction around the knee and proximal leg.