Severe Leg Pain Research Articles

Exercise-Associated Hyponatremic Encephalopathy, Rhabdomyolysis, and Acute Kidney Injury While Hiking in the Grand Canyon.

We present an unusual case of concomitant exercise-associated hyponatremic encephalopathy (EAHE), exertional rhabdomyolysis (ER), and acute kidney injury (AKI) in a Grand Canyon hiker. Our case patient, an adult 41-year-old male, consumed an excessive amount of water during his descent into the Canyon during hot weather. The next day, he was unable to hike out due to severe leg pain and disorientation, and ultimately evacuated by helicopter, having a grand mal seizure in flight. Despite having no serum sodium level, medics administered an intravenous (IV) bolus of 3% hypertonic saline (HTS) before transporting him to the hospital. There, he was diagnosed with EAHE (serum sodium, 114 mmol⋅L-1), ER, bilateral compartment syndromes, and mild AKI. The life-threatening EAHE was immediately corrected with more IV HTS, the limb-threatening compartment syndromes by surgical fasciotomies, and eventually, the AKI by oral and IV fluids. This case demonstrates the seriousness of overconsumption of water, as well as the potential complications of muscle damage when a deconditioned person does prolonged, strenuous exercise. Furthermore, it also illustrates the importance of considering EAHE within the differential diagnosis for acute alterations in level of consciousness. Lastly, it shows the importance to prioritize patient treatments for conditions that are an immediate threat to life or limb.

Complex trauma sequelae: Mycobacterium goodii and Priestia endophytica Hardware infection in a patient with Ehlers-Danlos syndrome

A 26-year-old man with Ehlers-Danlos syndrome, recurrent otitis externa, and chronic otitis media sustained a left lower extremity amputation and open femur fracture with internal hardware fixation after a motor vehicle collision in Arizona. He presented to the emergency department at our institution with severe left leg pain and purulent discharge despite receiving two unidentified antibiotics upon discharge. Evaluations revealed an abscess and malunion of the femur. Initial cultures yielded scant Priestia endophytica, leading to daptomycin treatment. His condition worsened until Gram-positive bacilli identified as Mycobacterium goodii, a rare nosocomial mycobacterial species, were found. Significant improvement occurred with appropriate antibiotics. This case highlights the challenges in diagnosing and managing M. goodii infections in immunocompromised patients with orthopedic complications and notes P. endophytica as a previously unreported, possibly opportunistic human pathogen.

Low-energy differential target multiplexed SCS derivative reduces pain and improves quality of life through 12 months in patients with chronic back and/or leg pain.

Energy-reducing spinal cord stimulation (SCS) approaches have the potential to impact patient experience with rechargeable and non-rechargeable SCS devices through reducing device recharge time or enhancing device longevity. This prospective, multi-center study evaluated the safety, effectiveness, and actual energy usage of differential target multiplexed (DTM) endurance therapy, a reduced energy DTM SCS derivative. Subjects who reported an overall pain visual analog score (VAS) of ≥6/10 cm and an Oswestry Disability Index score of 21-80 out of 100 at baseline with moderate to severe chronic, intractable back and/or leg pain were eligible. Evaluation visits occurred at 1, 3, 6, and 12 months post-device activation. The primary objective was to characterize change in overall pain intensity, as measured by VAS, from baseline to 3-month visit. Fifty-seven subjects enrolled at 12 US sites from November 2020 through June 2021, 35 were implanted with a rechargeable SCS device, and 27 completed the 12-month visit. Subjects experienced a 50.4% mean reduction in overall pain from baseline at the 3-month follow-up that was sustained through 12 months. Additional outcomes including changes in overall, back, and leg pain intensity, quality of life, disability, therapy satisfaction, safety, and current battery usage are shown through 12-month follow-up. The use of DTM endurance SCS therapy in this study resulted in reductions in pain relief through 12 months, demonstrating that energy-reducing stimulation patterns can provide clinical benefit. Clinically effective, reduced energy SCS derivatives have the potential to impact patient experience through either reduced recharge requirements or increased device longevity.

Index-level fusion and adjacent segment disease following dynamic stabilization for lumbar degenerative disc disease: illustrative case.

Dynesys dynamic stabilization (DDS) is an alternative to surgical fusion for the operative management of degenerative lumbar spondylosis. Compared to rigid instrumentation and fusion, DDS is purported to preserve a higher degree of spinal range of motion and reduce the risk of developing adjacent segment disease (ASD). A 60-year-old female presented with severe back pain and bilateral leg pain, which had progressed over the prior 4 years. Nine years earlier, she had undergone DDS system implantation at L5-S1 for lumbar stenosis and spondylosis. Repeat imaging revealed an unintended fusion at the index level (L5-S1) and ASD causing severe lateral recess stenosis at L4-5. She underwent DDS system removal, decompression at L4-5, and extension of the fusion to L4. Although DDS has been marketed as a motion-preserving system that avoids fusion and reduces the risk of ASD, unintended index-level fusion and ASD can still occur after DDS system surgery. These potential complications should be assessed when determining the optimal primary surgical treatment for patients with lumbar degenerative disc disease. https://thejns.org/doi/10.3171/CASE24179.

Evaluating the Impact of Smoking and Hyperlipidemia in Patients with Atherosclerotic Cardiovascular Disease

Hyperlipidemia and Smoking are risk factors of atherosclerotic cardiovascular disease in Pakistani community. Objectives: To determine whether smoking and hyperlipidemia were associated with atherosclerotic cardiovascular disease. Methods: A comparative, cross-sectional study was conducted upon a sample of 200 male and female participants with different cardiac complications were selected and divided them into different groups like Group A and Group B. The individuals with medical complications such as severe chest pain, unexpected numbness or weakness in arms or legs and loss of vision were placed in Group A. While in Group-B 70 male and 30 female individuals with mild chest pain were include. BMI, Cholesterol, Triglyceride, LDL and HDL levels and other demographics such as age, smoking habits were measured respectively. Results: In Group A (severe disease group) there were 75 males and 25 females while in Group B (mild disease group) 70 male and 30 female individuals were listed. The mean age in Group A (59.09 ± 0.01) and Group B (59.09 ± 0.01). The results showed significant difference in Group A and B mean cholesterol (279.9 ± 0.04 vs. 239.09 ± 0.04), Triglycerides (187.02 ± 0.01 vs. 127.02 ± 0.01), LDL (153.01 ± 0.02 vs. 123.01 ± 0.02), HDL (49.04 ± 0.01 vs. 40.01 ± 0.01) and (p value<0.05). Conclusions: It was concluded that hyperlipidemia and smoking were significant (p≤0.05) risk factors for atherosclerotic cardiovascular disease, as seen by increasing levels of cholesterol, Triglycerides and LDL in cardiovascular patients.

Competence or Experience

Competence or Experience

CVID With Unusual Peripheral Mononeuropathy and Associated IL-7 Receptor Mutation.

Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. It is characterized by hypogammaglobulinemia and can present with a broad range of symptoms including recurrent bacterial infections, autoimmunity, and malignancy. Rarely, it has been implicated with peripheral neuropathy. We present a case of CVID with peripheral neuropathy and a pathogenic heterozygous variant of IL-7 receptor gene. The patient is a 38-year-old female with a history of recurrent infections since childhood including pneumonia and sinus infections status post tonsillectomy and sinus surgery. She subsequently developed severe left leg and lower back pain that progressed to left foot drop and decreased sensation over the left leg. She was found to have severe hypogammaglobulinemia and poor polysaccharide and protein response, thus meeting criteria for CVID. Mononeuropathy is a rare finding in CVID. Genetic panel was performed and was significant for a single pathogenic variant in IL-7 receptor. Disruptions in the IL-7 and IL-7 receptor signaling pathway have been associated with autoimmunity such as rheumatoid arthritis and multiple sclerosis. Further investigation is indicated to determine the clinical significance of this variant.

Characterization of the calcineurin inhibitor pain syndrome in patients undergoing allogeneic hematopoietic cell transplantation

Calcineurin inhibitor pain syndrome (CIPS) is a rare complication of graft-vs-host disease prophylaxis following allogeneic hematopoietic cell transplant (alloHCT). CIPS presents as severe bilateral lower extremity pain, and the incidence, risk factors, and management of CIPS are poorly characterized. This is a single center retrospective study of patients who received tacrolimus (TAC) following alloHCT to describe the characteristics and management of CIPS and compare to a cohort who did not develop CIPS. Fifteen of 585 alloHCT patients (2.6%) developed CIPS at a median of 5 days following TAC initiation and a median level of 10.5 ng/mL. Severe bilateral foot, ankle, or leg pain were the primary symptoms. Patients with CIPS were younger and more frequently received myeloablative conditioning and total body irradiation compared to patients without CIPS. Analgesic regimens included dihydropyridine calcium channel blockers, gabapentinoids, topical diclofenac, and opioids. Clinicians should be aware of this uncommon but severe adverse effect.

Abstract 17742: Anterior Papillary Muscle Rupture After a Motor Vehicle Collision: A Rare Case of Torrential Tricuspid Regurgitation After Blunt Cardiac Injury

Introduction: Blunt cardiac injury is difficult to diagnose in the setting of polytrauma. Here we present a rare case of a torrential tricuspid regurgitation from a ruptured anterior papillary muscle after a motor vehicle collision (MVC). Case: A 55-year-old male presented to the ED after an MVC. He was hemodynamically unstable and hypoxic en route complaining of severe chest and left leg pain. Imaging demonstrated multiple rib fractures, a left acetabular fracture, and left open distal femur fracture. EKG identified atrial fibrillation with RVR and nonspecific ST changes. Labs were significant for leukocytosis and a troponin elevation to 11.98 concerning for blunt cardiac injury. A TTE demonstrated a mobile density in the RA and RV consistent with papillary muscle rupture and severe tricuspid regurgitation. An underfilled left ventricle compressed by the right heart and dilated RV were noted with septal flattening consistent with RV pressure and volume overload. Cardiothoracic surgery was consulted and recommended delayed tricuspid valve repair after other acute injuries were addressed considering the need for full anticoagulation. While in the ICU, his orthopedic injuries were addressed though his hemodynamics were complicated by frequent orthopedic interventions requiring blood transfusions. He later underwent TV replacement and it was found that the anterior papillary muscle was ruptured at its base without leaflet perforation. One week post-operatively the patient suffered a hypoxic PEA arrest. The shock team was consulted and he underwent bedside ECMO cannulation with impella placement for LV failure. After ten days on ECMO he was decannulated. Ultimately, the patient recovered well and was discharged to acute rehab. Discussion: MVCs are a leading cause of traumatic tricuspid insufficiency. However, this life-threatening condition may go undetected due polytrauma and the presence of coexisting distracting injuries. Guidelines are needed for the specific management of traumatic tricuspid regurgitation and associated right heart dysfunction. Additionally, the need for multiple surgical interventions can preclude anticoagulation which is a unique barrier to urgent valve replacement in these patients.

A RARE CAUSE OF RADICULOPATHY: FEMORAL HEAD AVASCULAR NECROSIS

Insufficient blood flow to the proximal femur causes osteonecrosis of the femoral head, which is known as femoral head avascular necrosis (AVN). The underlying pathogenesis is unclear, risk factors are likely to influence microcirculation somewhat, but this has not been confirmed by research. In more than 75% of cases, avascular necrosis affects the femoral head. Methods: From August 2019 to March 2022, 4 patients with FBAN were analyzed retrospectively. The findings seen in the hip MRI radiographs of the patients were reported radiologically as FBAN. It was staged with the Ficat and Arlet classifications. Visual analog scale (VAS) was used in the current clinics of the patients. Results: Patients with severe back, hip, and leg pain whose clinic and radiology do not match with lumbar pathology should plan a hip MRI. Because of this, it may be misleading for people with severe radiculopathy, and this radiculopathy may not even be real. The pain is really coming from the hip, but it is often felt in the lumbosacral region and the buttocks. This makes it easy to make the wrong diagnosis.

Introducing Australia's clinical care standard for low back pain.

Introducing Australia's clinical care standard for low back pain.

A rare post-COVID neurological complication: Case report of peripheral axonal sensory neuropathy

The present outbreak of Severe Acute Respiratory Syndrome CoronaVirus-2 (SARS-CoV-2), a “novel coronavirus” with neurotropic potential, has presented with multiple cases of neurological manifestations also. SARS-CoV-2 infection is found to be associated with an increased incidence of diverse neurological manifestations such as hyposmia/anosmia, encephalopathy and encephalomyelitis, ischemic stroke and intracerebral hemorrhage, and neuromuscular diseases involving both central and peripheral nervous system. People with these severe complications were most likely elderly with medical comorbidities, especially hypertension and other vascular risk factors. However, in our case a 35-year-old young healthy man developed severe post-COVID neuropathy debilitating his daily activity further requiring rehospitalization. Our patient had developed severe SARS-CoV-2 pneumonia, with a computed tomography severity score of 18/25, needing non-invasive ventilation support, and intensive care unit care for a week, thereafter recovering well without complications and being discharged on room air. He had to be readmitted after 3 days in view of severe bilateral leg pain, being described as “pain crisis.” He was evaluated, a neurologist was involved in the case, with nerve conduction veloci (NCV) lower limbs revealing an axonal sensory neuropathy, which was treated with corticosteroid pulse therapy, gabapentin, and vitamin supplementation to which the patient responded well. Our case presented with pure sensory neuropathy post-COVID which is a rare presentation. The previous reports of treatment of SARS-CoV-2-associated neuropathy have also included corticosteroids and IVIG usually. Our patient improved with pulse therapy of corticosteroid and gabapentin. Thus, awareness and early treatment of peripheral neuropathy after SARS-CoV-2 is needed for good clinical outcomes.

Acquired hemophilia A following COVID-19 vaccine: a case report

BackgroundIn the literature, reported cases of Acquired hemophilia A (AHA) induced by COVID-19 vaccination occurred after Adenoviral Vector Deoxyribonucleic Acid (DNA)- and SARS-CoV-2 Messenger Ribonucleic acid (mRNA)-Based vaccines. Here, and to the best of our knowledge, we report the first case of AHA occurring after an inactivated Sinovac-coronavac COVID-19 vaccine.Case presentationA 69-year-old Tunisian male patient consulted for severe left leg pain limiting physical mobility due to a 5*6 cm large ecchymosis located at the left inner thigh, having spontaneously appeared 5 days prior consultation and without notion of trauma. The patient had no known personal medical history. He had received the second dose of CoronaVac-SinoVac vaccine 30 days prior to consultation. Further physical examination revealed the presence of two other ecchymoses: one at the inner face of the right forearm, starting at the wrist reaching the elbow and the other at the left flank of the abdomen. Diagnosis of AHA was based on clinical presentation and confirmed with prolonged a PTT, Factor VIII deficiency and the presence of an FVIII inhibitor. The patient was successfully treated with corticosteroids and low dose Rituximab.ConclusionClinicians should consider AHA in front of prolonged aPTT with or without spontaneous bleedings even after inactivated virus COVID-19.

Paresthesia Is Predictive of Symptom Recurrence After Fasciotomy for Exertional Compartment Syndrome of the Leg.

Exertional compartment syndrome (ECS) is an underdiagnosed cause of lower extremity pain among athletes. The condition can be managed operatively by fasciotomy to relieve excess compartment pressure. However, symptom recurrence rates after fasciotomy are considerable, ranging from 3% to 17%. Leg paresthesia and its distribution during ECS episodes would be a significant predictor of outcomes after fasciotomy. Retrospective cohort study. Level 4. We conducted a retrospective chart review of patients who underwent fasciotomy for ECS at our center from 2010 to 2020 (institutional review board no. 21-00107). We measured postoperative outcomes including pain frequency and severity, Tegner activity level, and return to sport. Significant predictors of outcomes were identified using multivariable linear and logistic regression. P values <0.05 were considered significant. A total of 78 legs (from 42 male and 36 female participants) were included in the study with average follow-up of 52 months (range, 3-126 months); 33 participants (42.3%) presented with paresthesia. Paresthesia was an independent predictor of worse outcomes, including more severe pain at rest (P = 0.05) and with daily activity (P = 0.04), reduced postoperative improvement in Tegner scores (P = 0.04), and lower odds of return to sport (P = 0.05). Those with paresthesia symptoms in the tibial nerve distribution had worse outcomes than those without paresthesia in terms of preoperative-to-present improvement in pain frequency (P < 0.01), pain severity at rest (P < 0.01) and with daily activity (P = 0.04), and return to sport (P = 0.04). ECS patients who present with paresthesia have worse pain and activity outcomes after first-time fasciotomy, but prognosis is worst among those with tibial nerve paresthesia. Paresthesia among ECS patients is broadly predictive of more severe recurrent leg pain, reduced activity level, and decreased odds of return to sport after fasciotomy.

Palliative Radiotherapy Induced Severe Tumor Lysis Syndrome in a Patient With Multiple Myeloma With Skin Involvement: A Case Report and Review of Literature.

Radiotherapy (RT) has been rarely reported as a cause of tumor lysis syndrome (TLS). Therefore, the patient characteristics and details of RT-induced TLS remain unclear, which may delay diagnosis. Herein, we report a case of palliative RT-induced severe TLS in a patient with multiple myeloma (MM) with skin involvement along with literature review. A 75-year-old female with MM was referred to our department in February 2021 because of swelling and pruritus of the bulky tumor on her right breast and severe left leg pain. She had received chemotherapies and autologous peripheral blood stem cell transplantations since October 2012. We administered palliative RT (a single 8 Gy fraction) to the right breast, left tibia, and femur. On day 7 after RT, a shrinkage effect was observed on the right breast lesion, and left leg pain was relieved. Her laboratory results showed hyperuricemia, hyperphosphatemia, and hypercreatininemia. Initially, we considered acute renal failure (ARF) due to MM progression and planned for a follow-up after 1 week. On day 14 after RT completion, she experienced vomiting and anorexia. Her laboratory results became worse. She was admitted with the diagnosis of TLS and received intravenous fluid hydration and allopurinol. Unfortunately, the evolution was marked by severe clinical deterioration with anuria and coma, leading to death on day 35 after RT. It is important to determine whether ARF is due to MM progression or TLS. The occurrence of TLS should be considered in the case of a rapidly shrinking bulky tumor while receiving palliative RT.

A New Interlaminar/Interspinous and Facet-Joint Stabilization System in Lumbar Degenerative Disk Disease: 2Years of Results.

In lumbar degenerative disk diseases (DDDs), we include a wide range of lumbar pathologies. Lumbar spinal stenosis with or without spondylolisthesis is a common cause of lower-limb pain in elderly patients. The surgical treatment of lumbar DDD consists of the decompression of the neural structures or the decompression and fusion of the involved motion segment. Unfortunately, rigid spinal implants followed by fusion cause increased stresses on the neighboring spinal segments, often leading to adjacent segment degeneration. The aim of this paper is to present a new system for interlaminar/interspinous and facet-joint stabilization and fusion. From March 2018 to June 2021, 175 patients with severe lumbar back and/or leg pain were operated on with this device after the failure of conservative treatment for a minimum of 6months. For this study, we considered 75 available patients with a minimum follow-up time of 24months. Patients rated their back pain and leg pain on a visual analog scale (VAS) after surgery and at the last follow-up; also, the postoperative consumption of analgesic drugs was investigated. Finally, patients were asked whether they would undergo this kind of surgery again or recommend it. The device is designed to promote a better and more efficient intervertebral fusion: Bone Ingrowth technology allows the system to achieve the best response from the bone tissue. All procedures were performed without any complications. A reoperation was required in five cases (6.7%) because of implant failure. In one case, a spinous process and unilateral articular process fracture occurred. In four cases, a subcutaneous ISCHIA (one case) or FILICUDI (three cases) pullout was observed. Significant improvements following lumbar surgery were observed when evaluating the postoperative VAS values, analgesic drug consumption levels, and patients' satisfaction ratings. Evident fusion was seen in 58 of 75 patients (77.3%). Our interspinous/interlaminar and facet-joint implant solution, associated with bone grafting, provided vertebral fusion in most stenotic patients with Grade I DS undergoing bilateral microdecompression (BMD) or bilateral decompression via the unilateral approach (BDUA). A higher number of patients and a longer follow-up will certainly be required to completely validate these new devices, but this minimally invasive surgery (MIS) is currently very encouraging and satisfactory.

Women with lipoedema: a national survey on their health, health-related quality of life, and sense of coherence

BackgroundLipoedema is a chronic disease in adipose tissue that almost exclusively affects women during periods of hormonal alterations. Its main symptoms include an abnormal accumulation of subcutaneous fat in the buttock, hips, and legs, which is associated with pain, swelling, and easy bruising. Herein, a grading in three stages is used to determine disease progression. Problematically, lipoedema manifestations are often confused with lifestyle-induced obesity, which is why the various health problems among affected women often remain unrecognized. Overall, research on lipoedema is scarce. As such, this study examined the health, health-related quality of life (HRQOL), and sense of coherence (SOC) among women with lipoedema.MethodsWe conducted a national cross-sectional study using an online survey assessing sociodemographic data, lipoedema characteristics, symptom severity, comorbidities, HRQOL (RAND-36), and SOC (SOC-13). In total, 245 women with lipoedema, recruited from all Lipoedema Association groups in Sweden, participated. Data were compiled with descriptive statistics, and mean differences between groups were analysed by using parametric and non-parametric tests.ResultsModerate and severe leg heaviness, pain, numbness, cold skin, feeling cold, easy bruising, and sleep problems were found to occur in all lipoedema stages. Moreover, almost all participants reported having comorbidities. Worse physical health and most substantial limitations in daily life were reported among women with the most progressive lipoedema (i.e., stage 3). Social and emotional functioning and SOC were found to be, on the other hand, primarily related to respondents’ sociodemographic data and their ages at lipoedema onset. Even though approximately 70% of the women had experienced lipoedema onset before age 30, only three (1.6%) had been diagnosed by a healthcare professional before that age.ConclusionHaving lipoedema is associated with several health problems and a lower HRQOL. In addition, the extent of delay in diagnosis within this sample indicates that many women with lipoedema are often underdiagnosed and are left without support from healthcare. These findings call for the need for greater attention on lipoedema. Moreover, further studies on how women with lipoedema manage their health and symptoms, as well as on their experiences of healthcare services and lipoedema treatments, are needed.

Seizures, deep vein thrombosis, and pulmonary emboli in a severe case of May–Thurner syndrome: a case report

BackgroundMay–Thurner syndrome is a vascular disorder caused by the right common iliac artery compressing the left common iliac vein against the lumbar spine, causing distal venous stasis and potentially leading to fibrous change in the venous wall structure. Although May–Thurner syndrome is most commonly discovered in females upon investigation of new-onset deep vein thrombosis, we present the case of an otherwise healthy 29-year-old male with severe May–Thurner syndrome who presented with seizures, bilateral deep vein thrombosis, and diffuse pulmonary emboli. Seizures constituted the earliest presenting symptoms for the patient. Although it is difficult to prove that the patient’s seizures were related to the May–Thurner syndrome, this possible association renders this case extraordinary.Case presentationThis report describes the case of a 29-year-old previously healthy white male with a severe case of left-sided May–Thurner syndrome that required extensive medical and interventional treatment. The patient experienced two seizures, one month apart, both of which occurred while residing at high altitude. The patient had no prior history of seizures, and epilepsy was ruled out. Three weeks after the second seizure, he presented to the emergency room with hemoptysis, dyspnea, and severe leg pain. Sites of thrombus were confirmed in both legs and diffusely in the lungs. Etiological work-up after treatment with intravenous tissue plasminogen activator revealed May–Thurner syndrome. Hematology workup including genetic testing showed no evidence of coagulopathy. Bilateral common iliac venous stents were placed to attempt definitive treatment. Despite stenting, the patient had another thrombotic event with associated sequelae after discontinuation of anticoagulation. The patient has not had another seizure since the stents were placed. Despite the negative testing, the patient remains on lifelong chemoprophylaxis in the event of an undiscovered hypercoagulopathy.ConclusionsThe care team theorizes that the seizures resulted from hypoxia due to May–Thurner syndrome-induced hemostasis and associated thrombotic events, the high-altitude location of his residence at the time he experienced the seizures, and shallow breathing during sleep. For patients with lower limb venous thrombosis, May–Thurner syndrome should be considered in the differential diagnosis. Endovascular treatment followed by extended prophylactic anticoagulation therapy until the patient is determined to be no longer at risk for thrombosis is recommended. Post-venoplasty thrombosis is a common complication of endovascular treatment of May–Thurner syndrome and should be carefully monitored.

COMMON VARIABLE IMMUNODEFICIENCY WITH UNUSUAL PERIPHERAL NEUROPATHY AND ASSOCIATED IL-7 RECEPTOR MUTATION

<h3>Introduction</h3> Common variable immunodeficiency is the most common symptomatic primary immunodeficiency, characterized by hypogammaglobulinemia and presenting with a broad range of symptoms including recurrent bacterial infections, autoimmunity, and neoplastic conditions. We present a case of common variable immunodeficiency associated with peripheral neuropathy and a pathogenic heterozygous variant of interleukin-7 receptor (IL7R) gene. <h3>Case Description</h3> The patient is a thirty-eight-year-old female with a history of recurrent infections since childhood including pneumonia and sinus infections status post-tonsillectomy and sinus surgery. She subsequently developed severe left leg and lower back pain which progressed to left foot drop and decreased sensation over the leg with accompanied paresthesia. Labs showed profound hypogammaglobulinemia with scarce levels of IgG (55mg/dl) and IgM (21mg/dl) and lack of IgA (2mg/dl) and IgE (<0.3 IU/ml). Further workup included normal lymphocyte proliferation with deficient polysaccharide and protein response. The patient's lack of IgG antibody production is an important criterion for the diagnosis of common variable immunodeficiency. Genetic panel was performed and significant for a single pathogenic variant in IL7R. <h3>Discussion</h3> We present a case of recurrent sinopulmonary infections with associated peripheral neuropathy prompting further evaluation, revealing the diagnosis of common variable immunodeficiency. Mononeuropathy is a rare finding in common variable immunodeficiency, although should elicit further evaluation if the etiology is unclear. Additional workup was significant for a single pathogenic variant in IL7R. This gene is associated with autosomal recessive severe combined immunodeficiency when homozygous. Further genetic testing is indicated to determine the clinical significance of this variant.

ISPAD Clinical Practice Consensus Guidelines 2022: Diabetes in adolescence.

ISPAD Clinical Practice Consensus Guidelines 2022: Diabetes in adolescence.