Intermittent Swelling Research Articles

8800 A Case of Hypopituitarism Due to Sheehan Syndrome

Abstract Disclosure: N. Akabogu: None. S. Dejhansathit: None. F. Marium: None. B. Stanley: None. E.M. Bazuaye: None. L.S. Krusniak: None. L.G. Kurukulasuriya: None. U.Z. Khan: None. Background: Sheehan syndrome, which is also known as postpartum pituitary infarction, refers to the necrosis of the anterior pituitary gland due to postpartum hypovolemia, hemorrhage, shock, resulting in various degrees of hypopituitarism. The pituitary gland enlarges during pregnancy due to estrogen stimulation and becomes hyper-vascular, making it prone to infarction with postpartum hemorrhage. The initial symptoms include hyponatremia, weakness, weight loss, but the most prominent specific symptoms are inability to nurse and postpartum amenorrhea. Depending on the severity of hypopituitarism, symptoms may develop within the first few days to weeks after delivery or may take months to years to develop. Case presentation: 35year-old Caucasian female with a medical history of gestational diabetes, hyperlipidemia, and hypertension, who presented to the hospital with flu-like symptoms, leg pain, abdominal pain, and proximal muscle weakness. The evaluating hospitalist observed that patient appeared sluggish and spoke with a deep coarse voice, which concerned him for hypothyroidism. Thyroid function test revealed undetectable free T4 with inappropriately normal TSH of 1.38 – consistent with secondary hypothyroidism. Additional history from patient uncovered 9 months history of constant fatigue, weight gain, dry skin, hair loss, cold intolerance, and intermittent ankle swelling. There is no history of brain irradiation or head trauma. She has 4 biological children, and her last childbirth 3years ago was complicated by severe bleeding from her incision site, requiring transfusion of 6 units of blood. She has been amenorrheic since and is neither on birth control nor had hysterectomy. Physical exam showed mildly enlarged tongue, diffuse pallor, dry scaly skin on upper arms, scanty eyebrows, and slowed speech. Further work-up for pituitary insufficiency showed secondary adrenal insufficiency, secondary hypogonadism, low prolactin, and growth hormone deficiency. There was no evidence of AVP deficiency. Other lab and clinical findings were hypoglycemia, hyperlipidemia, elevated CK, elevated Cr, pericardial effusion, and diastolic hypertension. Pituitary MRI showed markedly attenuated and flattened pituitary gland with no focal mass. Patient was given stress dose hydrocortisone and thyroid hormone replacement, initially IV then oral. Following hydrocortisone and thyroid hormone replacement, her diastolic BP, hypoglycemia, CK, and Cr improved. Further management plans include initiating estrogen (plus progesterone) for bone health. Conclusion: Although Sheehan syndrome is rare in developed countries, it does occur. This case emphasizes the importance of detailed history taking, to discover the root of patients’ presentation. Even though TSH is the screening test for thyroid disease, when pituitary etiology is suspected, it is important to also check a free T4. Presentation: 6/1/2024

Suona Player with Intermittent Cheek Swelling and Pain.

Suona Player with Intermittent Cheek Swelling and Pain.

Two pediatric hereditary angioedemathe families: case report and literature review

Objective: To summarize the clinical characteristics of two families with hereditary angioedema in children. Methods: A retrospective analysis was conducted on the general information, clinical manifestations, genetic variations, and laboratory test results of two families diagnosed with hereditary angioedema at Department of Rheumatology and Immunology, Shenzhen Children's Hospital from December 2022 to May 2023. And using keywords such as "children" "adolescent" "infant" "toddler" "pediatric" "hereditary angioedema" search for relevant literature from VIP, Wanfang, CNKI, PubMed, Web of Science and Google Scholar from the establishment of the database until January 2024 and summarize the diagnosis and clinical characteristics of hereditary angioed in children. Results: Case 1, female, 12 years old, presented with intermittent abdominal pain for 8 years, aggravated with vomiting for 2 days. Eight years ago, without a clear cause, case 1 experienced abdominal pain and underwent two abdominal surgeries. The concentration of C1 esterase inhibitor was 0.46 g/L, and the function of C1 esterase inhibitor was less than 0.01. The SERPING1 gene had a c.1396C>G variation, and she was diagnosed with hereditary angioedema type Ⅱ. Among the other 13 family members, 8 had swelling in different parts, and 2 had died. Case 2, female, 17 years old, was diagnosed with hereditary angioedema type Ⅰ due to intermittent limb swelling for more than 2 years. She had C4 of 0.09 g/L, C1 esterase inhibitor concentration of 0.05 g/L, C1 esterase inhibitor function <0.01, SERPING1 gene c.882C>G variation. Two out of the other 12 family members experienced intermittent skin swelling. Literature review meets the search criteria with 0 Chinese literature and 15 English literature, including a total of 524 cases of hereditary angioedema in children. Combined with 2 families in this group, there are 5 families with hereditary angioedema in children as the proband. The onset time is 1-15 years old, and the diagnosis delay time is -0.9 to 20.0 years. Two hundred and sixty-three cases (50.2%) of the children had a family history survey, of which 229 cases (87.1%) had a positive family history. Two hundred and fifty-seven cases (49.0%) had clear disease classification, with type Ⅰ being the main type, accounting for 234 cases (91.1%). The clinical symptoms of 296 children (56.5%) were described in detail, including 262 cases (88.5%) with skin edema in different parts, 176 cases (59.5%) with abdominal pain, and 61 cases (20.6%) with upper respiratory tract edema in the throat. Conclusions: Hereditary angioedema is mainly characterized by episodic skin and mucosal swelling, with individualized differences in the locations and characteristics of the onset. Hereditary angioedema in children is often overlooked, and patients with a positive family history of episodic skin and mucosal swelling need to actively undergo complement level testing.

Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction

BackgroundFibrodysplasia Ossificans Progressiva (FOP; OMIM #135100) is an ultrarare genetic disorder characterised by congenital bilateral hallux valgus (CBHV), intermittent soft tissue swellings and progressive heterotopic ossification. We report a three-month-old girl with great toe abnormalities similar to FOP, in whom comprehensive clinical workup and genetic investigations illustrates an alternative diagnosis.Case presentationA three-month-old girl presented with CBHV. The antenatal period was unremarkable, she was born by spontaneous vaginal delivery with an uneventful subsequent course, except for maternal concern of her bent toes which received reassurance from several health professionals. Her mother’s persisting concerns were explored via the internet and social media leading her to request referral to an expert bone centre for consideration of FOP. On examination, she was thriving, there was no dysmorphism, subcutaneous lumps, skeletal or extra-skeletal deformity except for shortened great toes with lateral deviation of the proximal and distal phalanges. FOP was a feasible diagnosis, for which CBHV is highlighted as an early sign. A cautionary potential diagnosis of FOP was counselled, including advice to defer intramuscular immunisations until genetic results available. Genetic investigation was undertaken through rapid whole genomic sequencing (WGS), with analysis of data from a skeletal dysplasia gene panel, which demonstrated no ACVR1variants. The only finding was a heterozygous variant of unknown significance in BMPR1B (c1460T>A, p.(Val487Asp)), which encodes a bone morphogenic receptor involved in brachydactyly syndromes A1, A2 and D and acromesomelic dysplasia 3 (only the latter being an autosomal recessive condition).ConclusionThis report highlights that CBHV serves as a vital diagnostic indicator of FOP and affected infants should be considered and investigated for FOP, including precautionary management whilst awaiting genetic studies. The second educational aspect is that CBHV may not represent a generalised skeletal disorder, or one much less significant than FOP. Receptor-ligand BMP and Activins mediated interactions are instrumental in the intricate embryology of the great toe. Recognition of non-FOP conditions caused by alterations in different genes are likely to increase with new genomic technology and large gene panels, enhancing understanding of bone signaling pathways.

Atypical May-Thurner Syndrome Caused by Large Lumbar Osteophyte

AbstractAn 82-year-old man presented to the emergency department with intermittent left lower extremity swelling for the last 4 to 5 months that limited his daily activities. The patient had a negative lower extremity venous duplex 3 months prior and had been treating symptoms with compression stockings but experienced no improvement. Venography showed venous outflow obstruction in his left common iliac vein and the etiology was confirmed to be a lumbar vertebral osteophyte compressing the vein. The patient underwent endovascular treatment with balloon venoplasty and stent placement over the lesion with return of adequate outflow. This report describes treatment of symptomatic left common iliac venous compression with endovascular therapy alone.

Parapharyngeal Abscess: A Model of Continuity and Contiguity Deep-Neck Space Infections: A Diagnostic Dilemma!

The aims of the present case report were to review, computed tomography (CT) scans, clinical signs, treatment, and outcome of parapharyngeal space infections. These infections remain an important health problem with significant risks of morbidity and mortality. The term parapharyngeal abscess or infection is composed of two different disorders: infection located in the posterior part of the PPS with no invasion into the parapharyngeal fat and the second disorder is when the infection involving the parapharyngeal fat may be termed parapharyngeal abscess or deep neck abscess. Diffusion into the mediastinum and other severe complications are frequent. A 59 year old male, presented with three days history of intermittent high grade fever and left neck swelling which was rapidly increasing in size and associated with stridor, odynophagia and neck pain. The infection and accumulation of purulent discharge extend into the pharyngomaxillary space and inferiorly is located at the greater cornu of the hyoid bone. Temporary tracheostomy for respiratory assistance was performed. The frequent co-existence of parapharyngeal abscess and peritonsillar abscess favours careful consideration of addition of tracheotomy to lateral cervicotomy. Parapharyngeal abscess are deep neck abscesses that are common and thorough knowledge of their complex anatomy and aetiologies is essential in their treatment. Urgent surgical drainage is therefore mandatory.

A High-Speed Ski Crash Leading to a Unique Synovial Cause for Knee Pain

The presented case involves the evaluation, diagnosis, and management of a 20-year-old male high-level skier who presented with persistent right knee pain following a ski crash. The patient reported hitting his right knee against a tree during the accident, resulting in intermittent swelling and a sensation of a mass within the knee. Despite some initial improvement in the sensation, the pain then became persistent and worsened by activity. Physical examination revealed limited symptoms during gait and functional movements, as well as restricted medial joint line tenderness and a mildly positive McMurray's test on the right knee. Magnetic resonance imaging findings prompted an orthopedic referral, leading to a right knee arthroscopy. The procedure involved resection of nodular synovitis and a diffuse synovectomy, with pathology confirming pigmented villonodular synovitis (PVNS). Despite post-operative complications, including methicillin-resistant Staphylococcus aureus bacteremia, ultimately, the patient's recovery was successful with the gradual restoration of pain-free range of motion through physical therapy. Follow-up assessments and magnetic resonance imaging scans indicated sustained improvement and no signs of pigmented villonodular synovitis recurrence.

Abstract 14188: Myopericarditis as the Initial Presentation of Systemic Lupus Erythematosus

Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disorder that can affect any organ. However, myocardial involvement is uncommon and rarely presents as the initial manifestation of SLE. Case: We present a case involving a 31-year-old male with no past medical history who presented to the emergency department with chest pain, fatigue, and intermittent swelling in his hands and feet. Initial workup was remarkable for high sensitivity troponin of 11, 821 and respiratory viral panel positive for parainfluenza. Results: Evaluation with left heart catheterization showed no obstructive coronary artery disease thus a cardiac MRI was obtained for further investigation. It showed late gadolinium enhancement involving the lateral apical wall extending to the apex as well as the lateral wall at the base (figure 1). The initial diagnosis was suspected to be viral-induced myopericarditis. However, he started developing accelerated acute kidney injury out of proportion to the current clinical presentation leading us to pursue rheumatological workup as it could explain the cardiac and renal pathologies. He was found to have ANA &gt;= 1:2560, positive dsDNA, and positive anti-smith antibody. Kidney biopsy revealed diffuse spike formation on the glomerular basement membrane and focal endocapillary proliferation and segmental sclerosis consistent with lupus nephritis. He was started on prednisone and mycophenolate mofetil resulting in symptom and disease control. Conclusion: Myocardial involvement of SLE is uncommon and can be a life-threatening condition in the acute phase; however, the disease has an overall good prognosis with early treatment.

Key Findings and Experience in the Management of Juvenile Recurrent Parotitis with Sialoendoscopies—A Retrospective Study

Introduction: Juvenile recurrent parotitis (JRP) is characterized by intermittent swelling of one or both parotid glands, accompanied by pain and associated with non-obstructive sialectasia. Sialoendoscopy is considered a significant treatment for JRP, being a safe and minimally invasive treatment method with good clinical outcomes. The purpose of this study was to assess the procedure of sialoendoscopy as a treatment modality for JRP and discuss the relevant literature on this topic. Methods: This study retrospectively reviewed clinical records of children diagnosed with JRP who were treated in the Maxillofacial Department of the Tzafon Medical Center, Poriya, Israel, with sialoendoscopy between May 2016 and March 2023. Data on demographics, the site of symptoms, follow-up duration, treatment outcome, and complications were collected for each patient. The inclusion criteria were patients not older than 16 years of age, with at least two episodes of swelling of the parotid gland unilaterally or bilaterally during a time period of 6 months. The exclusion criteria were patients older than 16 years of age, and patients who were diagnosed with sialolithiasis or Sjogren’s syndrome. Results: The study included 17 children, of whom 12 (70%) were boys and 5 (30%) were girls. The mean age of the children at the time of the procedure was 6.7 years and ranged from 3 to 16. The affected parotid gland was the left in 7 children (41%), right in 9 children (53%), and bilateral in 1 child (6%). The average follow-up time was 45.17 months and ranged from 5 to 81 months. A total of 15 children (88%) were deemed to have a successful treatment result regarding the frequency of episodes after therapy and subjective improvement. Full resolution was seen in 10 children (59%). The sialoendoscopy findings were avascularity in the walls of the parotid duct, strictures, and mucous plugs. Pathological findings in sialoendoscopy were found in 11 out of 12 asymptomatic contralateral glands (p-value &gt; 0.001). Conclusions: Sialoendoscopy under general anesthesia is a worthwhile and practicable treatment method for treating JRP. Satisfactory results were seen in the vast majority of patients. It is recommended to perform bilateral sialoendoscopy also in cases of a unilateral symptomatic gland. This treatment method is effective, safe, and potentially repeatable.

E56 A 16-year diagnosis delay of a patient with Pigmented Villonodular Synovitis

Abstract Introduction Pigmented villonodular synovitis (PVNS), a subtype of tenosynovial giant cell tumours, is a rare non-cancerous proliferative synovial disorder usually affecting the knee in adults(1). The incidence rate is 1.8 patients per million people of the general population, with few reports amongst the paediatric population, hence it is frequently misdiagnosed(2). It has a slow onset of symptoms and has been noted to take ∼18 months to make a definitive diagnosis(3). Objective To describe a case of pigmented villonodular synovitis in a seventeen-year-old African female. Methods A retrospective chart review was done to ascertain the clinical presentation and management of the patient. Case description We present a case of a 17-year-old African female who presented with bilateral knee pain and swelling from 10 months of age. She had been on follow-up at a peripheral facility for 14 years, where she was being managed with methotrexate 12.5 mg weekly and folic acid 5 mg OD for Juvenile Idiopathic Arthritis with no marked improvement in her symptoms. In view of her poor response to therapy, the mother stopped her treatment 3 months prior to presentation in our facility. She initially had intermittent bilateral swelling of the small joints of the hand that were tender which eventually evolved to involve both knee joints. The pain was worse in the morning and was associated with the inability to ambulate and occasional night awakening. The systemic inquiry was otherwise unremarkable. She had an unremarkable birth history, and normal developmental milestones. She was however shorter than her peers and had not attained menarche. The patient had been admitted 8–10 times per year during the span of her illness for similar complaints and had undergone multiple knee joint fluid aspirations to relieve the swelling and several laboratory tests and radiological studies were done. On assessment, she was noted to be of fair general condition with gross asymmetric swelling of both knees and a surgical scar over the right knee with no limitation in the range of movement. There was minimal effusion of bilateral elbows and ankles, and the MCP, ICP and wrist joints weren’t affected. The patient had thoracic scoliosis, a grade 3/6 systolic murmur on the left lower sternal border, no radiation, and hepatomegaly 4 cm below the costal margin. She was prepubertal on sexual maturation rating. There was no central nervous system, abdominal, or respiratory abnormalities. A series of lab investigations to exclude the possibility of juvenile idiopathic arthritis were conducted. This panel included a complete blood count, which showed hypochromic, microcytic anaemia, c-reactive protein was raised at 61 mg/l but normal biochemistry and unremarkable autoantibody profile. Imaging done included a bilateral knee X-Ray followed by a bilateral knee MRI which showed large volume bilateral knee joint effusions associated with synovial-based masses causing extrinsic periarticular bony erosions and intra-articular synovial proliferation forming a villonodular appearance. The patient was referred to orthopaedic surgery and bilateral arthrotomy, drainage and synovectomy of both knees were done. She continues to be followed up in our paediatric rheumatology and orthopaedic clinic with good mobility and no other co-morbidities. She is currently undergoing work up for a delayed puberty. Conclusion Pigmented villonodular synovitis is a rare disease in the paediatric population. In the absence of awareness of its existence and expertise on how to diagnose it, patients may be misdiagnosed and mismanaged over a long duration of time as seen in the presented case.

Delayed Sublingual Edema Following Neonatal Mandibular Distraction Osteogenesis.

The authors aim to report a rare sequela following neonatal mandibular distraction osteogenesis (MDO) involving delayed onset sublingual swelling. They performed a retrospective chart review of 3 patients who presented with delayed onset sublingual edema following neonatal MDO. The 3 patients presented at 2, 4, and 12 months following MDO for micrognathia secondary to Robin sequence with intermittent sublingual swelling associated with sialorrhea and feeding difficulties. There was no associated recent illness, fevers, or purulent drainage. All 3 children underwent magnetic resonance imaging which demonstrated asymmetric sublingual gland edema. The edema was located on the left sublingual gland in 2 children and was bilateral in the third. The symptoms continue to recur 25.5±3.3 months (range, 22.3-28.9) postoperatively and all are being managed conservatively. Chronic delayed onset intermittent sublingual edema is a possible long-term complication following neonatal MDO and further studies should explore the incidence and management of this finding.

Collegiate athlete with unilateral swollen arm after exercise

A collegiate football player presented to the athletic training room with the complaint of intermittent left upper extremity swelling. Deep vein thromboses as well as abnormalities of the cervical spine were ruled out initially. He was referred to a vascular surgeon and diagnosed with McCleery Syndrome after evaluation of the thoracic outlet with dynamic ultrasound testing. He was treated surgically for decompression of his venous thoracic outlet syndrome and has since made a full recovery.

A case of Amyand hernia at the Central Hospital of Yaounde and review of the literature

IntroductionAmyand's hernia is defined as an inguinal hernia, containing the appendix in the hernia sac. It is a rare form of hernia. Its management is increasingly codified.Clinical historyA 5-year-old patient with a non-remarkable past history was brought for consultation with an intermittent inguino-scrotal swelling and discomfort. Clinical examination revealed a non-tender inguino-scrotal swelling with positive transillumination. A conclusion of a communicating hydrocele was made; hence, an indication for surgery. Per operatively, we had as findings the appendix present within, and linked to the hernia sac. We performed an appendectomy and a high ligation of the hernia sac. The post-operative evolution was favourable. Anatomopathological analysis revealed a catarrhal appendix.ConclusionAmyand's hernia remains a rare pathology that can be seen in children with a persistent peritoneo-vaginal canal. Dissection of the hernia sac must be carried out carefully since it is most often discovered intraoperatively and accidental injury to the appendix, which is attached to the wall of the hernia sac can lead to serious complications.

E019 A case of RS3PE triggered by immune check point inhibitor

Abstract Background/Aims Immune checkpoint inhibitors (ICIs) are increasingly being used in oncology and there is growing evidence of rheumatological problems arising in these group of patients. ICIs have been approved for the treatment of several cancers including non-small cell lung cancer, renal cell carcinoma, Hodgkin lymphoma and other malignancies. Pembrolizumab, an anti-PD1, is known to cause inflammatory arthritis in some patients, and we report a case of relapsing-remitting synovitis with pedal oedema (RS3PE) in a patient with lung cancer. Methods A 67-year-old lady was diagnosed with adenocarcinoma in her left lung with pleural and pulmonary metastasis. She was commenced on carboplatin, pemetrexed and pembrolizumab initially for 4 cycles followed by pembrolizumab maintenance therapy for another 2 years. However, while on pembrolizumab therapy, she started to develop intermittent pain and swelling in her small joints of the hands and feet. There was marked pitting pedal oedema extending up to the knee along with swelling of the dorsum of the hand. She had intermittent swelling in the knee joints as well. Results The blood tests were negative for rheumatoid factor, anti-CCP and ANA. The CRP was markedly raised (120) from her previous values since she started developing joint symptoms. The kidney and liver function tests were within normal limits. A CT chest, abdomen pelvis was done which did not reveal any metastasis or progression of lung cancer. At the time of the review she was started on prednisolone 20mg once daily. Following this, the joint pain and swelling started to resolve, and the patient was advised to taper the steroids gradually. The pembrolizumab therapy was stopped few months later. The pedal oedema resolved within a few weeks of starting steroids and the joint inflammation settled after stopping the treatment. Conclusion ICI therapy has been known to trigger inflammatory arthropathy like RA. Psoriatic arthritis, undifferentiated monoarthritis and oligoarthritis, RS3PE and tenosynovitis have also been reported. Most published cases are mild to moderate in severity often responding to corticosteroids. Several patients have been treated with traditional DMARDs and biologics. RS3PE syndrome could be part of the paraneoplastic process but the onset of symptoms after starting pembrolizumab and rapid resolution after stopping the treatment indicates that this is likely a drug-induced adverse effect. Disclosure D. Ramachandran: None. W. Mushtaq: None. D. Makkuni: None.

Intermittent bilateral facial swelling in a 30-year-old healthy woman: What is your diagnosis?

Intermittent bilateral facial swelling in a 30-year-old healthy woman: What is your diagnosis?

A Case of Isolated Cardiac Sarcoidosis: An Underdiagnosed Disease With Little Diagnostic Consensus

Sarcoidosis is a rare cause of cardiomyopathy and can be missed when there is no pulmonary involvement. We present the case of a 55-year-old woman with isolated cardiac sarcoidosis who presented with symptoms of worsening intermittent dyspnea, weight gain, and lower extremity swelling. Cardiac evaluation showed a nonischemic cardiomyopathy secondary to an inflammatory cause. Cardiac magnetic resonance and positron emission tomography scans were performed that led to the diagnosis of isolated cardiac sarcoidosis. Recent updates in diagnostic criteria have allowed the use of imaging modalities alone to confirm the diagnosis in place of biopsy.

A CASE OF AN UNRECOGNIZED AUTOINFLAMMATORY DISEASE

<h3>Introduction</h3> Yao syndrome is an auto-inflammatory disease involving mutations in the nucleotide-binding oligomerization domain 2 gene. We describe a case of a patient with Yao syndrome who remained undiagnosed for years. <h3>Case Description</h3> A 50-year-old Caucasian woman with history of Coronary Artery Disease s/p coronary artery bypass graft, Diastolic Heart Failure, Type II Diabetes Mellitus and Hypertension was referred to Immunology for evaluation of elevated ESR (58-107 mm/hr) and CRP (1.7-5 mg/dL). She had previously seen Hematology, Infectious Disease, Dermatology, Gastrointestinal Disease and Rheumatology who had ruled out autoimmune, malignancy or infectious etiologies. She reported a 20-30 year history of recurrent fevers, diffuse arthralgias involving both small and large joints with intermittent lower extremity swelling non responsive to high dose Furosemide, episodic abdominal pain, vomiting, diarrhea, recurrent maculopapular, erythematous rashes on face/extremities and dry mouth/dry eyes. A periodic fever panel was sent which showed a c.2798 +158C>T heterozygous mutation in the NOD2 gene. She was started on Canakinumab with improvement in her dermatitis, arthralgia, and GI symptoms with decreased CRP (0.4-0.5 mg/dL) and ESR (24-29 mm/hr). <h3>Discussion</h3> With a prevalence of 1 in 10,000-100,000, this is an uncommon but not rare disease to encounter. Yao Syndrome diagnosis requires 2 major criteria (periodic occurrence, recurrent fever or dermatitis), at least 1 minor criteria (polyarthralgia/distal extremity swelling, abdominal pain/diarrhea, sicca-like symptoms, pericarditis/pleuritis), molecular criteria (NOD2 IVS8+158 or R702W) and exclusion criteria (high ANA/IBD/Blau Syndrome/Sarcoid/Sjogren). This case illustrates the importance of considering auto-inflammatory disorders for periodic inflammatory symptoms and the necessity for genetic testing.

P152 African Woman With a Knee Knocked by a Rare Dematiaceous Fungi

Poster session 2, September 22, 2022, 12:30 PM - 1:30 PMObjectives/IntroductionIncidence of fungal peri-prosthetic joint infection (PJI) is rare (1%-3%) and the majority are caused by Candida and Aspergillus. We report a peri-prosthetic knee joint infection caused by a rare dematiaceous fungi—pleurostomophora richardsiae, probably the first case in the world.Methods/Case DetailsA 78-year-old East African female from Malawi, housewife, with no known medical comorbidities presented with a chronic history of left knee pain and pus discharge. She had left knee pain since 2008 and was given several intra-articular injections between 2008 and 2010 for pain relief suspecting osteoarthritis. She denied a history of splinter injuries, trauma, systemic, or constitutional symptoms.In 2010 she underwent left total knee replacement (TKR) in the USA, but the pain persisted post-operatively associated with intermittent swelling of both knees. She was evaluated again in 2015 and revision left TKR done with single stage exchange.She was asymptomatic for a few years but symptoms worsened again and drainage of pus from her left knee started in December 2019. She was treated in Malawi with multiple courses of parenteral and oral antibiotics but did not improve.She presented to our hospital in January 2022 with swelling in left knee and restriction of movements. On examination, a discharging sinus was noted over the medial aspect of left knee. She was anemic with a normal leucocyte count, HIV negative, ESR of 85 mm/h, and CRP of 23 mg/L. Her renal and liver function tests were normal. CT left leg with sinogram showed features of chronic osteomyelitis of left distal femur and proximal tibia with active sinus tract in left tibia.Sinus tract excision with removal of prosthesis, debridement, and antibiotic cement spacer insertion was done. Bone and peri-prosthetic tissue were sent for histopathology and microbiological analysis including fungal and mycobacterial cultures. Xpert MTb was negative.Histopathology showed granulomatous synovitis with fungal hyphae and spores. Cultures grew a slender septate dark pigmented fungus, Pleurostomophora richardsiae which was confirmed by fungal PCR sequencing of internal transcribed spacer (ITS) region.Results/TreatmentShe was treated with Liposomal amphotericin B 5 mg/kg IV OD for 2 weeks followed by oral Itraconazole. She had persistent raised inflammatory markers at 4 weeks which settled after changing to posaconazole for 2 weeks. Conservative management will continue for 3-6 months with second stage revision arthroplasty/arthrodesis later.ConclusionDematiaceous fungi usually cause skin and soft tissue infections and they are extremely rare in causing prosthetic joint infection. Case reports of P. richardsiae causing osteomyelitis of foot and endocarditis are available but we couldn't find a published case of prosthetic joint infection caused by it. Identifying the causative organism in PJI is the most important step because the management depends mainly on it.Two-stage exchange in combination with antifungal administration between stages and post-revision should be the procedure of choice for fungal PJI. Incorporation of antifungal agents into cement spacers appears to be effective in eradicating local infections and reducing the duration of antifungal treatment and should be strongly considered.

MR-lymphangiography identifies lymphatic pathologies in patients with idiopathic recurrent cervical swelling.

BackgroundIdiopathic recurrent cervical swelling may be caused by lymphatic abnormalities.MethodsTen patients (9 females, mean age 51.2 ± 7) with idiopathic recurrent cervical swelling underwent MR‐lymphangiography (MRL). MR‐lymphangiograms were evaluated regarding lymphatic anatomy and flow. Individualized treatment was recommended according to MRL‐findings.Results8/10 patients presented with left‐sided, 2/10 with right‐sided swelling. Pathological lymph‐flow was identified in all cases: thoracic duct dilatation in patients with left‐sided and right lymphatic duct dilatation in right‐sided swelling, accessory thoracic lymphatics in 7/10 and reflux in 8/10 cases. In two cases, a lymphatic thrombus was identified.After treatment, symptoms resolved completely in 6/10 cases and partially in 1/10 cases. The remaining three patients have intermittent swellings but have no treatment wish.ConclusionIdiopathic recurrent cervical swelling can be caused by lymphatic anomalies. MRL displays impaired lymphatic drainage, lymphatic vessel dilatation, and chylolymphatic reflux as hallmarks of this condition and may aid in targeted treatment planning.

Generalized lichenification sparing the nose

A 76-year-old man presented with a 1-year history of generalized itching, accompanied by darkening of the skin, with significant weight loss and intermittent swelling of the legs. On examination, there was diffused, uniform, gray-brown colored pigmentation with lichenification of the skin accompanied by fine, semiadherent scales and generalized lymphadenopathy (Figs 1 to 3). The facial appearance was striking with exaggeration of the longitudinal and transverse furrows, supraciliary madarosis, and clear sparing of the nose (Fig 1).