United States

Abstract Title:
Case Report: Patient with an ANCA negative and treatment-resistant Granulomatosis Polyangitis with CNS involvement.

Background:
Granulomatosis polyangiitis (GPA) is a rare autoimmune disorder affecting the small and medium-sized vessels, most seen in people around 40-60 years of age. Anti-neutrophil cytoplasmic autoantibodies (ANCAs) directed to proteinase 3 (PR3-ANCA) or myeloperoxidase (MPO-ANCA) are strongly associated with ANCA-associated vasculitis. However, about 10-20% of patients are ANCA negative making it harder to diagnose patients with non-specific symptoms.

Case Presentation:
A 55-year-old female was diagnosed with ANCA negative GPA with CNS involvement. The patient was initially treated with a 3-month course of prednisolone; however, upon recurrence, she was then started on pulse methylprednisolone treatment with cyclophosphamide and rituximab. Despite treatment, the patient developed ischemic stroke and osteomyelitis at the base of the skull. She continued to deteriorate and was subsequently started on high-dose steroids, immunosuppressants, vasopressors, and broad-spectrum antibiotics, including colistin, ciprofloxacin, and teicoplanin. The patient had notable clinical improvement after an array of medical management, transferred out to long term rehabilitation care and subsequently discharged.

Discussion:
GPA is a systemic inflammatory disease characterized by necrotizing granulomatous inflammation and pauci-immune small vessel vasculitis of the upper and lower respiratory tract and kidneys. Most individuals are ANCA positive, and just 10% are ANCA negative. Most ANCA-negative patients have restricted disease or disease that only affects the upper and lower respiratory tracts, and the involvement of the CNS is infrequent.
Patients with ANCA-associated vasculitis have historically reacted successfully to large doses of prednisone combined with immunosuppressants, with a response rate as high as 87.7%. In our patient, the absence of ANCA may have altered the clinical response of GPA to such medications.
Advances in its management include targeted therapy which has emerged as a promising means of treating cyclophosphamide-resistant patients with GPA. Rituximab and infliximab have shown their role in handling GPA patients resistant to cyclophosphamide.
Our case demonstrates the value of prompt rheumatology team intervention when GPA is suspected, even when c-ANCA results are negative. Early detection can prevent the disease from spreading, which would otherwise have severe local and systemic effects.


2022 AMA Research Challenge

Case Report: Patient with an ANCA negative and treatment-resistant Granulomatosis Polyangitis with CNS involvement.

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Systemic Lupus Erythematosus is an autoimmune disease with a variety of dermatologic findings; in this report, we review a unique case of Systemic Lupus Erythematosus and conduct a literature review of similar pediatric presentations. A previously healthy 13 year-old female presented with painful, oral mucosal bullae filled with sanguineous fluid. She endorsed a tender right knee, but physical examination revealed no additional abnormalities. After CBC demonstrated severe thrombocytopenia, anemia, and leukopenia, the patient was admitted. Further workup, including Coombs positive RBCs and positive ANA, anti-Smith, and anti-dsDNA antibodies, confirmed Lupus as the etiology of this patient’s presentation. A form of Blistering Systemic Lupus Erythematosus was likely responsible for the patient's oral manifestations. After receiving 60g IVIG and 3 days of high dose pulse corticosteroids, her dermatologic symptoms resolved. Although cases of Blistering Systemic Lupus Erythematosus with mucosal bullae have been described in the literature, this is the first documented case of hemorrhagic mucosal bullae as the presenting symptom of Systemic Lupus Erythematosus in a pediatric patient. This case may help guide future diagnostic planning when confronted with a pediatric patient presenting with atypical mucosal lesions, expediting diagnosis and providing the patient with more efficient treatment.

Identifying Systemic Lupus Erythematosus Presenting as Hemorrhagic Oral Bullae in a COVID Positive Pediatric Patient

Background:
Retroperitoneal fibrosis (RPF) is a rare condition involving fibrotic inflammation which encases and compresses retroperitoneal structures. 2/3 of cases are idiopathic and often fall under the spectrum of IgG4 related diseases. The remaining 1/3 are secondary to infection, drugs or malignancy.

Case Presentation:
A 45-year-old man with hypertension, back pain, and psoriasis (started on adalimumab 6 months) ago presented to the emergency department with abdominal/back pain, leg edema, and AKI in the setting of 9 months of night sweats, weight loss, and constipation. A CT abdomen was read as retroperitoneal hematoma concerning for ruptured abdominal aortic aneurysm (AAA). He was transferred urgently to our tertiary medical center where he was placed on nicardipine and esmolol drips and proceeded to CT angiogram. This was negative for AAA but instead showed a large retroperitoneal mass surrounding the abdominal aorta extending from above the level of the inferior mesenteric artery inferior into the upper pelvis, and laterally as far as the cecum. He was also found to have bilateral hydronephrosis for which nephrostomy tubes were placed.

The patient underwent an FDG-PET scan showed high FDG avidity of his mass. Finally, biopsy of the mass showed an increased polyclonal population of plasma cells. 5% of IgG+ cells stained for IgG4. He was initiated on high dose prednisone for treatment of retroperitoneal fibrosis and was discharged with nephrostomy tubes. His home adalimumab was discontinued. His retroperitoneal mass slowly decreased in size on serial CT scans and his symptoms resolved over several months.

Discussion:
A rare illness, RPF is often mistaken for AAA in the emergency setting due to its predisposition for the peri-aortic region. A careful history is crucial to the diagnosis of RPF. The constellation of flank pain, constipation, and hydronephrosis with subacute inflammatory symptoms should raise suspicion for this disorder. RPF should be especially considered in patients with malignancy or those on certain medications including ergot alkaloid derivatives and biologics. Adalimumab is not a commonly reported culprit in the literature but was discontinued for this patient. Recognition of this disease is crucial as most forms are highly responsive to prompt initiation of steroids.

Retroperitoneal Fibrosis: A Rare Mimic of AAA

The rare presence of both Anti-TIF1-y and PL-7 antibodies in a case of Dermatomyositis.

Background: Rib fractures are a well-known risk of cardiopulmonary resuscitation (CPR) in children and adults alike. While fractures of the ribs commonly occur during CPR, herniation of the lung through the intercostal spaces is rare. This clinical vignette details the case of an elderly woman who experienced subcutaneous emphysema and lung herniation following manual CPR.
Methods: Case Report
Results: A 72-year-old woman with a history of hypertension, hyperlipidemia, chronic obstructive pulmonary disease, gastroesophageal reflux disease, cerebral vascular accident with a left basal ganglia infarct, bladder cancer with urostomy, depression, anxiety, and colon cancer was seen following two cardiac arrests at another facility. While performing CPR during the second cardiac arrest, the patient endured a rib fracture, left lung herniation, and diffuse subcutaneous emphysema that extended from the face to the torso. The patient was intubated and transferred to another hospital. Upon arrival, bilateral chest wall blow holes were placed and
bilateral wound vacuum-assisted closure devices were applied. Following partial resolution of the subcutaneous emphysema, the patient was placed under general anesthesia and underwent a flexible bronchoscopy and left video-assisted thoracoscopy. Thoracoscopy revealed lung herniation and penetrating injury as a result of the broken ribs piercing the entrapped lung. The incarcerated anterior upper left lobe and part of the lingula were reduced and the defect in the ribs was closed with two V-Loc sutures endoscopically. The patient experienced no acute issues post-operatively.
Conclusion: In the rare case that a patient experiences lung herniation following CPR, video-assisted thoracoscopy and endoscopic reduction of the incarcerated lung offers a plausible surgical treatment.

A Case of Intercostal Lung Herniation as a Result of Cardiopulmonary Resuscitation

Herein, we describe the successful transplantation of a brain-dead male donor with a remote history of pectus excavatum (PEX) repair. On computed tomography (CT), the ascending aorta appeared to be in close proximity to the metallic structures located in the sternum from the repair. Before harvesting the heart, visual and digital inspections were used to confirm the space between the sternum and ascending aorta where severe adhesions were found near the lower sternum. After the pericardium was opened, the subsequent recovery of the heart was performed as usual. At one year post-transplant, the recipient continues to have normal graft function.

History of Ravitch Procedure for Pectus Excavatum, Not a Contraindication for Heart Procurement

Coarctation of aorta associated with a sinus venosus atrial septal defect is rarely seen in neonates. Such a life-threatening presentation requires special surgical consideration. Patient improvement depends on emergent repair of the coarctation in order to reduce cardiac workload and increase recovery of left ventricular function. Complete repair at the first surgery is ideal and generally indicated, but in some circumstances may not be possible -- staged repair may be needed. We present a case of a two-month-old male who was referred for evaluation of a heart murmur and hypertension. Echocardiography revealed coarctation of the aorta, bicuspid aortic valve, sinus venosus atrial septal defect, doming of the pulmonic valve, and left ventricular dysfunction with EF of 67%. Ventricular dysfunction complicates any cardiopulmonary bypass with circulatory arrest necessary for a single-stage median sternotomy therefore, the patient had to undergo a staged-repair. The initial procedure done was an extended end-to-end repair of the coarctation of the aorta through a left posterolateral thoracotomy. The sinus venosus defect was later closed through a median sternotomy. The case is discussed, and the literature reviewed.

Management of Coarctation of the Aorta, Sinus Venosus Atrial Septal Defect, and Left Ventricular Dysfunction in an Infant

Background: Penile fractures are a well-documented but rare urological emergency. Typically, they are caused by a blunt injury during sexual intercourse. The fracture occurs upon rupture of the tunica albuginea and is accompanied by a distinct “pop”. Historically, surgical exploration has been the preferred treatment to repair the tunica albuginea to prevent sequelae such as erectile dysfunction, Peyronie’s disease, and voiding dysfunction. Recent case reports have demonstrated good functional outcomes with conservative management. We report a case of penile fracture where surgical exploration was not performed.
Case Presentation:
A 30 year-old male presented to the emergency department 1 week post suspected penile fracture. He reported having intercourse and heard a “pop” with immediate detumescence of his erection. He denied any difficulty with voiding following this trauma and was still able to sustain erections with pain. Patient noticed penile bruising the same day as the trauma and noticed left groin bruising 2 days post-injury. An MRI of the pelvis on the day of presentation confirmed rupture of the tunica albuginea of the penis with associated hematoma. Due to the delayed presentation, a shared decision making approach was utilized to discuss surgery vs conservative management. The patient opted to defer surgery and was advised to suspend sexual activity for 4 weeks and wait 4-6 weeks for resolution of the hematoma and bruising. On follow up one month post-injury, the patient noted healthy erections, with no pain or curvature. The physical exam was improved with a significant decrease in hematoma. Three month follow up also demonstrated healthy erections with no pain, curvature, or voiding dysfunction.

Discussion:
The most common cause of penile fracture is blunt trauma to the erect penis which causes a disruption of the tunica albuginea and rupture of the corpus cavernosum. Penile fractures are a well-documented but underreported urological emergency. The most preferred treatment is typically surgical exploration with corporal repair to decrease risk of penile curvature and erectile dysfunction from corporal scarring.

This patient’s management with conservative measures shows that penile fracture may not always necessitate surgical exploration. His fracture has resolved, and he is currently able to engage in sexual intercourse and maintain erections for the duration of intercourse without pain. We report this case to add to the growing body of literature that conservative management of penile fractures in the appropriately selected patient is an acceptable treatment option.

Case Report: A Case of Penile Fracture Resolution with Conversative Management

A Case of Cocaine-Induced Goodpasture Syndrome

Background

Endocarditis continues to be a predominant cause of morbidity and mortality in patients with systemic lupus erythematosus (SLE). Given that patients with SLE are at risk for both nonbacterial thrombotic endocarditis (NBTE) and infective endocarditis, the distinction between etiologies is critical for providing appropriate therapy; however, this continues to pose a diagnostic challenge.


Case Presentation

An 18-year-old female with a past medical history of SLE with hemodialysis-dependent ESRD due to stage IV lupus nephritis presented with a 6-month history of progressive fatigue, dyspnea, and tachypnea. She was afebrile, tachycardic, and had a 1/6 rumbling diastolic murmur at the left lower sternal border. TTE revealed severe mitral stenosis and thickened mitral valve leaflets with severely restricted mobility and a mobile, echogenic mass on the atrial aspect of the anterior leaflet. Because of her severe valvular disease and accompanying symptoms, the patient underwent a mitral valve replacement. Heavy growth of S. pyogenes from the mitral valve tissue specimen was demonstrated via ¬MALDI-TOF identification. Antibiotic susceptibility testing showed sensitivity to penicillin, and she was continued on IV penicillin G for 6 weeks following mitral valve replacement.


Discussion

NBTE is a non-infectious form of endocarditis that is most commonly associated with advanced malignancy (80%), followed by SLE. The modified Duke criteria can be helpful in discerning between infectious and non-infectious etiologies of endocarditis, and the absence of typical organisms on blood culture offers support for the diagnosis of NBTE. NBTE lesions on echocardiography are usually located at the basal, middle, or tip of leaflets and are heterogeneous in echogenicity, meanwhile, infective endocarditis lesions are more likely to occur at the line of leaflet closure and are more homogeneous in appearance. Although the prevalence of NBTE is reported to be 40-60% by autopsy, it is only definitively diagnosed in 4-6% of patients with SLE due to the predominantly asymptomatic disease presentation. Given that asymptomatic patients with SLE are not routinely screened for cardiac disease with echocardiography, it is possible that sterile, non-infectious endocarditis may precede infectious endocarditis in these patients. Increased awareness of endocarditis in patients with SLE is paramount as early diagnosis and treatment reduce mortality.

Case Report: Patient with an ANCA negative and treatment-resistant Granulomatosis Polyangitis with CNS involvement.

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