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Gastrointestinal stromal tumors (GIST) are the most common type of gastrointestinal tract mesenchymal tumors. They are typically characterized by activating mutations in the KIT or PDGFRA oncogenes. They usually present incidentally or with chronic and nonspecific symptoms like bloating, early satiety, fatigue, or anemia in patients over the age of 60 years. Approximately 5% of cases will present with an abdominal mass. Up to 10% of GISTs will present with advanced disease where the primary tumor is difficult to establish. We present a case here of a metastatic GIST with an unusual and late presentation, with a palpable abdominal mass, and without an obvious primary tumor on initial CT/ MRI imaging. 


AMA Research Challenge 2022

Metastatic Gastrointestinal Stromal Tumour: A Rare Case

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Nivolumab is a monoclonal antibody which blocks PD-1. It acts a checkpoint inhibitor and is used both alone and in combination to treat variety of cancers like melanoma, non-small cell lung cancer,squamous cell cancers of head and neck among others.Here we present a rare case of nivolumab induced hypothyroidism presenting as a case of severe hyponatremia.

Nivolumab induced hypothyroidism presenting as a case of severe hyponatremia

OMG, a Case Report

Posterior Reversible Encephalopathy Syndrome in the Setting of Uncontrolled Hypertension and Diabetes Mellitus

Role of Shoulder Injury Related to Vaccine Administration (SIRVA) in the COVID-19 Pandemic

Septic arthritis of the TMJ is a rare bacterial infection of the joint space, with a reported incidence of 2 to 10 cases per 100,000 patients. Its uncommonness in the clinical setting has led to a corresponding scarcity in the literature, and as a result, SATMJ has no definitive management guidelines in place. Owing to dangerous sequelae including abscess formation or total joint destruction, it is all the more essential to provide rapid therapeutic intervention. Here we present a case of a patient with a history of chronic mastoiditis and otitis media as well as skull base osteomyelitis, who presented with symptoms concerning for SATMJ. Our patient was a 62-year-old male who presented from a nursing facility with one week of progressive left-sided facial swelling and pain. Though the patient was afebrile and had a normal white blood cell count, CT imaging of the maxillofacial bones showed erosive changes at the left TMJ, most consistent with septic arthritis, and an adjacent multilocular abscess. The patient was placed on empiric vancomycin and zosyn; drainage of the abscess by ENT yielded 2 mL of purulent fluid, though culture was negative. The patient’s pain and swelling subsequently improved, and he was discharged with a four-week course of daptomycin and cefepime. Common etiologic factors in SATMJ include contiguous spread from nearby infectious sources. Our patient’s triad of oromaxillofacial pathologies appears to be unique in the literature, and further reflects the role that local infection can play in seeding the joint. Staphylococcus aureus is the most common offending organism, with Neisseria and H. flu also isolated on occasion. However, due to the prompt initiation of antibiotics in presenting patients, joint aspirate is often found to be sterile. Owing to the ambiguity of presenting symptoms and laboratory values, imaging via CT or MRI is considered the most accurate method of diagnosis. Treatment of SATMJ is accomplished through dual therapy of proper antibiotic coverage and drainage of the joint space. As seen in our patient, rapid detection and an equally timely treatment of his condition resulted in a positive clinical course and a successful outcome.

Septic Arthritis of the TMJ in the Setting of Mastoiditis, Otitis Media and Skull Base Osteomyelitis

Introduction:
Spinal stenosis is the narrowing of intervertebral foramina most commonly caused by degenerative changes in the vertebral bodies. Other common causes include achondroplasia, ankylosing spondylitis, or Paget disease. We report a case of a 32-year-old male who presented with difficulty walking and was found to have a rare culprit, spinal epidural lipomatosis (SEL).

Case Description:
A 32-year-old obese male presented with an eight-month history of progressive bilateral leg weakness and back pain, with acute worsening in the past two weeks. He also had associated bilateral lower extremity pain, weakness, numbness, and multiple mechanical falls in the past six months. On physical exam, he was afebrile and normotensive with BMI of 38. He was A/A/O x 4, with neurologic exam significant for muscle strength 2/5 in left leg, 3/5 in right leg, and 5/5 in bilateral upper extremities. He had diminished sensation below L3 in both legs, +4 bilateral patellar reflex with clonus, and upgoing bilateral plantar reflexes. Labs showed normal levels of cholesterol, triglycerides, hbA1C, and TSH. MRI thoracic and lumbar spine revealed spinal cord stenosis with cord compression and myelopathy at T5-T6 due to left central disc extrusion, thickening of ligamentum flavum, and diffuse dorsal epidural lipomatosis. Neurosurgery was consulted, and he underwent urgent T5-T6 decompressive laminectomy with partial T4-T7 laminectomies for evacuation of epidural lipomatosis. At the time of discharge to a rehabilitation facility, his weakness improved in lower extremities with 4/5 muscle strength bilaterally. 

Discussion:
Spinal epidural lipomatosis is seen in 2.5% of population and is caused by excessive adipose tissue in the epidural space. The exogenous steroid group represents 55.3% cases, while obesity-associated disease represents 24.5%. In our patient, obesity may be a driving factor for SEL. SEL is most common in patients taking exogenous steroids, such as post-transplant patients. SEL is also seen in people with type 2 diabetes mellitus, increased production of endogenous steroids, HIV on protease inhibitor therapy, Scheuermann's disease, and those on androgen antagonist therapy. 
Management of SEL depends on the presentation. With acute neurologic deficits, the first-line treatment is urgent surgical decompression. Conservative management of inciting features is recommended if there is a slowly progressive disease. It includes cessation of steroids and treatment of endocrinopathies. Weight reduction has been shown to significantly reduce SEL in obese patients, with one report recommending at least 15 kgs of weight loss to help control symptoms. If conservative therapy is not successful, decompressive surgery such as laminectomy with or without removal of fatty tissue can be considered. Removing as much fatty tissue as possible avoids post-surgical complications. Unfortunately, mortality rate within one year after surgical decompression is as high as 22%.


Spine strangler: A case of spinal epidural lipomatosis in a young male

INTRODUCTION:

Gastrointestinal (GI) manifestations are most frequently reported extra-pulmonary symptoms of COVID-19 infection with a prevalence of 10%-50%. Most common are nausea, vomiting, diarrhea, and abdominal pain. GI perforation especially spontaneous colonic perforations are rare in the disease course.


METHODS:

We report a patient with COVID-19 infection, who developed cecal perforation while recovering from COVID pneumonia, necessitating emergent surgical treatment, and the current literature was reviewed.
65-year-old male presented with shortness of breath, myalgias and fever. He was admitted to ICU secondary to acute hypoxemic respiratory failure due to COVID 19 pneumonia. He was treated with steroids, tocilizumab and remdesivir. On day-11, he developed severe abdominal pain with worsening leukocytosis. His imaging showed large pneumoperitoneum, suggestive of a perforated viscus. He underwent emergent laparotomy and was found to have non-obstructive cecal perforation. A colonic de-tension and right colectomy with ileo-transverse anastomosis was performed. The tissue pathology showed distended colon, active colitis, transmural granulocytic inflammation, and ulceration suggesting bowel perforation.


RESULTS:

ACE2 protein, a cell receptor for SARS-CoV-2, is in glandular cells of gastrointestinal epithelia. Direct viral infection, small vessel thrombosis, or nonocclusive mesenteric ischemia can cause spectrum of bowel findings. SARS-CoV-2 can have direct inflammatory effect on vascular endothelium too. Use of steroids, tocilizumab and systemic coagulopathy seen in severe COVID-19 infection also contributes to these manifestations. In our patient, an acute over-distension of colon, without mechanical distal obstruction, in the setting of COVID-19 infection & tocilizumab led to cecal perforation. Our literature review confirmed only 33 case-studies of bowel perforation in the setting of COVID-19 infection have been reported, with combined 28.5% mortality rate. Considering the worldwide incidence of this pandemic, it is a rare complication.


CONCLUSIONS:

GI perforation is a rare but dangerous complication of COVID-19. Treatment with interleukin-6 inhibitors or steroids is often associated in most cases. Our case underlines the need to be vigilant for severe GI symptoms in setting of COVID-19 infection to improve patients’ outcome.


Spontaneous Colonic Perforation as an unusual presentation of COVID-19 infection: Case Report and Review of literature

Background: Familial Mediterranean fever (FMF) is a rare autosomal recessive, autoinflammatory disease that causes recurrent attacks of fever and acute inflammation in the body. Here we have a case of a clinically diagnosed FMF pt who has a monoallelic mutation of the MEFV gene. This case is unique as the specific monoallelic mutation found has not been reported to cause FMF on its own.

Case Presentation: 13 yo male presents with 2-year history of frequent fever occurring 2-4 times per week accompanied with feeling unwell. Fevers range from 100.5-101 F, resolve with Tylenol, and can occur with sore throat and abdominal pain. No chest pain, joint pain, or rashes present. Genetic testing and evaluation revealed pt is a heterozygous carrier of a pathogenic variant in the MEFV gene, c.2177T>C (p.Val726Ala). FHx of Ashkenazi Jewish ancestry and SLE on maternal side. Workup of UA, CRP/ESR, liver + BMP, and CBC were unremarkable. Diagnosed patient with FMF type I and started on colchicine trial of 0.9 mg daily which improved symptoms. Raised to 1.5 mg daily after pt tolerated trial and symptoms significantly improved. Clinical diagnosis for FMF based on Tel Hashomer Criteria and improvement of symptoms with colchicine trial.

Discussion: FMF is the most common of the known autoinflammatory diseases. The recessive gene for FMF, MEFV, is carried by Ashkenazi Jewish, Turkish, Arabian, Mediterranean, and Middle Eastern populations. This gene encodes pyrin, a protein thought to regulate inflammation through the IL-1 signaling pathway. Severe heterozygous mutations can sometimes cause FMF in a monoallelic form, but this patient’s specific mutation has previously not been found to cause FMF. This is a unique case which demonstrates a Val726Ala heterozygous mutation to cause clinically significant FMF. Also, this case provides an opportunity to demonstrate proper treatment for this patient presentation. 


A Unique Monoallelic Presentation of Familial Mediterranean Fever

We present a 48yr old male, who presented with left flank pain
and imaging findings of bladder stone and severe right-sided hydroureteronephrosis, found to have left- sided emphysematous pyelonephritis, with bladder stone and severe rightsided hydroureteronephrosis. He initially received bilateral nephrostomy tubes, left- sided perinephric draining tube, and IV antibiotics: however, symptoms persisted. Ultimately, patient underwent left nephrectomy and open cystolitholapaxy with eventual resolution of symptoms.

Emphysematous pyelonephritis requiring nephrectomy and open cystolitholapaxy

Background
Leptomeningeal disease (LMD) is a late stage sequela to a number of malignant cancers including non-small cell lung cancer, melanoma, and breast cancer. Advances in chemotherapy, immunotherapy and targeted therapy have extended overall survival, but have also brought on an increase incidence of LMD. LMD is often associated with communicating hydrocephalus and elevated intracranial pressure due to disruption of cerebrospinal fluid (CSF) absorption. If left untreated, hydrocephalus can be fatal.

Case Presentation
We report an 18-year-old female with a history significant for malignant melanoma presenting with headaches, nausea, and vomiting three months after a craniotomy for metastatic melanoma in the temporal lobe with extension into the lateral ventricle. Ventriculomegaly apparent on brain MRI led to a diagnosis of communicating hydrocephalus, necessitating placement of a ventriculoperitoneal shunt. The shunt was placed without difficulties or complications, and postoperative CT scan demonstrated no ventricular catheter-associated blood. Following a brief
period of improved mental status and alertness, the patient rapidly deteriorated and expired in the six hours following shunt placement due to a diffuse subarachnoid hemorrhage.

Discussion
Communicating hydrocephalus secondary to leptomeningeal disease affects a high percentage of patients with leptomeningeal metastases and is routinely treated with ventriculoperitoneal shunting. Common risks of shunting include intraventricular hemorrhage or intraparenchymal hemorrhage along the catheter tract, as opposed to subarachnoid hemorrhage observed in the present case. Subarachnoid hemorrhage is also an exceedingly rare complication of leptomeningeal disease. The underlying mechanism to the observed subarachnoid hemorrhage is suspected to be related to the diseased state of the vessels within the leptomeninges and the rapid decrease in intracranial pressure from shunt placement. This case brings to light a unique complication that necessitates future consideration to determine incidence, etiology, and risks to patient treatment.

Fatal subarachnoid hemorrhage: A rare complication following ventriculoperitoneal shunt placement for communicating hydrocephalus secondary to melanoma leptomeningeal disease

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