Case Reports

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Factor VIII Eradication in Acquired Hemophilia A

Jordan Siu, Adithya Peruri, Connor Kerndt, Dawn Severson, and Prashant Patel

Acquired Hemophilia A manifests as an autoimmune condition characterized by spontaneous synthesis of IgG against Factor VIII (FVIII) occurring in 1 in 1,500,000 cases annually with an approximate 9-22% mortality1,2.A 72-year-old-male with recent hospitalization from ESBL UTI and DVT, returned to the hospital with weakness, fatigue, exertional dyspnea and diffuse ecchymosis while on Xarelto. Admission labs revealed an elevated PTT without prior personal or family history of coagulopathy. Subsequent... Read More
Neuroblastoma Masquerading as Pheochromocytoma

Rahaf Sultan, Mahalakshmi Honasoge, and Arti Bhan

Peripheral neuroblastic tumors (PNTs) are a group of tumors arising from sympathetic ganglion cells. It is a malignancy of childhood and rare in adults. The incidence in adulthood is only 0.12-0.2 cases per million per year. A 37 year old male presented with acute exacerbation of low back pain which started months prior to admission. MRI of the lumbar spine revealed a 3.6 x 3.4 cm lobulated heterogeneous mass-like... Read More
Clear Cell Renal Cell Carcinoma With a Poorly-Differentiated Component: A Novel Variant Causing Potential Diagnostic Difficulty

Kanika Taneja, Liang Cheng, Khaleel Al-Obaidy, Chia-Sui Kao, Justine Barletta, Brooke E. Howitt, Matthew J. Wasco, Nallasivam Palanisamy, Nilesh S. Gupta, Craig G. Rogers, Shannon Carskadon, Ying-Bei Chen, Tatjana Antic, Maria Tretiakova, and Sean R. Williamson

Background: Several variant histologic patterns of clear cell renal cell carcinoma (RCC) are well known, especially those with sarcomatoid and rhabdoid features. However, we have encountered rare cases in which a high-grade adenocarcinoma or urothelial carcinoma-like component would be difficult to appreciate as clear cell RCC. DesignWe retrieved 26 tumors with histologically typical clear cell RCC juxtaposed to a high-grade non-clear cell component.High grade non-clear cell component was defined... Read More
Significance of Clinical-Pathologic Correlation in a Case of HLRCC

Mehrnoosh Tashakori, Beena U. Ahsan, Daniel Hertel, Richard H. Huggins, Sean R. Williamson, and Adrian H. Ormsby

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare genetic disease, due to mutations in the fumarate hydratase gene. It is characterized by cutaneous leiomyomata, uterine leiomyomata and renal tumor. Here, we present a case report of such rare syndrome, underscoring the significance of clinical-pathologic correlation. A 54 years old Bengali male presented with multiple painful large firm skin-colored to brown skin lesions over left lower chest/... Read More
Epidural abscess secondary to frontal sinusitis in a pediatric patient

NIkki Taylor, Hanna Saad, and Karyn Ledbetter

An 11-year-old African-American male presented to the emergency department with complaints of cough, fever, and runny nose for several days and headache for one day. Review of systems was positive for chills, fatigue, loss of appetite, congestion, nausea, vomiting, and facial swelling. On physical examination, the patient appeared mildly distressed and was tachycardic. Laboratory tests revealed leukocytosis with a left shift. Chest radiograph was normal. Due to the new-onset... Read More
Unusual Headaches due to Subarachnoid-Pleural CSF Fistula

Anay Thodge, Suresh C. Patel, Michael Stone, Horia Marin, and Brent Griffith

Case presentation: We present a 67-year-old female with a long-standing history of occipital headaches. The patient previously underwent surgical decompression for suspected Chiari I malformation without relief. A patch duroplasty was performed, but symptoms persisted with new gait instability and altered mental status. Imaging at our institution showed findings of intracranial hypotension (IH), as well as a right pleural effusion. MR myelogram showed a meningocele abutting the pleural effusion... Read More
Rare Case of Adult Onset Pompe’s Disease

Supriya Todkar and Mahalakshmi Honasoge

Pompe’s disease is a lysosomal storage disease characterized by accumulation of glycogen primarily in muscle tissue. Infantile and late onset are the two common forms of this disease. We present a case of adult onset Pompe’s disease in a patient with type 1 diabetes mellitus (DM) with involvement of muscle, liver and bone. A 28-year-old male was being followed up for type 1 DM. He had long standing mild... Read More
Adalimumab-induced lupus in a patient with hidradenitis suppurativa

Dilara Turk, Gautham Vellaichamy, Alexis Lyons, Angela Parks-Miller, Tamara Nelson, Alireza Meysami, and Iltefat Hamzavi

Anti-tumor necrosis factor (TNF) agents are used to treat various inflammatory disorders, such as rheumatoid arthritis, irritable bowel disease, and hidradenitis suppurativa (HS). A known side effect of these agents is the development of autoimmunity with the formation of antinuclear antibodies and/or anti-dsDNA antibodies. Although patients sometimes develop these antibodies, they rarely exhibit clinical manifestations. If symptoms do develop, the diagnosis of anti-TNF induced lupus (ATIL) should be considered.... Read More
Progressive Multifocal Leukoencephalopathy: Opportunistic Infection in ART Era

Amit Vahia and Indira Brar

Progressive Multifocal Leukoencephalopathy (PML) is a rare, progressive, fatal disease caused by reactivation of the JC polyomavirus. It is most often encountered in patients who are immunocompromised by way of organ transplantation, hematopoietic stem cell transplant, or on certain immunologically suppressive drugs. Classically, PML has also been described in the HIV/AIDS population, although the incidence has become increasingly rare in the era of antiretroviral therapy (ART). Here, we present... Read More
Spontaneous Pneumomediastinum in a Young Female with a History of Marijuana Use

Theodora Valovska

The patient is a 21 year old female with a history of obesity, marijuana & tobacco use, presenting with right neck pain. Prior to falling asleep, she had smoked a rolled cigarette containing marijuana. She was awoken by right neck pain, which radiated to her right upper chest. Patient denied retching, dysphagia, odynophagia, or trauma. She presented to the ED and was hemodynamically stable & saturating on room air.... Read More
When values are unknown: Navigating complex medical decisions with professional guardians

Marc Vander Vliet, Kristin Chasteen, and Karen Smith

Objectives: 1. Identify challenges with complex medical decision-making in a patient that has a professional guardian. 2. Describe the ethical principles involved when the decision-maker is a professional guardian. 3. Describe a communication approach to help navigate decision-making with professional guardians. Background: Decision-making is challenging when patients are unable to express their values. Surrogate decision-makers ideally make decisions using a model of substituted judgement. However, court appointed guardians without... Read More
Why is My Skin Turning Black? A Rare Side Effect of Capecitabine

Jesse Veenstra, Daniel Gold, and Joseph McGoey

Capecitabine is an oral chemotherapeutic agent that is converted to 5-fluorouracil (5-FU) by thymidine phosphorylase and is frequently utilized for adjuvant therapy in breast and colorectal cancer. The most common cutaneous side effect due to capecitabine is hand-foot syndrome (HFS) which manifests as tingling and erythema that can progress to swelling, blisters, desquamation, and pain. Hyperpigmentation of acral skin can occur in association with HFS, particularly in non-Caucasian patients,... Read More
An Unusual Presentation of Penetrating Aortic Ulcers, A Case Report

Samantha Ward and Abby Waterfield

Penetrating aortic ulcers (PAU) were recognized as a separate disease process from aortic dissection in 1986[1] and affects 0.6 - 2.1 in 100,000 people per year[2]. It is estimated that 1 in 8 patients with penetrating aortic ulcers will progress to aortic dissections[3]. Patients with PAUs often present with severe chest pain, severe back pain, shortness of breath and unstable vital signs, often mimicking aortic dissection or pulmonary embolism.... Read More
An unusual case of autoimmune hemolytic anemia-thinking outside the box

Paul Williams, Scott Schwartz, and Ileana Lopez-Plaza

A 27 year old male with no significant past medical history presented to an outside hospital for chief complaints of nausea/vomiting, epigastric pain, and acute jaundice. Initial laboratory workup revealed a hemoglobin of 5.5 g/dl, normal WBC and platelet count, elevated direct bilirubin (10 mg/dl), elevated lactate dehydrogenase (969 IU/L), low haptoglobin (<8 mg>/dl), the peripheral smear revealed rare polychromasia and spherocytes, a positive direct antiglobulin test (DAT: BS... Read More
A Rare Presentation of Systemic Lupus Erythematous with Lymphadenitis

Emily Wittenberg, Antonella Racano, Swetha Ramireddy, and Niluka Weerakoon

A 26 year old African American female presented with the chief complaint of persistent fever and a single painful axillary lymph node for two weeks. This is a unique case of systemic lupus erythematous (SLE) presenting with painful lymphadenitis. Moreover, the result of her lymph node biopsy was also unusual, showing histiocytic necrotizing lymphadenitis (HNL) presenting in SLE. She presented with a fever of 103 degrees Fahrenheit and a... Read More
Decoding Code Status: The Case of DNAR

Andrew Wong and Rachel Thiem

The introduction of cardiopulmonary resuscitation (CPR) in the 1960’s led the American Medical Association to recommend code status – indicating the preference for CPR – for each patient. Currently, all hospitals across the country review code status with patients at admission. A ‘do not attempt resuscitation’ (DNAR) code status means that a patient with decision making capacity has indicated that in the event of a cardiopulmonary arrest, they do... Read More
Perianal Pigmented Variant of Dermatofibrosarcoma Protuberans

Andrew Worden, Claire Sorek, Pridvi Kandagatla, Daniel Yoho, Ann Woodward, and Jason Pimentel

Dermatofibrosarcoma protuberans (DFSP) is a low-to-intermediate grade cutaneous sarcoma with reported at 3 per 1,000,000 individuals. It is a locally aggressive tumor which originates in the dermis and invades deeper structures. Up to 90% of cases of DFSP are associated with a translocation between chromosomes 17 and 22. These tumors have a high risk of local recurrence but very rarely exhibit metastatic spread. Several histologic variants exist, including fibrosarcomatous... Read More
Osteochondral Autograft Used to Treat Avascular Necrosis of Metacarpal Head

Heather Wortham, Cameron King, and Michael N. Scott

Avascular necrosis of the metacarpal head is a rare condition, documented in less than 50 patients since 1932 when it was first described (2). The disease most commonly associated with steroid use, trauma, autoimmune disease, or idiopathic, which characterizes Dieterich’s disease (3). The patient generally presents with MCP joint stiffness and pain, with possible loss of active range of motion. As the disease advances, the subchondral bone can collapse... Read More