Portal Vein Thrombosis in a Patient With Methylenetetrahydrofolate Reductase Gene Mutation and Normal Homocysteine Levels.

A 21-year-old male presented with chief complaints of abdominal pain, nausea, and vomiting and was found to have portal vein thrombosis (PVT) on computed tomography (CT) scan of the abdomen, which was redemonstrated on ultrasound. Thrombophilia workup was negative except that patient was heterozygous for methylenetetrahydrofolate reductase (MTHFR) gene mutation. Homocysteine levels were normal. The patient was started on enoxaparin and discharged on apixaban with the plan to continue anticoagulation for at least six months. Follow-up MRI after four months showed interval improvement of the main portal vein thrombus with the use of Eliquis.

Cutaneous Multiple Myeloma.

Multiple myeloma is a plasma cell dyscrasia characterized by abnormal bone marrow clonal plasma cells, histological confirmation of plasmacytoma, monoclonal protein in serum or urine, and evidence of end-organ damage. Organ involvement in multiple myeloma manifests as CRAB (hyperCalcemia, Renal insufficiency, Anemia, lytic Bone lesions). Cutaneous complications in multiple myeloma have been reported in many different phenotypes such as cryoglobulinemia rash, bruising, amyloid deposition, and squamous cell carcinoma. However, cutaneous metastasis of multiple myeloma is very rare with fewer than 100 cases described in the literature so far. Here, we present a case of biopsy-confirmed primary cutaneous multiple myeloma. Our case has other less common features of multiple myeloma such as renal amyloidosis and a coexisting malignant melanoma. This case report describes a unique presentation of multiple myeloma to understand the disease better.

Acute Severe Transaminitis as a Unique Presentation of Chronic Cholecystitis.

The hepatocellular function can be evaluated using aspartate aminotransferase (AST) and alanine aminotransferase (ALT) which are biochemical markers of the liver. Whenever there is an ischemic, toxic, or inflammatory injury to the liver, necrosis of the hepatocytes occurs and these biochemical markers are released into the circulation, showing an acute elevation in serum levels. In this case report, we discuss the unique clinical presentation of a female patient who came to the Emergency Room (ER) with acute onset chest pain with laboratory findings of elevated serum aminotransferases and cholestatic markers and was ultimately diagnosed with chronic cholecystitis. The usual clinical presentation associated with extremely elevated levels of liver enzymes can be one of three cases: acute viral hepatitis, toxin-induced liver injury, or acute ischemic insult to the liver. However, our patient was diagnosed with chronic cholecystitis despite her unique initial presentation of acute, severe transaminitis. While one may find elevated liver enzyme levels in acute cholecystitis, owing to the sudden nature of the inflammatory process, chronic cholecystitis is not known to cause high levels of serum amino transaminases or fulminant liver failure. Our case report indicates a diverse phenotype of chronic cholecystitis with an unusual presentation of acute, severe transaminitis. It helps expand the differential diagnoses of acute elevation of liver function tests (LFTs). Further studies are needed to explore the pathology behind chronic cholecystitis in order to understand its impact on liver damage.

Autoimmune atrophic gastritis in systemic sclerosis.

Systemic sclerosis (SSc) is a rare connective tissue disorder with a complex pathogenesis involving vascular dysfunction, small vessel proliferation as well as alterations of innate and adaptive immunity. Gastrointestinal (GI) involvement in SSc is almost universal and affects nearly 90% of the patients. Of all the GI manifestations, 30%-75% are oesophageal abnormalities, including gastro-oesophageal reflux disease, reflux oesophagitis and Barret's oesophagus. The incidence of gastric manifestations is about 22% with a common presentation of gastric antral vascular ectasia (GAVE). However, autoimmune atrophic gastritis (AIG) is not a known manifestation of SSc. Our case has a unique presentation of the coexistence of GAVE and AIG. We have conducted a thorough literature review to study a possible association of AIG and SSc and understand the pathology of SSc.

Flushing: A Diagnostic Dilemma.

Carcinoid tumors are uncommon tumors that are often diagnosed in later stages of the disease due to their indolent nature, vague clinical presentation and overlap of symptoms with other conditions. We report a case of rectosigmoid carcinoid tumor which was found incidentally on screening colonoscopy in an elderly woman that went undiagnosed for several years due to confounding effects of symptoms of post-hysterectomy menopause with that of carcinoid syndrome. Persistent episodic flushing with or without diarrhea not resolved with standard treatment should lead to suspicion of neuroendocrine tumors (NETs). This case report emphasizes the need to broaden our perspective of menopausal symptoms and pay attention to the characteristic clinical symptoms of NETs.

Disseminated Histoplasmosis in an Adult With Rheumatoid Arthritis Not on Biological Immune Modulators.

Histoplasmosis is a fungal disease caused by a dimorphic fungus known as Histoplasma capsulatum (H. capsulatum), which is endemic to areas around river valleys and southeastern states in the United States (US). Patients with histoplasmosis are asymptomatic, and the condition is usually diagnosed by an incidental finding of a pulmonary granuloma on a chest radiograph. In rare cases, this disease can develop into a progressive disseminated form and cause fatal and diffuse pulmonary infiltrates in immunocompromised adults. Moreover, there is a close association between disseminated histoplasmosis and the use of tumor necrosis factor (TNF) inhibitors in rheumatoid arthritis (RA). Our case report discusses a unique presentation of disseminated histoplasmosis in a patient with RA who was not on any biological immune modulators. The disseminated histoplasmosis in this case was progressive and involved the central nervous system, liver, lungs, and oral mucosa and was treated successfully with amphotericin therapy. We also discuss the disease process in detail and hypothesize that RA could be an independent risk factor for the increased incidence of disseminated histoplasmosis in adults. Based on the findings in this case report, we recommend screening for latent Histoplasma infections in adults with RA living in endemic areas and keeping a low threshold to evaluate flare-ups from this disease regardless of the use of anti-TNF inhibitors. Specific experimental and epidemiological studies can be conducted to examine the association between RA and similar indolent fungal infections.

Hashimoto's Encephalopathy: A Case Report and Literature Review of an Encephalopathy With Many Names.

We present the case of a male patient, initially treated for myxedema coma secondary to Hashimoto's thyroiditis, who was discharged on levothyroxine and a low-dose steroid taper but was re-admitted for the treatment of status epilepticus. During the second admission, the patient developed encephalopathy and cognitive dysfunction. Thyroid peroxidase (TPO) antibodies (Abs) were elevated and the patient was treated with high-dose steroids with clinical improvement. The patient was determined to have Hashimoto's encephalopathy (HE) due to the clinical picture as well as the response to high-dose glucocorticoid therapy. Cerebrospinal fluid (CSF) analysis demonstrated elevated protein, immunoglobulin G (IgG) index, and IgG synthesis rate; however, albumin index was elevated, indicating a disrupted blood-brain barrier. We suggest that HE be considered in the differential diagnosis for patients presenting with seizures, coma, stroke-like symptoms, behavior changes, and unexplained encephalopathy. After ruling out more common pathologies, HE should be considered by testing for anti-TPO Abs.