Unveiling the Chameleon: A Case Report on Acute Intermittent Porphyria.

Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disorder with low penetrance, often presenting with a broad spectrum of clinical manifestations. Acute neurovisceral attacks commonly occur in young women, mimicking signs and symptoms of other medical and psychiatric conditions, thus delaying the diagnosis. We present the case of an 18-year-old female college student with recurrent hospitalizations for intractable abdominal pain, now again with pain and new subjective hematuria. The patient had previously undergone an endoscopy/colonoscopy with negative biopsies and serologies for acute pathology, including celiac disease. Celiac studies were repeated, given the possibility of inadvertent gluten exposure before the onset of the latest symptoms, but were negative. Basic labs and repeat imaging, including contrast-enhanced CT, MRI, and magnetic resonance (MR) enterography of the abdomen, continued to be unremarkable, and the patient's symptoms were felt to be functional in etiology. The patient's urinalysis was normal, and pregnancy was also ruled out. The patient continued to have pain despite receiving opiate analgesics, thus prompting a psychiatry consultation. She was diagnosed with acute adjustment disorder with anxiety and was started on hydroxyzine. Due to persistent symptoms, serum and urine samples were sent, revealing low levels of porphobilinogen deaminase (PBGD) and hydroxymethylbilane synthase (HMBS) gene mutation, confirming the diagnosis of AIP. She was treated with oral glucose and outpatient IV hemin infusions with the resolution of symptoms. AIP presents a nonspecific and highly variable clinical picture, often making it a challenging diagnosis due to such a broad differential. While our patient was thought to have acute adjustment disorder due to an unremarkable initial workup, further testing revealed otherwise. This case demonstrates how clinicians must have a high suspicion of AIP when caring for young females, manifesting with neurovisceral and psychiatric signs and symptoms. Timely diagnosis improves a patient's quality of life and can decrease overutilization of healthcare resources.

Symptomatic Meckel's Diverticulum Presenting As Recurrent Gastrointestinal Bleeding in an Adult.

A 51-year-old male presented to the hospital with recurrent gastrointestinal bleeding. Prior work up with an esophagogastroduodenoscopy (EGD), colonoscopy, and video capsule endoscopy failed to reveal a bleeding source. Given a history of a terminal ileum diverticulum noted on previous colonoscopy and persistence of hematochezia, a Meckel's scan was performed, which revealed abnormal uptake suspicious for a Meckel's diverticulum containing ectopic gastric mucosa. After surgical resection, pathology confirmed a Meckel's diverticulum with gastric heterotopia. This case highlights the importance of considering Meckel's diverticulum for instances of recurrent gastrointestinal bleeding, especially in patients who are still symptomatic despite an extensive workup. Moreover, it is important to note that a Meckel's diverticulum can be missed on video capsule endoscopy.

Alcoholic Hepatitis Mimicking Iron Overload Disorders With Hyperferritinemia and Severely Elevated Transferrin Saturation: A Case Report.

Iron overload disorders can present as non-specific symptoms and develop gradually but, if untreated, can be very fatal. The common causes include multiple blood transfusions for chronic anemia and increased iron absorption, including hereditary hemochromatosis (HH). HH is one of the common causes of iron overload disorders and usually presents with liver cirrhosis in a setting of significantly elevated ferritin and elevated transferrin saturation. Alcoholic hepatitis is a clinical syndrome of progressive inflammatory liver injury associated with long-term heavy intake of ethanol. However, in patients with alcohol abuse, excessive alcohol consumption can disrupt iron metabolism releasing large amounts of iron into circulation. This can cause severely elevated ferritin due to disruption of iron metabolism, simulating iron overload disorders such as HH, especially if the patient also has liver cirrhosis. Even though a high transferrin saturation of greater than 45% is recommended as a cutoff transferrin value as high sensitivity for detecting iron overload disorders, it has a low specificity and positive predictive value and often identifies people with other causes of acutely elevated ferritin levels such as alcohol liver disease and hepatitis. Recognizing this feature and timely management can spare the patient from unnecessary phlebotomies and prompt treatment for alcoholic hepatitis. We present an interesting case of severe alcoholic hepatitis mimicking HH with severely elevated ferritin levels and transferrin saturation with underlying liver cirrhosis.

Immune Checkpoint Inhibitor-Induced Lymphocytic Esophagitis.

Immune checkpoint inhibitors (ICIs) have emerged as effective treatments for a wide variety of advanced malignancies. However, their use is associated with numerous immune-related toxicities, including within the gastrointestinal tract. We present a rare case of checkpoint inhibitor-induced lymphocytic esophagitis. A 79-year-old male with a past medical history significant for metastatic renal clear cell carcinoma on nivolumab presented to the hospital with dysphagia and symptomatic choledocholithiasis. The patient underwent endoscopic retrograde cholangiopancreatography (ERCP) for the extraction of stones and esophagogastroduodenoscopy (EGD) for dysphagia, which showed esophagitis. Biopsies revealed lymphocytic infiltration of the epithelium, dyskeratotic keratinocytes, and acanthosis, raising suspicion for nivolumab-associated lymphocytic esophagitis. Treatment includes proton pump inhibitors and steroids; however, efficacy is not well described due to the rarity of the condition.

A Case Report of Aerococcus urinae Urinary Tract Infection in an Elderly Male with Multimorbidity.

Aerococcus urinae is a rare cause of urinary tract infection (UTI) seen in elderly males with multimorbidity. Incidence is estimated between 0.15 and 0.8%. This organism is frequently misidentified for other gram-positive species. Missed or delayed diagnosis of A. urinae UTI can lead to systemic infection with high morbidity and potential mortality. We present a classic case of A. urinae UTI in a 91-year-old male with multiple comorbidities, including heart failure, diabetes mellitus, and metastatic prostate carcinoma. Empiric therapy with nitrofurantoin was unsuccessful, but intravenous ceftriaxone and bladder catheterization resulted in rapid symptomatic improvement. Variable antimicrobial sensitivities and resistance have been reported for A. urinae. Therefore, antimicrobial resistance testing should be performed for all patients with A. urinae infections.

A Rare Case of Leptomeningeal Carcinomatosis Secondary to Metastatic Non-Small Cell Lung Carcinoma.

Leptomeningeal carcinomatosis is a rare complication of metastatic systemic malignancy, with lung cancer being the most common cause. We present a case of a 75-year-old man with a past medical history of right non-small cell lung carcinoma and ischemic stroke who presented with a persistent headache and swallowing difficulties. On evaluation, the patient was initially diagnosed with a subacute infarct of the right posterior frontal lobe following magnetic resonance imaging (MRI). The patient's headache and dysphagia worsened, increasing the possibility of brain metastasis. The patient underwent cerebrospinal fluid analysis including cytology and multiple MRI studies with no obvious explanation for the symptoms. The patient eventually developed multiple cranial nerve palsies, and a diagnosis of leptomeningeal carcinomatosis was made with neuroradiology consultation for the MRI.