"An unprecedented occurrence: a case report of pulmonary hypertension manifestation in Donohue syndrome".

INTRODUCTION: Donohue syndrome (DS), also referred to as leprechaunism, is a remarkably uncommon autosomal recessive disorder that primarily affects the endocrine system. Its incidence rate is exceedingly low, with only 1 case reported per 4 million live births. The syndrome is distinguished by a series of characteristic clinical features. CASE PRESENTATION: We present a case of a twenty-month-old male with DS who experienced a range of dysmorphic and clinical features with the involvement of multiple systems. These features include skin hyperpigmentation, hypertrichosis, distinct facial features, abdominal distension, and microcephaly, with the involvement of the endocrine, renal, respiratory, and cardiac systems. CONCLUSION: The primary features of DS involve severe insulin resistance and growth abnormalities, the association with pulmonary hypertension (PHTN) has not been reported before. This finding adds more complexity to the condition. To the best of the author's knowledge, this is the first report for a patient with DS who has PHTN. Further investigation is required since the mechanisms behind the development of PHTN in DS are not entirely understood. Shedding light on this association will contribute to better management strategies and outcomes for affected patients.

Ectopic Cushing Syndrome in Adenocarcinoma of the Lung: Case Report and Literature Review.

Paraneoplastic syndromes are rare disorders that occur with many types of tumors. Ectopic cushing syndrome (ECS) is the second most common paraneoplastic syndrome that is only seen in 1-5% of all small cell lung cancers (SCLC), with limited papers reporting this syndrome since it was first described by Brown in 1928 or in carcinoid tumors. It is also found to be associated to a lesser extent with pheochromocytoma, thymic tumors, pancreatic carcinoma, and anaplastic thyroid carcinoma. While lung adenocarcinoma is the most common histological type of lung neoplasms, it is seldom associated with Cushing syndrome. In this article, we describe a patient who initially presented with Cushing syndrome and found to have adenocarcinoma of the lung.

Steroid-Induced Pancreatitis: A Challenging Diagnosis.

Drug-induced pancreatitis is uncommon among all cases of acute pancreatitis in the general population. The majority of reported cases are mild, but severe and even fatal cases have been also reported. Management of corticosteroid-induced acute pancreatitis requires withdrawal of the offending agent and supportive care. Our case describes a young patient, who was recently diagnosed with idiopathic immune purpura and was treated with steroids. Few days later, he returned to the hospital complaining of epigastric pain with nausea and vomiting and was diagnosed with steroid-induced pancreatitis after exclusion of other causes of pancreatitis.

Rare but Fatal Case of Cavitary Pneumonia Caused by Alcaligenes Faecalis.

Alcaligenes faecalis is a gram-negative bacterium that is commonly found in the environment. This pathogen is usually transmitted in the form of droplets through ventilation equipment and nebulizers, but transmission through direct contact has also been documented in few case reports. This pathogen can cause rare but fatal infections including appendicitis, abscesses, meningitis, bloodstream infection, endocarditis, and post-operative endophthalmitis. Pan drug resistance to all commercially available antibiotics has been emerging globally. We present the case of a 66-year-old male who had respiratory failure along with multiple comorbidities. A large cavitary lesion caused by pan drug-resistant Alcaligenes faecalis was found on chest imaging. Despite the treatment with broad-spectrum antibiotics, the clinical outcome was very poor.

Major Thrombotic Event Despite Anticoagulation in a Patient With COVID-19.

The outbreak of coronavirus disease 2019 (known as COVID-19), which started in Wuhan, China in December 2019, is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). It has been associated with both venous and arterial thromboembolism likely secondary to significant cytokine activation and inflammation. Reports on the incidence of thrombotic complications, however, are not well documented. Our case will examine a young man diagnosed with COVID-19 who developed an acute, severe bilateral saddle pulmonary embolism while on prophylactic dose anticoagulation after being admitted to the hospital and treated for two weeks with significant improvement.

A Rare but Reversible Cause of Lithium-Induced Bradycardia.

Lithium is a well-known medication that has been used for many years to treat mood disorders. One of its side effects is cardiotoxicity, which usually occurs at serum lithium levels > 1.5 mEq/L but rarely occurs when therapeutic levels of lithium are used. Other causes of bradycardia should be eliminated by performing a detailed workup that includes calcium level, thyroid function, and cardiac workup, with consideration of any medication interactions. Lithium-induced bradycardia is reversible upon discontinuation of lithium, but irreversible sinus node can occur and may warrant permanent insertion of a pacemaker to maintain sinus rhythm when long-term lithium therapy is required. Herein, we describe the case of a 42-year-old woman who presented with symptomatic bradycardia. Bipolar disorder was described in her past medical history, and she was receiving lithium therapy. A detailed workup indicated bradycardia secondary to lithium use. Her condition improved after discontinuation of the lithium, and normal sinus rhythm was restored over the next three days.

Hypercalcemia in a Patient Diagnosed with a Vasoactive Intestinal Peptide Tumor.

Hypercalcemia is a clinical problem that is commonly seen in both the inpatient and outpatient settings. Overall, most common causes of hypercalcemia include hyperparathyroidism and malignancy. Our case report is the presentation of hypercalcemia in a patient eventually diagnosed with a vasoactive intestinal peptide tumor, a type of neuroendocrine tumor, without associated hyperparathyroidism.

Facial Swelling and Shortness of Breath Are Not Always an Allergic Reaction: It Could Be Acute Superior Vena Cava Syndrome.

Historically, it has been found that malignancy is associated with superior vena cava (SVC) syndrome. The past decade has seen more cases of thrombogenic and stenotic SVC syndrome due to increased use of pacemakers and indwelling central lines. As compared to the slowly progressing obstruction in malignancy, rapid thrombogenesis rate and a lack of venous collateral sequelae lead to more acute sequelae in these patients. It is important to timely assess patients presented with an acute process of SVC syndrome in the emergency room. Diagnosis can quickly be made by using computed tomography angiography (CTA) or magnetic resonance angiography (MRA) modalities. The underlying cause of the syndrome is the focus of the treatment. Anticoagulation is the basis of the treatment in the case of thrombogenic catheter-associated SVC syndrome. In order to promptly manage symptoms, it was observed that balloon angioplasty with stenting and thrombolytics proved to be beneficial. Herein we are describing a 68-year-old female with past medical history of colon cancer with liver metastasis on chemotherapy via port, presented to the emergency room with acute shortness of breath and facial and neck swelling, and was found to have acute superior vena cava syndrome.

Coronary Vasospasm-Induced Myocardial Infarction: An Uncommon Presentation of Unrecognized Hyperthyroidism.

Hyperthyroidism can present with cardiac issues, such as tachycardia, atrial fibrillation, and high output congestive heart failure. Rare case reports of coronary vasospasm leading to myocardial infarction (MI) are published. Of these cases, many are known to be hyperthyroid prior to cardiac presentation. We report a female patient with unrecognized thyrotoxicosis who presents with acute MI secondary to coronary vasospasm.

An Unusual Presentation of Insulinoma: Confusion With Psychiatric Symptoms.

Insulinoma is a rare but common functional neuroendocrine tumor that secretes an excess amount of insulin resulting in mostly fasting hypoglycemia but can also cause postprandial hypoglycemia. It usually presents with neuroglycopenic and autonomic sympathetic symptoms that resolve following the administration of dextrose. The patients may remain symptomatic from 1 week to as long as several decades before diagnosis. Insulinoma presenting with psychiatric symptoms has been documented in case/case series reports. Laboratory findings of elevated insulin and C-peptide level in the presence of hypoglycemia and absence of plasma sulfonylurea are suggestive of the diagnosis. Localization of the tumor is essential preoperatively. Surgery usually cures most of the patients, but a minority will have a recurrence especially with malignant insulinoma. The manuscript presents a case of insulinoma presenting with psychiatric symptoms without sympathetic symptoms that led to the delay of the diagnosis for 3 months as initially thought to be related to psychiatric problems. Pancreatic insulinoma was localized by computed tomography (CT) scan and confirmed with endoscopic ultrasound (EUS). The patient underwent successful resection of the tumor, and her symptoms were completely resolved.

Rare Anaphylactic Reaction to Acamprosate in a Young Alcoholic.

Alcoholism is a worldwide health issue that affects people from all walks of life. Effective alcohol abuse treatment programs, which combine cognitive behavioral therapy with medications, are necessary to provide the appropriate care that patients need. Treatment options include Naltrexone, Acamprosate, or Disulfiram. Due to poor compliance, Disulfiram is used as a second line agent. These medications play an integral role in treating alcohol abuse. Healthcare providers must be aware of their side effect profiles. This includes a rare and fatal anaphylactic reaction to Acamprosate which is not well documented in the current literature.