Endogenous Cushing syndrome is a metabolic syndrome that results from the excessive production of cortisol from the adrenal gland. Hypercortisolism can result in serious complications, such as hypertension, myocardial ischemia, glucose intolerance, immunosuppression, and electrolyte disturbances. The mainstay of treatment is surgical resection for resectable tumors, along with pharmacological therapy in selected cases, because severe hypercortisolism often requires prompt medical stabilization before definitive surgical management can be safely performed. We report a 34-year-old male patient who presented with generalized weakness, peripheral numbness, and palpitations and was found to have severe hypokalemia, metabolic alkalosis, and high levels of cortisol. Diagnostic laboratory tests showed adrenocorticotropic hormone (ACTH)-independent Cushing syndrome, which was confirmed with magnetic resonance imaging (MRI) and positron emission tomography (PET) imaging. Etomidate was used to control hypercortisolism preoperatively as a bridge to definitive surgical resection of right adrenal adenocarcinoma after failure of a course of mitotane therapy. Sub-anesthetic doses of etomidate dramatically lowered cortisol levels, reduced the need for potassium replacement, and controlled blood pressure with fewer side effects.

Atopic dermatitis (AD) is a chronic inflammatory skin condition characterized by pruritic, scaly, erythematous lesions, xerosis, and lichenification. Dupilumab, a monoclonal antibody targeting I- (IL)-4 and IL-13 signaling, is widely used to treat moderate to severe AD. We report a 22 year-old male with a history of asthma and chronic childhood AD who was started on dupilumab 300 mg every 2 weeks after multiple relapses despite topical therapy. Baseline Eczema Area and Severity Index (EASI), Dermatology Life Quality Index (DLQI), and Physician Global Assessment (PGA) scores were not recorded; however, the patient showed marked clinical improvement of his skin disease, with a posttreatment EASI score of 1. Five months after dupilumab initiation, he presented with palpitations and pleuritic chest pain. His absolute eosinophil count was 2070 cells/μL, increased from a pretreatment baseline of 860 cells/μL, with an elevated Troponin I of 1.56 ng/mL. Electrocardiography showed normal sinus rhythm. Cardiac magnetic resonance demonstrated myocardial edema, early gadolinium enhancement, and late gadolinium enhancement involving the interventricular septum and adjacent walls, confirming myocarditis. A comprehensive workup, including antinuclear antibody, antineutrophil cytoplasmic antibody, renal function, a respiratory viral PCR panel, stool ova and parasites, and whole exome sequencing, excluded autoimmune, infectious, and familial causes. Computed tomography of the sinuses demonstrated moderate rhinosinusitis without invasive features. A diagnosis of eosinophilic myocarditis secondary to dupilumab-associated hypereosinophilia was made. Dupilumab was discontinued, and the patient was treated with corticosteroids and colchicine, with resolution of eosinophilia and symptoms. Although dupilumab-associated eosinophilia is usually mild and transient, this case highlights the importance of maintaining a high index of suspicion for rare but serious organ involvement, particularly in patients with new cardiopulmonary symptoms or baseline eosinophilia, while recognizing that routine eosinophil monitoring is not currently recommended for all patients receiving dupilumab.

Ambrisentan is an endothelin receptor antagonist broadly used for the treatment of pulmonary arterial hypertension. However, multiple adverse events (AEs) were reported with its use, and we intended to evaluate potential ambrisentan-associated AE signals through the US Food and Drug Administration Adverse Event Reporting System. Reports from March 2019 to December 2022 were selected for disproportionality analysis. Four signal detection methods were applied, namely the reporting odds ratio, the proportional reporting ratio, the information component, and the empirical Bayes geometric mean, to assess ambrisentan-associated AE signals. Ambrisentan was identified as a suspected drug in 30,060 reports. AEs associated with ambrisentan covered 8 system organ classes and showed potential signals at the preferred-term level, such as peripheral edema and dyspnea, as well as cardiac AE signals including palpitations and cardiac failure. The median time to onset of ambrisentan-associated AEs was 240 days, and approximately half (49.66%) of the AEs with documented time to onset occurred after 1 year of use. Our research identifies potential safety signals of cardiac AEs associated with ambrisentan use. These signals are hypothesis-generating and warrant confirmation in prospective studies, as well as continued pharmacovigilance monitoring.

Myoferlin (encoded by MYOF) is a highly expressed protein in myoblasts and endothelial cells; mutations in MYOF are linked to malignancies, skeletal and cardiac myopathy, and hereditary angioedema with normal C1-inhibitor (HAE-nl-C1-INH). We present a 31- year-old female with recurrent severe abdominal angioedema attacks since late childhood. Mucocutaneous angioedema attacks began in early adolescence, triggered by stress and mechanical stimuli, and hormonal changes, often proceded bya fatigue or chest discomfort. Assessment of C1INH level and function had not shown any deficiency C1-INH protein level and function. Because C1-INH protein level and function were normal, whole exome sequencing (WES) was performed, identifying a novel heterozygous missense mutation in MYOF. Family screening revealed the same mutation in her mother and brother. Her angioedema symptomswere partially controlled using daily tranexamic acid and weekly anti-androgenic agents, with fresh frozen plasma or Berinert reserved for severe attacks. Over the past two years, she developed slowly progressive weakness in her facial, proximal, and distal extremity muscles, causing fatigue, bilateral ptosis, and difficulty climbing stairs or rising from a chair. Neurological examination, EMG-NCV studies, and elevated serum creatine kinase (CK) and lactate dehydrogenase (LDH) levels confirmed reduced muscle strength and generalized myopathy. Additionally, she experienced palpitations and unprovoked sinus tachycardia, likely reflecting cardymyopathy secondary to myoferlin deficiency.

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder frequently accompanied by epilepsy and TSC-associated neuropsychiatric disorders. Psychiatric-predominant seizure presentations may, however, delay recognition. This clinical challenge describes a 26-year-old woman with recurrent panic-like episodes characterized by dyspnea, choking sensations, palpitations, and derealization, followed by depressive symptoms. The episodes persisted despite treatment with selective serotonin reuptake inhibitors and benzodiazepines. Further examination revealed hypomelanotic macules, prompting neurologic and systemic evaluation. Brain imaging demonstrated findings consistent with cortical tubers and subependymal nodules, while video electroencephalography captured frequent focal seizures without impaired awareness arising from the left frontotemporal region. Positron emission tomography/computed tomography identified a corresponding frontal abnormality. Although genetic testing detected a nonclassical TSC1 variant, the TSC diagnosis was established on clinical grounds. Treatment with lacosamide eliminated detectable epileptiform activity and substantially reduced the frequency and severity of her panic-like episodes; depressive and anxiety symptoms also improved with combined lacosamide and duloxetine treatment. This case illustrates how focal seizures involving frontal, temporal, and limbic-autonomic networks may mimic primary panic disorder. Stereotyped, brief, recurrent, and treatment-refractory psychiatric episodes-particularly when accompanied by neurocutaneous findings-should prompt electroencephalography and brain imaging. The case also emphasizes that an uninformative or uncertain genetic result does not exclude clinically established TSC or alter recommended surveillance and multidisciplinary management.