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Granulomatosis with polyangiitis (GPA) is a multiorgan system disease process in which cutaneous involvement is not uncommon. However, this article reports a case of GPA that presented with an unusually destructive chronic cutaneous facial lesion without other characteristic organ changes to suggest GPA, which represented a unique diagnostic challenge. It highlights the importance of maintaining high suspicion for vasculitic disease processes and prompt diagnosis to reduce disease burden.

Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant | Annals of Internal Medicine: Clinical Cases

Roundabout guidance receptor 4 (ROBO4) germline variants [including c.695C>T (p.Thr232Met)] have been linked with bicuspid aortic valve and thoracic aortic aneurysm. However, the precise nature of ROBO4’s role in aortopathy is yet to be fully defined. We studied a 64-year-old woman with a history of surgically corrected congenital aortic coarctation in childhood, bicuspid aortic valve, and mild mitral regurgitation. She had genome sequencing, which revealed a heterozygous germline ROBO4 variant [c.695C>T (p.Thr232Met)]. Our findings suggest that the spectrum of aortic abnormalities that are associated with ROBO4 germline variants may include congenital coarctation of the aorta.

Platelets Disappear Overnight: A Case Report of Vancomycin-Induced Immune Thrombocytopenia | Annals of Internal Medicine: Clinical Cases

While vancomycin-induced thrombocytopenia (VITP) is typically characterized by gradual platelet decline and recovery, more rapid and severe reexposure presentations remain poorly described in the literature. This case describes a 70-year-old woman with no known history of vancomycin exposure or thrombocytopenia who presented for cellulitis, was treated with vancomycin, and experienced a 99% reduction in platelet count overnight, as well as a transient symptomatic reaction of rigors and hypotension. Herein, we aim to increase awareness of this rarer form of VITP by presenting this case and recounting the previously established literature on VITP as a whole.

Targetable Immune Dysregulation in a Patient With Heart Failure: Cardiovascular Manifestations of CTLA-4 Deficiency Improve With Evolocumab | Annals of Internal Medicine: Clinical Cases

We report the case of a 76-year-old man with germline CTLA-4 deficiency manifesting as multivessel coronary artery disease, heart failure with mid-range ejection fraction, and an aortic root aneurysm. New York Heart Association (NYHA) class 3 functional limitation was disproportionate to ischemic burden despite guideline-directed medical therapy. Statin intolerance prompted initiation of evolocumab, a PCSK9 inhibitor. Within 3 weeks, the patient's symptoms improved to NYHA class 1, suggesting a rapid immunomodulatory effect. This case illustrates targetable cardiomyopathy mediated by CTLA-4 deficiency, supports exploring PCSK9 inhibition for the management of immune-driven heart failure, and emphasizes genetic evaluation in unexplained cardiomyopathy.

Mad Honey Mimicking Acute Coronary Syndrome | Annals of Internal Medicine: Clinical Cases

A 56-year-old Nepalese man presented to the hospital with syncope, bradycardia, and hypotension. Throughout his admission, he was hemodynamically unstable, with associated electrocardiographic changes and fluctuations in consciousness. This followed the unintentional overdose of the traditional medicine “mad honey” containing grayanotoxins with hallucinogenic properties. Following treatment with an anticholinergic infusion, he made a full recovery within 48 hours. This case underlines the importance of considering atypical causes for presentations such as bradycardia and hypotension, especially in patients from cultures where mad honey usage is common, and highlights the potential adverse events of this traditional medicine to be life-threatening.

Beyond Uremia: Chronic Kidney Disease as a Cryptic Gateway for Opportunistic Neuroinvasion by John Cunningham Virus | Annals of Internal Medicine: Clinical Cases

Progressive multifocal leukoencephalopathy (PML), a devastating demyelinating central nervous system infection caused by John Cunningham virus (JCV) reactivation, typically occurs in profound immunosuppression. Chronic kidney disease (CKD) induces a state of “immunoparalysis” through uremic toxin-mediated T-cell dysfunction yet remains an underrecognized risk factor for PML. We present a 72-year-old man with end-stage renal disease who developed subacute expressive aphasia and confusion. Magnetic resonance imaging showed demyelinating white matter lesions, and cerebrospinal fluid confirmed JCV DNA, establishing PML. This case highlights CKD as a cryptic immunosuppressive state predisposing to PML and emphasizes the importance of considering PML in patients with CKD presenting with new, progressive neurologic deficits.

Renal Pelvic and Periureter Masses in Cutaneous and Systemic Plasmacytosis | Annals of Internal Medicine: Clinical Cases

We report a case of cutaneous and systemic plasmacytosis (CSP), with unusually large bilateral renal pelvic and periureteral masses, accompanied by severe renal dysfunction. A 53-year-old man with disseminated reddish-brown plaques developed progressive renal failure over 3 years. Laboratory tests revealed polyclonal hypergammaglobulinemia; imaging showed renal masses and lymphadenopathy. Skin and lymph node biopsies confirmed plasma cell infiltration. After excluding other differential diagnoses, the renal involvement was considered to share a common cause with other lesions, and CSP was diagnosed. Subsequent glucocorticoid therapy improved renal function, cutaneous lesions, and periaortic lymphadenopathy, highlighting its efficacy for CSP-related renal disease.

Renal Cell Carcinoma Metastasis to Esophagus 45 Years After Nephrectomy: A Case Report | Annals of Internal Medicine: Clinical Cases

Renal cell carcinoma (RCC) is a common malignancy, often discovered incidentally with abdominal imaging modalities. Metastasis of RCC to the esophagus is extremely rare. In this case, a patient presented with melena and dysphagia and was found to have an isolated metastasis of RCC in the proximal esophagus on endoscopy. He was previously treated for RCC 45 years ago, making this case the longest relapse of RCC documented in the literature to the best of our knowledge.

Chronic Q Fever Masquerading as Granulomatous Disease: A Diagnostic Challenge | Annals of Internal Medicine: Clinical Cases

Chronic Q fever, caused by Coxiella burnetii, can mimic sarcoidosis and cause diagnostic delays. We report a 45-year-old Iranian man with hypertrophic obstructive cardiomyopathy with implantable cardioverter defibrillator placement, found to have splenomegaly and thrombocytopenia, later developing fatigue, night sweats, weight loss, polyarthralgia, and persistent cytopenia. Lymphoma was initially suspected, but biopsies showed rare noncaseating granulomas. Sarcoidosis was considered. However, symptoms persisted despite corticosteroids. An infectious disease work-up confirmed chronic Q fever. This case underscores the need to include Q fever in the differential of unexplained granulomatous disease, particularly when atypical for sarcoidosis or refractory to immunosuppression.

Purulent Pericarditis With Tamponade: Nearly Fatal Infection in a Patient With Suspected Selective IgA Deficiency | Annals of Internal Medicine: Clinical Cases

Selective immunoglobulin A deficiency (SIgAD) is the most common primary antibody deficiency worldwide. Although it usually has a benign clinical course characterized by self-limited respiratory and gastrointestinal infections, in rare cases patients can develop severe or even life-threatening infections. We present the case of a 43-year-old man with pneumococcal pneumonia complicated by purulent pericarditis with tamponade physiology in the setting of suspected SIgAD. This case highlights a rare complication of community-acquired pneumonia and exemplifies the importance of maintaining a broad differential in all patients.

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