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Uncommon Mimics the Rare: Lipid Versus Paraproteinemic Keratopathy in a Patient With Smoldering Multiple Myeloma | Annals of Internal Medicine: Clinical Cases

A 69-year-old man with smoldering IgA lambda multiple myeloma developed progressive bilateral peripheral corneal opacities initially concerning for paraproteinemic keratopathy (PK). Despite recommendations for systemic therapy, histopathologic analysis of corneal tissue obtained during penetrating keratoplasty (PKP) demonstrated lipid-laden stromal deposits without immunoglobulin staining, confirming lipid keratopathy (LK). This case illustrates the diagnostic challenge of distinguishing LK from PK in patients with monoclonal gammopathies and emphasizes the need for histopathologic confirmation before initiating systemic therapy. Accurate differentiation can prevent unnecessary treatment and guide appropriate management of corneal deposition disorders associated with plasma cell dyscrasias.

Cryptococcal Meningoencephalitis in an HIV-Negative Host Infected With COVID-19: A Case Report | Annals of Internal Medicine: Clinical Cases

We report a rare case of cryptococcal infection in an immunocompetent adult who initially presented with altered sensorium and acute COVID-19 infection. The suspected diagnosis was encephalopathy due to pneumonia; however, the patient developed new neurologic deficits, warranting further investigation, which revealed cryptococcal meningoencephalitis. HIV testing was negative, but CD4 lymphocytopenia was seen, which resolved after treatment for both COVID-19 and cryptococcal meningoencephalitis. This case illustrates the importance of considering uncommon scenarios in which an opportunistic infection such as cryptococcal meningoencephalitis may present. It also demonstrates the need to frequently consider alternative diagnoses, particularly in the pandemic era.

Recurrent Cryptogenic Stroke in a Young Woman: Congenital Thrombotic Thrombocytopenic Purpura Unmasked | Annals of Internal Medicine: Clinical Cases

Cryptogenic stroke of undetermined cause should warrant an exhaustive neurologic and cardiovascular workup. If no cause is identified, additional investigations should be individualized on the basis of clinical history and objective findings. Herein, we present the case of a young patient with a personal and family history of cryptogenic stroke who was investigated for thrombophilia. Transient thrombocytopenia and peripheral blood schistocytes led to an eventual diagnosis of congenital thrombotic thrombocytopenic purpura, which is characterized by vaso-occlusive end-organ complications. The diagnosis is confirmed by undetectable ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs, member 13) activity.

Comorbid Abetalipoproteinemia and Neurofibromatosis Type 1: Potential Clinical Implications of an Ultrarare Co-occurrence | Annals of Internal Medicine: Clinical Cases

Abetalipoproteinemia (ABL) affects fewer than 1 per 1 million people, whereas neurofibromatosis type 1 (NF1) occurs in approximately 1 in 3000 to 4000 individuals. We describe the clinical findings in a 38-year-old woman with both disorders. ABL was diagnosed in the neonatal period, followed by NF1 at age 7 years based on multiple café-au-lait spots, intertriginous freckling, and Lisch nodules. Genetic testing revealed a homozygous pathogenic MTTP frameshift variant [c.215del (p.Pro72Leufs*8)] and a heterozygous pathogenic NF1 splice variant [c.205-2A>C]. To our knowledge, this co-occurrence has not been previously reported. The estimated likelihood of the co-occurrence is approximately 1 in 3 billion individuals.

Dermatitis Neglecta: A Case Report of Hyperpigmentation Resulting From Impaired Mechanical Cleansing | Annals of Internal Medicine: Clinical Cases

Dermatitis neglecta (DN) results from inadequate frictional cleansing and is often associated with psychiatric or neurologic impairments. It is frequently misdiagnosed owing to its rarity and variable presentation. We report a 71-year-old woman with extensive hyperpigmented plaques from the mid-back to posterior thighs. Initially suspected to be tinea corporis, the primary lesion did not fluoresce on Wood's lamp examination. Mechanical cleansing with soap, water, and alcohol swabbing removed the pigmentation, confirming DN. This case emphasizes the importance of recognizing DN, particularly in patients with functional limitations, to avoid unnecessary testing and ensure effective management.

An Unusual Case of Hyperosmolar Hyperglycemic State Complicated by Bilateral Occipital Lobe Seizures | Annals of Internal Medicine: Clinical Cases

Hyperosmolar hyperglycemic state (HHS) is a complication of type 2 diabetes mellitus (T2DM) marked by hyperglycemia without acidosis. We present a case of a 59-year-old woman with a history of T2DM and migraines who presented with worsening occipital headaches accompanied by visual disturbances. Her glucose level on arrival was 559 mg/dL with a normal anion gap. Magnetic resonance imaging revealed cortical restricted diffusion in the left occipital lobe. An electroencephalogram detected electroclinical focal seizures in the bi-posterior region. This case highlights the importance of both recognizing seizures in HHS and the need to consider alternative diabetes diagnoses for patients with atypical diabetic phenotypes.

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.

Emerging Threat: A Case of Neuroinvasive Powassan Virus Infection | Annals of Internal Medicine: Clinical Cases

Powassan virus (POWV) infection is a tickborne illness that may cause neuroinvasive disease with high morbidity and mortality. The incidence of this disease is increasing in the United States. We present a confirmed case of neuroinvasive POWV infection acquired in December 2023. This case illustrates the need for increased awareness of neuroinvasive POWV infection owing to severity of illness and rising incidence. Climate change and tick expansion are likely major contributors to the evolving seasonality and increasing incidence of POWV infection. Early testing may minimize unnecessary antimicrobials and diagnostic studies.

Leptomeningeal Immunoglobulin G4–Related Disease: A Case Report | Annals of Internal Medicine: Clinical Cases

We present the case of an older man with history of rheumatoid arthritis, taking etanercept who developed focal neurologic deficits with imaging findings that raised concern for central nervous system neoplasia, as well as a nondiagnostic initial brain biopsy. Imaging showed left hemispheric leptomeningeal enhancement, as well as left frontal convexity rim-enhancing collections, suspicious for abscess. Empiric antibiotics did not improve the patient's condition, and a second central nervous system biopsy revealed a diagnosis of leptomeningeal immunoglobulin G4–related disease, a rare fibroinflammatory condition. Awareness of this condition, prompt diagnosis, and treatment are imperative to prevent irreversible organ damage, disability, and potentially death.

Posterior Reversible Encephalopathy Syndrome in an Older Patient in the COVID-19 and Paxlovid Era | Annals of Internal Medicine: Clinical Cases

Nirmatrelvir/ritonavir (Paxlovid) has been prescribed increasingly for treatment of COVID-19. Due to ritonavir's inhibition of CYP3A4, there are many medication interactions to consider. In this case, a 63-year-old woman recently treated with Paxlovid presented with symptoms mimicking previous episodes of lupus cerebritis. Imaging, however, revealed a pattern more consistent with posterior reversible encephalopathy syndrome. When Paxlovid therapy was initiated in the ambulatory setting, her amlodipine dose was decreased due to concern for interactions. Since Paxlovid is recommended for patients with high risk for progression to severe illness, this poses a unique challenge, especially in older patients with multiple comorbid conditions.

Sorry, no results were found for "im_matters_articles" in ACP Gastroenterology Monthly.