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Displaying 11 - 20 of 430 in Annals of Internal Medicine
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Displaying 11 - 20 of 20 in Annals of Internal Medicine: Clinical Cases
Syphilitic Meningoencephalitis Presenting as Status Epilepticus in a Patient With HIV | Annals of Internal Medicine: Clinical Cases
Neurosyphilis constitutes a heterogenous clinical presentation that, in rare cases, can include seizures. The immunosuppression caused by HIV may influence the clinical presentation of syphilis, leading to severe complications. We report a case of a 27-year-old man who presented with status epilepticus as a manifestation of syphilitic meningoencephalitis and a new diagnosis of HIV.
Neurologic Manifestations of Germline GATA2 Deficiency: A Report of Two Cases | Annals of Internal Medicine: Clinical Cases
Germline pathogenic mutations in the GATA2 gene, a critical transcription factor in hematopoietic and neurologic development, are known to cause various syndromes characterized by both hematopoietic (for example, monocytopenia, myelodysplastic syndrome) and extra-hematopoietic (for example, lymphedema, atypical and mycobacterial infections) manifestations. Neurologic features of this disease need to be better understood. We describe 2 patients with germline GATA2 deficiency who developed a progressive neurologic illness characterized by upper motor neuron weakness, bulbar and cerebellar dysfunction, pronounced white matter magnetic resonance imaging abnormalities, and noninfectious leukoencephalopathy with cerebellar degeneration. These neurologic findings may be a novel extra-hematopoietic manifestation of germline GATA2 deficiency.
Weakness and Paraparesis: A Common Presentation of the Rare Retrovirus HTLV | Annals of Internal Medicine: Clinical Cases
Limited knowledge exists about human T-lymphotropic virus and its many subtypes, various clinical presentations, devastating sequelae, and potential treatment options. In this case, a 62-year-old woman of Haitian descent presented with a constellation of generalized neurologic symptoms that progressed during an 8-month period and left her bedridden. Although no substantial treatment or cure currently exists, prompt diagnosis of human T-lymphotropic virus is crucial to initiate administration of steroids to both decrease the likelihood of clinical sequelae and help slow the progression of the disease.
An Atypical Presentation of Progressive Multifocal Leukoencephalopathy With Newly Diagnosed HIV Infection | Annals of Internal Medicine: Clinical Cases
Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating infectious disease of the central nervous system that typically presents in immunosuppressed patients with history of AIDS, hematologic malignancies, or immunosuppressant drug treatment. We report a case that highlights the importance of differentiating PML from acute/chronic ischemic stroke. Distinction is made between acute ischemic stroke and demyelinating disease with the T2-gradient recalled-echo weighted imaging. Failure to test for HIV in patients with suspected chronic ischemic stroke can lead to increased morbidity, decreased highly active antiretroviral therapy efficacy, and poorer patient outcomes. Clinicians should strongly consider PML in immunocompromised patients with frequent, progressive neurologic symptoms.
A Puzzling Case of Rapidly Progressive Global CNS Deterioration From Intravascular Large-Cell Lymphoma | Annals of Internal Medicine: Clinical Cases
Intravascular large-cell lymphoma is a rare, aggressive subtype of B-cell lymphoma leading to microvascular organ dysfunction. It often presents nonspecifically and is difficult to diagnose, with a rapidly progressive course. It classically presents with “B” symptoms, although any organ system can be affected. Neurologic symptoms vary but can involve rapid neurologic deterioration. It lacks association with a primary tumor or malignant cells in the blood or bone marrow, so diagnosis is difficult, made only by biopsy of affected tissues. Because of its rarity and often aggressive course, increased clinician familiarity is key to facilitating early diagnosis and proper management.
First Manifestation of Adult-Onset Still Disease After COVID-19 Vaccination: Two Cases | Annals of Internal Medicine: Clinical Cases
Adult Still disease (ASD) is a rare autoinflammatory condition of unknown cause. Viral or bacterial infections can trigger the onset of ASD. We describe the clinical features, treatment, and follow-up of 2 patients with new-onset ASD following COVID-19 vector vaccination. Our cases emphasize the importance of early diagnosis and lend weight to an association between COVID-19 vector vaccination and new-onset ASD.
A Case of Maple Syrup Urine Disease Diagnosed in Adulthood | Annals of Internal Medicine: Clinical Cases
Classic maple syrup urine disease (MSUD) is typically diagnosed in newborns, whereas nonclassic forms may manifest at any age. We describe a 58-year-old man presenting with recurrent encephalopathy, found with a nonclassic form of MSUD. This patient case highlights the importance of considering inborn errors of metabolism in the differential diagnosis of adult patients presenting with neurologic symptoms of unclear cause.
Hemorrhagic Adrenal Mass: A Rare Presentation of Primary Adrenal Choriocarcinoma | Annals of Internal Medicine: Clinical Cases
Choriocarcinoma comprises less than 5% of all germ cell tumors in men, and primary extragonadal manifestation in the adrenal glands is a subset of that low percentage. Primary adrenal choriocarcinoma is a rare yet devastating diagnosis, with few cases reported in men. Delays in diagnosis can lead to increased morbidity and mortality given choriocarcinoma's aggressive growth; therefore, clinicians must recognize this clinical entity and consider it part of the differential diagnosis of a mass in the adrenals, lung, gastrointestinal tract, or brain, and expedite treatment if index of suspicion is high.
Postpartum Recurrent Mastitis Despite Resolution of Prior Prolactinoma | Annals of Internal Medicine: Clinical Cases
We present a 35-year-old woman with history of a prolactinoma who presented 11 weeks postpartum with recurrent mastitis. Per the patient, in the past she took cabergoline but stopped about 5 years previously. Despite attempts to wean, postpartum, she continued to express an excessive amount of breast milk. Magnetic resolution imaging revealed a slightly heterogeneous appearance of the pituitary gland, and she was started on dopaminergic agents. This case demonstrates that significant lactotroph hyperplasia can occur after breastfeeding ends despite the resolution of a prior prolactin-secreting microadenoma.
Abdominal Epilepsy as Sequelae of COVID-19 in a Patient With Granulomatosis and Polyangiitis | Annals of Internal Medicine: Clinical Cases
Abdominal epilepsy is characterized by chronic abdominal pain, and an epileptogenic focus in the temporal lobe is found in most patients. Here, we present a patient case of a 60-year-old woman hospitalized because of several episodes of epigastric pain preceded by visual and auditory hallucinations 1 month after having had COVID-19. The electroencephalogram obtained during an episode of pain showed temporo-occipital epileptiform activity. Infection by SARS-CoV-2 has been associated with neurologic disorders including epilepsy and, in this case, abdominal epilepsy.