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Displaying 11 - 20 of 459 in Annals of Internal Medicine
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Displaying 11 - 20 of 20 in Annals of Internal Medicine: Clinical Cases
Cerebral Fat Embolism in a Patient With Hemoglobin SC Disease Associated With Vaso-Occlusive Crisis and COVID-19 | Annals of Internal Medicine: Clinical Cases
Sickle cell disease is characterized by episodic vaso-occlusive events triggered by a combination of inflammation, increased adhesion to vascular endothelial cells, and activation of hemostasis. This vascular obstruction results in acute vaso-occlusive pain, stroke, and acute chest syndrome, which are more commonly observed when patients are admitted for acute vaso-occlusive crisis. Although fat embolism syndrome is most associated with orthopedic trauma, individuals with sickle cell hemoglobinopathy are at increased risk for nontrauma-related fat embolism syndrome. Here we describe a young woman with a history of hemoglobin SC disease who presented with fat embolism syndrome following a vaso-occlusive crisis precipitated by COVID-19 infection.
α-Gal Syndrome: Busting Paradigms in Food Allergy | Annals of Internal Medicine: Clinical Cases
α-Gal syndrome, also known as red or mammalian meat allergy, results from immunoglobulin E–mediated hypersensitivity responses to the carbohydrate galactose-α-1,3-galactose (α-gal). Patients with α-gal syndrome experience immediate onset of allergic symptoms following the injection of pharmaceutical products containing α-gal. However, it typically takes 2 hours or more after dietary α-gal ingestion before patients with α-gal syndrome experience immunoglobulin E–mediated hypersensitivity responses. The case report by Heffes-Doon and colleagues highlights the lack of official guidelines on when and how to reintroduce mammalian meat products into the diet when there is clear laboratory evidence of declining α-gal immunoglobulin E levels.
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.
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.
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.