RESUMEN
The Heidenhain variant of Creutzfeld-Jakob disease (CJD) is a rare form that initially presents with visual disturbances. In early stages, the presentation can mimic neuromyelitis optica spectrum disorders (NMOSD) and lead to unnecessary treatment modalities. Herein, we describe a case of a 66-year-old man who presented with bilateral vision loss and retro-orbital discomfort. In addition to immunosuppressive therapy, he received 4 rounds of therapeutic plasma exchange after his preliminary diagnosis of NMOSD. We were surprised to note that his condition did not show improvement but deteriorated, with severe neurocognitive symptoms. Eventually, CJD was suspected, and real-time quaking-induced conversion (RT-QuIC) was performed. By the time the diagnosis of Heidenhain variant of CJD was confirmed, the patient was discharged to hospice care and died shortly after.
Asunto(s)
Síndrome de Creutzfeldt-Jakob , Neuromielitis Óptica , Humanos , Síndrome de Creutzfeldt-Jakob/diagnóstico , Neuromielitis Óptica/diagnóstico , Masculino , Anciano , Diagnóstico Diferencial , Resultado FatalRESUMEN
OBJECTIVES: We describe 3 cases of red blood cell (RBC) autoantibodies with unusual apparent antigenic specificity and discuss the testing methodology and implications of these findings. METHODS: All immunohematologic testing, including ABO and RhD typing, antibody detection and identification, RBC antigen phenotyping and genotyping, direct antiglobulin tests, and elution studies were performed using standardized and validated methods and reagents. RESULTS: Three patients were found to have autoantibodies, which were originally presumed to be alloantibodies. Case 1 was a 60-year-old man with autoanti-Jka following babesiosis; case 2 was a 79-year-old woman with an autoanti-f; and case 3 was a 28-year-old pregnant woman with an autoanti-S. Cases 1 and 2 required RBC transfusions, which were performed with Jka-negative and f-positive RBC units, respectively. No transfusion reactions were reported, and the hemoglobin responded appropriately in both cases. CONCLUSIONS: These 3 cases complement the minimal literature regarding warm autoantibodies with unusual antigenic specificity and their potential to mediate clinically significant hemolysis. There are only rare reports of warm autoantibodies with specificity for non-Rh antigens, and prior authors have suggested that autoantibodies with mimicking specificity are usually detected only serologically; in contrast, 2 of the 3 patients herein experienced autoimmune hemolytic anemia.
Asunto(s)
Anemia Hemolítica Autoinmune , Autoanticuerpos , Masculino , Femenino , Embarazo , Humanos , Anciano , Persona de Mediana Edad , Adulto , Isoanticuerpos , Epítopos , Eritrocitos , Anemia Hemolítica Autoinmune/diagnósticoRESUMEN
Guillain-Barré syndrome (GBS) is an immune-mediated polyradiculoneuropathy and the most common cause of acute flaccid paralysis worldwide. GBS classically presents with acute, progressive, ascending weakness, reduced to absent reflexes, and albuminocytological dissociation on cerebrospinal fluid (CSF) analysis. Botulism is a neurotoxin-mediated acute descending flaccid paralysis with cranial nerve palsies and dysautonomia. Botulism in adults is caused by ingestion/inhalation of botulinum toxin or wound infection with Clostridium botulinum. Both GBS and botulism can rapidly precipitate respiratory failure; thus, prompt diagnosis and treatment are crucial to mitigate poor outcomes. Herein, we describe a case of botulism initially diagnosed as GBS given classic laboratory features, and describe the importance of careful consideration of the most appropriate therapeutic modalities in cases of acute flaccid paralysis, particularly regarding empiric administration of botulinum antitoxin and use of intravenous immune globulin in lieu of plasma exchange for potential GBS to prevent removal of antitoxin.