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Splenomegaly is manifested by a variety of etiologies, one of which is macrocytic anemia. Macrocytic anemia has multiple causes in itself that include; folate (Vitamin B9) and Cobalamin (vitamin B12) deficiencies. In this case report, we present a patient with a history of pancytopenia, macrocytic anemia and vitamin B12 deficiency, who underwent a splenectomy. The differential diagnoses for the cause of the patient's splenomegaly included: lymphoma, infiltrative disease, and idiopathic splenomegaly. The pathology report from the splenectomy did not reveal any evidence of lymphoma or infiltrative disease, however, it did mention vascular congestion of the spleen. In theory, vascular congestion, due to extramedullary hematopoiesis in the spleen or sequestration of blood cell lineages, could lead to pancytopenia. In prior visits to the hospital this patient was diagnosed with: splenomegaly, and macrocytic anemia due to pernicious anemia. A splenectomy puts one at increased risk for infection by encapsulated organisms, and is to be avoided if possible. There are few case reports and studies that show vitamin B12 therapy can potentially cause a reversal in the splenomegaly as well as a reversal in the pancytopenia and macrocytic anemia. We hope to show that the least invasive treatment for vitamin B12, vitamin therapy, can be of use and effective.
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http://dx.doi.org/10.1155/2022/2854520 | DOI Listing |
J Clin Neuromuscul Dis
September 2025
Associated Professor of Radiology, Mashhad University of Medical Sciences, Mashhad, Iran.
A 19-year-old woman presented with acute progressive generalized limb weakness and inability to ambulate, after a recent upper respiratory tract infection. Given the flaccid quadriparesis and preceding infection, Guillain-Barré syndrome (GBS) was initially considered. This case aims to illustrate the diagnostic challenges and the critical role of backward reasoning in differentiating GBS mimickers.
View Article and Find Full Text PDFCase Rep Psychiatry
August 2025
Department of Psychiatry, Henry Ford Hospital, Detroit, Michigan, USA.
Pica, the ingestion of nonnutritive substances, represents a complex and poorly understood phenomenon. Although it is inherently a psychiatric condition, it has an intricate relationship with other psychiatric, physiological, and pathological states, suggesting a highly multifactorial etiology. Recognizing and addressing pica in acute settings is crucial, as it poses significant health risks for patients, including the potential of toxic ingestion.
View Article and Find Full Text PDFInt J Mol Sci
August 2025
Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), 90146 Palermo, Italy.
VEXAS syndrome (Vacuoles, E1-enzyme, X-linked, Autoinflammation, and Somatic) is a recently identified late-onset autoinflammatory disorder characterized by a unique interplay between hematological and inflammatory manifestations. It results from somatic mutations in the gene, located on the short arm of the X chromosome. Initially, females were considered mere carriers, with the syndrome primarily affecting males over 50.
View Article and Find Full Text PDFMitochondrion
August 2025
Laboratory of Genomic Medicine, GHC GENETICS SK, Comenius University Science Park, Bratislava, Slovakia; Institute of Biology and Biotechnology, Department of Biology, Faculty of Natural Sciences, University of Ss. Cyril and Methodius, Trnava, Slovakia.
In this case report, we describe an individual with Pearson syndrome, representing the first reported case in Slovakia. The patient was 1.5-year-old boy with pancytopenia including macrocytic anemia, neutropenia and thrombocytopenia, pancreatic insufficiency, hepatopathy, psychomotor development delay, short stature and failure to thrive.
View Article and Find Full Text PDFFEBS Lett
August 2025
State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-Sen University, Guangzhou, China.
Kit encodes a receptor tyrosine kinase crucial for various biological processes. To investigate how Kit structural mutations associated with the porcine dominant white phenotype affect hematopoiesis, we utilized three distinct gene-edited mouse models: Kit coding sequence (CDS) duplication (Kit), Kit exon 17 deletion (Kit), and a compound heterozygous model carrying both mutations (Kit), along with wild-type controls (Kit). We observed that the Kit structural mutations significantly impaired erythropoiesis in bone marrow, resulting in hypoplastic macrocytic anemia and compensatory erythropoiesis in the spleen.
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