A 17-Month-old Boy With Pancytopenia Caused by a Rare Genetic Defect of Vitamin B12 Malabsorption
We present the case of a 17-month-old boy with failure to thrive, pancytopenia, and fevers. His megaloblastic anemia was overlooked leading to unnecessary invasive testing. Findings on bone marrow biopsy prompted investigation for genetic disorders of B12 metabolism. Exome sequencing uncovered 1 known pathogenic variant and 1 novel likely pathogenic variant in CUBN, confirming the diagnosis of Imerslund-Gräsbeck syndrome. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - February 24, 2022 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research
A rare cause of dyspeptic symptoms and anaemia in a young man
A 33-year-old male patient presented to our gastroenterology clinic, in January 2020, with complains of early satiety, regurgitation, heartburn and weakness for the past several months. He denied any complains of nausea, vomiting or weight loss. His past medical history was significant for a Heineke-Mikulicz pyloroplasty secondary to gastric outlet obstruction in 2004 at the age of 17 years, after which he remained relatively asymptomatic for 10 years. He had an unremarkable family history for autoimmune disease or gastric cancer. In 2014, he developed anorexia, weight loss, weakness and numbness in the fingers, and was di...
Source: Gut - February 8, 2022 Category: Gastroenterology Authors: Rehman, H., Abid, S., Kayani, N., Haroon, A. Tags: GUT Snapshot, Gut Editor ' s quiz: GI snapshot Source Type: research
Cold autoimmune hemolytic anemia with myelodysplastic syndrome: Not just an "Open and Shut case"
This report is being discussed in view of its rarity of presentation of cold AIHA with MDS.PMID:35074995 | DOI:10.4103/IJPM.IJPM_981_20 (Source: Indian Journal of Pathology and Microbiology)
Source: Indian Journal of Pathology and Microbiology - January 25, 2022 Category: Pathology Authors: Deepti Mutreja Gourang Paliwal Vishal Mangal Amit K Biswas Source Type: research
Cold autoimmune hemolytic anemia with myelodysplastic syndrome: Not just an "Open and Shut case"
This report is being discussed in view of its rarity of presentation of cold AIHA with MDS.PMID:35074995 | DOI:10.4103/IJPM.IJPM_981_20 (Source: Indian Journal of Pathology and Microbiology)
Source: Indian Journal of Pathology and Microbiology - January 25, 2022 Category: Pathology Authors: Deepti Mutreja Gourang Paliwal Vishal Mangal Amit K Biswas Source Type: research
Cold autoimmune hemolytic anemia with myelodysplastic syndrome: Not just an "Open and Shut case"
This report is being discussed in view of its rarity of presentation of cold AIHA with MDS.PMID:35074995 | DOI:10.4103/IJPM.IJPM_981_20 (Source: Indian Journal of Pathology and Microbiology)
Source: Indian Journal of Pathology and Microbiology - January 25, 2022 Category: Pathology Authors: Deepti Mutreja Gourang Paliwal Vishal Mangal Amit K Biswas Source Type: research
