- 2023, Volume 54 - Number 4
- Published: November 15, 2023
Vitamin B12 deficiency: an unusual presentation. Case report
Inês Martins 1, Joana Faustino 2, Lígia Paulos 3, Ana S. Nicolau 3, Sofia Fernandes 4
1 Pediatria Médica, Hospital de Dona Estefânia, Lisbon, Portugal; 2 Pediatric Department, Hospital Dona Estefânia, Lisbon, Portugal; 3 Departamento de Pediatria, Hospital Beatriz Ângelo, Loures. Portugal; 4 Serviço de Genética Médica, Hospital Pediátrico, Unidade Local de Saúde de Coimbra, Coimbra, Portugal
Inês Martins, Joana Faustino, Lígia Paulos, Ana S. Nicolau, Sofia Fernandes
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Ana S. Nicolau, Email not available
Abstract
Vitamin B12 or cobalamin is a water-soluble vitamin absorbed in the terminal ileum after binding to intrinsic factor and has important physiologic roles in haematopoiesis, intermediary metabolism, growth, and early brain development. Vitamin B12 deficiency usually causes anaemia, macrocytosis, leukopenia, hyper-segmented neutrophils, and thrombocytopenia. Although most of the vitamin B12-deficient cases have only mild haematological findings, in approximately 10% of patients, life-threatening conditions, such as symptomatic pancytopenia, severe anaemia (haemoglobin level < 6 g/dL), and haemolytic anaemia, have been reported. Since the clinical findings of B12 deficiency are nonspecific, they are often overlooked, leading to a delay in the diagnosis. In this report we describe the case of a 16-year-old boy who presented with severe haemolytic anaemia and pancytopenia secondary to vitamin B12 deficiency, which resolved completely following appropriate replacement therapy.
