Year: 2025
Type: article
Study design: Case Report
Abstract: The paper reports the case of a seven-month-old infant presenting with recurrent vomiting, severe pallor, hypotonia and growth arrest. Laboratory tests revealed pancytopenia with macrocytic anaemia, hyperhomocysteinemia and markedly elevated methylmalonic acid levels, indicating vitamin B12 deficiency. The mother, despite an omnivorous diet, was also found to have vitamin B12 deficiency due to autoimmune atrophic gastritis. After one week of hydroxocobalamin therapy, the infant’s clinical and laboratory findings improved significantly. This case highlights the importance of early recognition of vitamin B12 deficiency to prevent severe neurological consequences.
Authors: Federica Acone, Violante Gustuti
Institution: University of Milano-Bicocca
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4408872017