[Severe pancytopenia in an infant secondary to vitamin B12 deficiency]

Maria Laura Piasrellini1, Natalia Millán1, Matías Miranday1

  • 1Hospital Pediátrico San Luis.

Nutricion Hospitalaria
|November 28, 2025
PubMed

Insights

Severe vitamin B12 deficiency in infants can cause significant health issues. Early diagnosis and vitamin B12 treatment are crucial for preventing severe hematological complications.

Area of Science:

  • Pediatrics
  • Hematology
  • Nutritional Science

Background:

  • Severe vitamin B12 deficiency poses diagnostic challenges due to diverse clinical presentations.
  • Infants may exhibit symptoms like fatigue, poor appetite, paleness, and developmental delays.

Purpose of the Study:

  • To illustrate the unique characteristics of severe vitamin B12 deficiency in an infant.
  • To highlight key diagnostic differentiators for this condition.

Main Methods:

  • Case report of a 17-month-old infant with severe vitamin B12 deficiency.
  • Analysis of clinical manifestations, laboratory findings (reticulocyte count, LDH), and hematological parameters.

Main Results:

  • The infant presented with asthenia, hyporexia, paleness, and regression of maturational patterns.
  • Key indicators included decreased reticulocyte counts and elevated lactate dehydrogenase, suggesting suppressed erythropoiesis.
  • Advanced cobalamin deficiency affects all cell lines, leading to pancytopenia.

Conclusions:

  • Prompt recognition and treatment with vitamin B12 replacement are essential.
  • This prevents serious hematological complications associated with severe vitamin B12 deficiency.
Abstract

Related Concept Videos

Vitamins01:30

Vitamins

Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced...
2.3K
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
231
Disorders of Erythrocytes01:27

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
2.0K
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
3.9K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
683
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...
1.9K