Related Experiment Video

Updated: Aug 20, 2026

A Point-of-Care Method with Integrated Decision Support Tool to Estimate Anemia at Population Level
05:35

A Point-of-Care Method with Integrated Decision Support Tool to Estimate Anemia at Population Level

Published on: January 19, 2024

A child with vitamin B12 deficiency presenting with pancytopenia and hyperpigmentation

Ozlem Pelin Simşek1, Nazli Gönç, Fatma Gümrük

  • 1Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.

Journal of Pediatric Hematology/Oncology
|December 14, 2004
PubMed

Insights

Nutritional vitamin B12 deficiency in an exclusively breast-fed infant caused severe pancytopenia, neurologic regression, and tremor. Prompt B12 therapy improved hematologic and physical symptoms, though neurologic deficits persisted.

Area of Science:

  • Pediatrics
  • Hematology
  • Neurology

Background:

  • Nutritional vitamin B12 deficiency is a critical concern in exclusively breast-fed infants.
  • Maternal B12 deficiency can lead to severe infant health issues.
  • Early diagnosis and intervention are crucial for managing B12 deficiency complications.

Purpose of the Study:

  • To report a case of severe nutritional vitamin B12 deficiency in an infant.
  • To highlight the diverse clinical manifestations, including neurologic regression and pancytopenia.
  • To emphasize the importance of considering maternal nutritional status.

Main Methods:

  • Clinical case presentation of a 16-month-old infant with developmental regression.
  • Laboratory investigations including serum B12 levels, urinary methylmalonic acid, and bone marrow aspiration.
  • Diagnostic evaluation including Schilling test and maternal B12 assessment.

Main Results:

  • Infant presented with neurologic regression, pancytopenia, hyperpigmentation, and tremor.
  • Confirmed low serum B12 and elevated urinary methylmalonic acid levels.
  • Megaloblastic changes on bone marrow aspiration; normal Schilling test.
  • Maternal serum B12 levels were also found to be low.
  • Parenteral B12 therapy led to complete recovery of pancytopenia, tremor, and hyperpigmentation.

Conclusions:

  • Nutritional vitamin B12 deficiency can cause severe, multi-systemic illness in infants.
  • Exclusive breastfeeding without adequate maternal B12 intake is a significant risk factor.
  • While hematologic and physical symptoms may resolve, neurologic sequelae can be persistent, underscoring the need for early detection.

Related Concept Videos

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...
Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Pigmentation01:19

Pigmentation

The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.