Thiamine Responsive Disorders in Pediatrics

Thiamine deficiency disorders (TDD) pose a significant challenge in pediatric medicine, presenting a range of clinical abnormalities with potentially serious consequences. From infancy to childhood, the symptoms of TDD vary widely and can mimic other common illnesses, often delaying diagnosis and treatment. However, a recent study has shed light on a promising approach: a predictive model for identifying thiamine-responsive disorders (TRDs) among infants and young children admitted to the hospital with suspected signs or symptoms of TDD.

This study, conducted in a high-risk setting, examined the effectiveness of thiamine treatment in children aged 21 days to <18 months who exhibited indications of TDD. The findings revealed that most children showed improvement with thiamine treatment, emphasizing the importance of this essential nutrient in pediatric health.

Furthermore, the study identified five key factors predictive of TRD, including exclusive/predominant breastfeeding, hoarse voice/loss of voice, cyanosis, no eye contact, and no diarrhea in the past two weeks. These predictive markers can help clinicians diagnose TRD, enabling timely intervention and better outcomes for vulnerable pediatric patients.

Given the high prevalence of TRD, a proactive approach to thiamine administration is recommended for all infants and children showing signs or symptoms consistent with TDD in similar high-risk settings.

Smith TJ, Arnold CD, Fischer PR, et al. A Predictive Model for Thiamine Responsive Disorders Among Infants and Young Children: Results from a Prospective Cohort Study in Lao People's Democratic Republic. The Journal of Pediatrics. 2024;268. DOI:https://doi.org/10.1016/j.jpeds.2024.113961