Related Experiment Video

Updated: Jun 26, 2025

The Isolation of Flowing Mesenteric Lymph in Mice to Quantify In Vivo Kinetics of Dietary Lipid Absorption and Chylomicron Secretion
06:14

The Isolation of Flowing Mesenteric Lymph in Mice to Quantify In Vivo Kinetics of Dietary Lipid Absorption and Chylomicron Secretion

Published on: November 30, 2022

2.5K

Chylomicron retention disease: a rare aetiology of failure to thrive

Yojana Sunkoj1, Zhongxin Yu2, Adnan Altaf3

  • 1Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA dryojanasunkoj@gmail.com.

BMJ Case Reports
|May 15, 2024
PubMed

Insights

Chylomicron retention disease (CRD) is a rare cause of failure to thrive (FTT) in children. Early consideration of CRD is crucial, especially when common treatments fail or concerning symptoms are present.

Area of Science:

  • Pediatric Gastroenterology
  • Rare Genetic Disorders
  • Metabolic Diseases

Background:

  • Failure to thrive (FTT) in children has a wide range of causes, including rare conditions.
  • Recognizing uncommon etiologies is vital, particularly when standard treatments are ineffective or other symptoms are present.

Observation:

  • This case report focuses on chylomicron retention disease (CRD) as an underrecognized cause of FTT.
  • CRD symptoms are often nonspecific, leading to diagnostic delays.
  • Diagnosis is confirmed through genetic testing and small intestinal biopsy histology.

Findings:

  • Chylomicron retention disease (CRD) presents a rare but significant etiology for pediatric failure to thrive (FTT).
  • The nonspecific presentation of CRD can mask its underlying cause, delaying appropriate diagnosis and intervention.

Implications:

  • Clinicians should consider CRD in the differential diagnosis of FTT, especially after excluding more common causes.
  • Timely diagnosis of CRD through genetic and histological analysis is essential for effective management.
  • Raising awareness of rare conditions like CRD can improve diagnostic pathways for complex pediatric cases.

Keywords:
GastroenterologyMalabsorption

More Related Videos

A Fluorescence-based Assay for Characterization and Quantification of Lipid Droplet Formation in Human Intestinal Organoids10:12

A Fluorescence-based Assay for Characterization and Quantification of Lipid Droplet Formation in Human Intestinal Organoids

Published on: October 13, 2019

9.1K
The Murine Choline-Deficient, Ethionine-Supplemented CDE Diet Model of Chronic Liver Injury07:27

The Murine Choline-Deficient, Ethionine-Supplemented CDE Diet Model of Chronic Liver Injury

Published on: October 21, 2017

11.8K

Related Concept Videos

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...
156
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
1.1K
Lipid Absorption01:24

Lipid Absorption

Dietary triglycerides from chyme in the duodenum are mixed with bile salts produced by the liver to emulsify fats. As a result, large droplets are broken down into smaller ones, increasing the surface area for enzymatic action. Once emulsified, pancreatic lipases hydrolyze the triglycerides into free fatty acids and monoglycerides.
These breakdown products bind with bile salts and lecithin to form micelles, which quickly pass between microvilli to come in close contact with the apical...
453
Chronic Pancreatitis I: Introduction01:24

Chronic Pancreatitis I: Introduction

The pancreas, an elongated and flat gland situated behind the stomach, serves a vital function in digesting food and managing blood sugar levels.
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
87
Acute Respiratory Failure-V01:29

Acute Respiratory Failure-V

The treatment for acute respiratory failure varies based on factors like the underlying cause, overall health, and severity. A collaborative healthcare team is essential for early detection, often through arterial blood gas analysis. Identifying the cause is the primary goal, with treatment strategies adjusted for ventilation/perfusion (V/Q) mismatch, shunting, or diffusion impairment.
Ensure that patients are monitored continuously for their response to therapy, including changes in...
135
Overview of Lipid Metabolism01:24

Overview of Lipid Metabolism

Lipid metabolism is a crucial process in the human body that involves the synthesis and degradation of lipids. This process is essential for energy production, cell membrane formation, and hormone production, among other functions.
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
1.4K