Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Comparison of Quality of Life, Anxiety, and Depression Levels in Celiac Patients With Children Without Chronic Illnesses.

Children (Basel, Switzerland)·2025

Same author

Evaluation of nutritional status and related factors in children with cystic fibrosis.

The Turkish journal of pediatrics·2022

Same author

Evaluation of the Relationship Between Facial Nerve and Lateral Semicircular Canal in the Posterior Tympanotomy Approach.

The journal of international advanced otology·2022

Same author

Cochlear Implant Failure in the Pediatric Population.

Journal of audiology & otology·2021

Same author

Tracheoesophageal puncture closure with annular mucosal flap.

Head & neck·2021

Same author

Transoral Approach to the Giant Deep Lobe Parotid Gland Pleomorphic Adenoma.

The Journal of craniofacial surgery·2021

Search research articles

Related Experiment Video

Updated: Jun 5, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Intestinal involvement in metachromatic leukodystrophy.

Halûk Yavuz¹, Hasan Ali Yüksekkaya

¹Department of Pediatrics, Selçuk University, Konya, Turkey. haya@selcuk.edu.tr

Journal of Child Neurology

|January 8, 2011

Summary

This summary is machine-generated.

Metachromatic leukodystrophy (MLD), a lysosomal storage disease, can cause gastrointestinal issues. This case highlights MLD

More Related Videos

Isolating Central Nervous System Tissues and Associated Meninges for the Downstream Analysis of Immune cells

Isolating Central Nervous System Tissues and Associated Meninges for the Downstream Analysis of Immune cells

Published on: May 19, 2020

Leukocyte Infiltration of Cremaster Muscle in Mice Assessed by Intravital Microscopy

Leukocyte Infiltration of Cremaster Muscle in Mice Assessed by Intravital Microscopy

Published on: April 15, 2020

Related Experiment Videos

Last Updated: Jun 5, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

Isolating Central Nervous System Tissues and Associated Meninges for the Downstream Analysis of Immune cells

Isolating Central Nervous System Tissues and Associated Meninges for the Downstream Analysis of Immune cells

Published on: May 19, 2020

Leukocyte Infiltration of Cremaster Muscle in Mice Assessed by Intravital Microscopy

Leukocyte Infiltration of Cremaster Muscle in Mice Assessed by Intravital Microscopy

Published on: April 15, 2020

Area of Science:

Biochemistry
Genetics
Pediatric Neurology

Background:

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder due to arylsulfatase A deficiency, leading to sulfatide accumulation and neurological decline.
Extra-nervous system manifestations of MLD are uncommon, with gallbladder polyposis being a reported finding.

Purpose of the Study:

To report a novel case of gastrointestinal polypoid masses and obstruction in a patient with late infantile metachromatic leukodystrophy.
To investigate the potential association between MLD and intestinal polyp formation.

Main Methods:

Case report of a 5.5-year-old girl with late infantile MLD.
Clinical presentation including unexplained vomiting and severe gastrointestinal bleeding.
Endoscopic and radiological investigations to identify gastrointestinal abnormalities.
Literature review for previously reported MLD-associated gastrointestinal manifestations.

Main Results:

The patient presented with persistent vomiting, severe gastrointestinal bleeding, and intestinal intussusception.
Endoscopy revealed multiple polypoid masses in the stomach and duodenum.
Intestinal obstruction secondary to polypoid masses was diagnosed.
No prior reports of intestinal polypoid masses and obstruction in MLD patients were found.

Conclusions:

Persistent vomiting in MLD patients may indicate intestinal obstruction due to polypoid masses.
This case suggests a possible trend for polyp development in the intestines, similar to the gallbladder, in MLD.
Further research is needed to confirm the association between MLD and gastrointestinal polypoid masses.