Back to Search
Start Over
Intestinal Involvement in Metachromatic Leukodystrophy
- Source :
- Journal of Child Neurology. 26:117-120
- Publication Year :
- 2011
- Publisher :
- SAGE Publications, 2011.
-
Abstract
- Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A. If arylsulfatase A is deficient, sulfatide accumulates. Functionally, this accumulation results in progressive neurological deterioration. The reports about the extra nervous system manifestations of metachromatic leukodystrophy are related to the gallbladder involvement such as polyposis. Unexplained vomiting began in a 5½-year-old girl with late infantile metachromatic leukodystrophy. Endoscopy showed multiple polypoid masses in the pylor of the stomach and duodenum. Severe gastrointestinal bleedings occurred during nasogastric feeding. Intestinal intussusception developed later. To the authors’ knowledge, intestinal polypoid masses and obstruction with metachromatic leukodystrophy have not previously been reported. The persistent vomiting may be a symptom of intestinal obstruction due to intestinal polypoid masses with metachromatic leukodystrophy. There may be a trend for the development of polypoid masses in intestine as well as in the gallbladder in metachromatic leukodystrophy.
- Subjects :
- medicine.medical_specialty
Arylsulfatase A
Pathology
Vomiting
Intussusception (medical disorder)
Internal medicine
medicine
Lysosomal storage disease
Humans
biology
business.industry
Leukodystrophy
Brain
Infant
Leukodystrophy, Metachromatic
medicine.disease
Magnetic Resonance Imaging
Metachromatic leukodystrophy
Intestinal Diseases
Endocrinology
Pediatrics, Perinatology and Child Health
biology.protein
Female
Neurology (clinical)
business
Arylsulfatase
Subjects
Details
- ISSN :
- 17088283 and 08830738
- Volume :
- 26
- Database :
- OpenAIRE
- Journal :
- Journal of Child Neurology
- Accession number :
- edsair.doi.dedup.....2182669a3f72f0ab8cd63c19fc32f1cb