Related Experiment Videos
[Krabbe's leukodystrophy. Report of a case]
Boletin Medico Del Hospital Infantil De Mexico
|March 1, 1976
Insights
This report details an 18-month-old boy with Krabbe disease, a rare leukodystrophy. Clinical, radiological, pathological, and genetic findings are presented, alongside a literature review.
Area of Science:
- Pediatric Neurology
- Genetics
- Pathology
Background:
- Krabbe disease is a rare, severe, inherited lysosomal storage disorder.
- It affects myelin development in the central and peripheral nervous systems.
- Early diagnosis and understanding are crucial for management.
Abstract:
A case of Krabbe's leukodystrophy is reported in a male child 18 months old, with evolution of 12 months. The clinical, radiological, pathological and genetic studies are described. Besides, this case was the basis to review the topic of leukodystrophy and the corresponding literature, considering that this is an uncommon disease in our milieu.