Related Experiment Video

Updated: Jan 21, 2026

A Pediatric Concussion Model in Mice: Closed Head Injury with Long-Term Disorders (CHILD)
07:01

A Pediatric Concussion Model in Mice: Closed Head Injury with Long-Term Disorders (CHILD)

Published on: February 7, 2025

871

A 5-year-old male child with late infantile metachromatic leukodystrophy: a case report

Afreen Mahmood1, Swathi Chacham2, Uppin Narayan Reddy2

  • 1Department of Paediatrics, Deccan College of Medical Sciences, Princess Esra Hospital, Hyderabad, Andhra Pradesh, India dr.afreen_mahmood@yahoo.com.

Journal of Child Neurology
|August 14, 2014
PubMed

Insights

Metachromatic leukodystrophy, a rare myelin disorder, was diagnosed in a 5-year-old boy with developmental regression. Undetectable aryl sulfatase A enzyme confirmed the late infantile variant.

Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • Metachromatic leukodystrophy (MLD) is a rare inherited disorder affecting myelin metabolism.
  • It is caused by a deficiency in the aryl sulfatase A (ARSA) enzyme, leading to cerebroside sulfatide accumulation.
  • This accumulation damages the myelin sheath in the central and peripheral nervous systems.

Observation:

  • A 5-year-old male child presented with regression of developmental milestones, recurrent seizures, and spasticity starting from age two.
  • Initial investigations included brain CT, revealing hypodensities in the corpus callosum and white matter.
  • Brain MRI demonstrated characteristic symmetrical periventricular white matter hyperintensities with sparing of subcortical U-fibers.

Findings:

  • Enzyme analysis revealed undetectable aryl sulfatase A (ARSA) activity.
  • Beta-galactosidase enzyme activity was within the normal range.
  • These findings confirmed the diagnosis of the late infantile variant of metachromatic leukodystrophy.

Implications:

  • This case highlights the importance of considering MLD in pediatric neurodegenerative disorders with specific MRI findings.
  • Early and accurate diagnosis through enzyme assays is crucial for potential therapeutic interventions.
  • Further research into ARSA enzyme replacement or gene therapy may offer future treatment options for MLD.

Keywords:
aryl sulfatase deficiencydegeneration disorderinfantilemetachromatic leukodystrophywhite matter

More Related Videos

Assessing the Coherence of Parents' Short Narratives Regarding their Child Using the Five-Minute Speech Sample Procedure07:56

Assessing the Coherence of Parents' Short Narratives Regarding their Child Using the Five-Minute Speech Sample Procedure

Published on: September 19, 2019

10.6K
Making MR Imaging Child's Play - Pediatric Neuroimaging Protocol, Guidelines and Procedure15:18

Making MR Imaging Child's Play - Pediatric Neuroimaging Protocol, Guidelines and Procedure

Published on: July 30, 2009

18.6K

Related Concept Videos

Infertility in Males01:23

Infertility in Males

Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
531
5-Number Summary01:04

5-Number Summary

In a dataset, the 5-number summary includes the minimum data value, the data value of the first quartile, the median data value or data value of the second quartile, the data value of the third quartile, and the maximum data value. These 5 data values can be visualized as a box and whisker plot.
In a box plot, the minimum and maximum data values represent the lower and upper whiskers in the graph, and the median is designated as the center of the box in the chart. The first quartile and third...
5.5K
Disorders of the Male Reproductive System01:20

Disorders of the Male Reproductive System

Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
4.0K
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
7.9K
Data Reporting and Recording01:24

Data Reporting and Recording

Reporting and recording are crucial in data documentation. The timely, thorough, and accurate documentation of facts is essential when recording patient data. Failure to record findings during an assessment or interpretation of a problem will result in loss of information and make the patient document unreliable. The reader is left with general impressions if the information is not specific. A recording is documenting data of the individual's health information in a traceable, secure, and...
5.3K
Types of Reports I: Hands-off Report01:25

Types of Reports I: Hands-off Report

A hand-off report, also known as a change-of-shift report, is a crucial nursing process that ensures the smooth transition of patient care responsibilities between nursing staff.
Following are the key components and categories of hand-off reports:
Purpose and Process:
1.5K