Characterization and Outcome of Children With Leukodystrophy: An Observational Study at Sohag University Hospital
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Children With Leukodystrophy
- Sponsor
- Sohag University
- Enrollment
- 100
- Primary Endpoint
- Biochemical changes
- Last Updated
- 5 years ago
Overview
Brief Summary
Leukodystrophies are heterogeneous genetic disorders characterized by the selective involvement of white matter in the central nervous system (CNS) (1, 2). Inherited leukodystrophies are diseases of the myelin, including abnormal myelin development, hypomyelination, or degeneration of myelin (3, 4).
Most of these disorders fall into one of three categories; lysosomal storage diseases, peroxisomal disorders, and diseases caused by mitochondrial dysfunction and each leukodystrophy has distinctive clinical, biochemical, pathologic, and radiologic features (5).
Investigators
Nagat Mohamed Shehata
assistant specialist
Sohag University
Eligibility Criteria
Inclusion Criteria
- •The patients fulfilling all the following criteria will be included:
- •Age ≤ 18 years.
- •The presence of typical clinical, biochemical, and neuroimaging features of leukodystrophies.
Exclusion Criteria
- •1- Children who have coexistent genetic disorders. 2- Children who have cerebral malformations. 3- History of perinatal asphyxia. 4- History of head trauma or intracranial hemorrhage. 5- Acquired CNS myelin disorders, such as multiple sclerosis and related acquired demyelinating processes, infectious and post-infectious white matter damage, toxic injuries and non-genetic vascular insults.
Outcomes
Primary Outcomes
Biochemical changes
Time Frame: 2 years
1. Arylsulfatase A levels can be measured in the leukocytes if suspected Metachromatic Leukodystrophy. 2. Galactocerebrosidase (GALC) enzyme level for Krabbe's Disease. 3. Plasma VLCFAs for Adrenoleukodystrophy. 4. NAA levels in the urine for Canavan's Disease. 5. Beta galactosidase in leukocytes deficient in cases of infantile GM1 gangliosidosis \&Hexosaminidase for Tay Sachs disease. 6. Plasma FSH ,LH markedly reduced in cases of 4 H (Hypomyelination, hypodontia and hypogonadotropic hypogonadism syndrome). 7. Genetic testing for certain diseases
White matter changes in MRI
Time Frame: 2 years
Brain MRI of all patients will be systematically reviewed, particularly Sagittal T1, Axial T1, T2-weighted and fluid-attenuated inversion-recovery (FLAIR) sequences. Other sequences will be also reviewed if available, such as MR spectroscopy (MRS) (for mitochondrial disorders or Canavan disease to investigate abnormalities in lactate or N-acetyl aspartate (NAA) respectively), and diffusion-weighting (useful in disorders such as AARS2-related leukoencephalopathy).
Secondary Outcomes
- Urinary organic acid analysis(2 years)
- Electrophysiological changes(2 years)
- Tandem mass spectrometry (MS/MS) finding(2 years)