MRI pattern in children with Leukodystrophy

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).

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

including nerve conduction studies and electromyography will be useful in identifying peripheral nerve involvement (e.g., in AMN, MLD, Krabbe) or myopathy with or without a neuropathy (e.g., in mitochondrial diseases) or metachromatic leukodystrophy. Moreover, electroencephalographic data will be assessed, particularly in patients with seizures.