Characterization and Outcome of Children With Leukodystrophy: An Observational Study at Sohag University Hospital

Characterization and Outcome of Children With Leukodystrophy: An Observational Study at Sohag University Hospital

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).

Inclusion Criteria:

• The patients fulfilling all the following criteria will be included:

  1. Age ≤ 18 years.
  2. 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.