Magnetic Resonance Imaging Pattern Recognition Approach in Pediatric Inherited Neurodegenerative Diseases

Pediatric inherited neurodegenerative diseases are non-homogenous group of diseases caused by inborn errors of metabolism (IEMs) that mainly impact the central nervous system. They typically affect newborns and infants . Genetic defects causing specific enzyme deficiencies that lead to deficiency or toxic accumulation of essential metabolites with specific biochemical and molecular abnormalities are the cause of these diseases .

Inborn errors of metabolism are uncommon, which leads to a lack of experience for most neuroradiologists to diagnose these disorders easily. Moreover, most of these disorders manifest in nonspecific manner, creating a diagnostic difficulty for pediatricians, neurologists, and geneticists .

Clinical presentation may be confusing and potentially lead to a delay in the diagnosis and treatment. Incidence of these disorders may vary from one region to another, being higher in communities with consanguineous marriages, ranging from 1.2 to 2 per 100,000 live births. Most exhibit an autosomal recessive mode of inheritance and fewer exhibit an X-linked mode of inheritance.

Multiple methods can be used to classify neurometabolic diseases according to their clinical presentation, biochemical features, impacted cellular organelle, or involved location of the brain.

As a non-invasive means, neuroimaging approaches play a major role in increasing diagnostic accuracy and patient follow-up in IEM by assessing the timing, degree, reversibility, and brain injury.