Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children

Abstract

Diseases primarily affecting the basal ganglia in children result in characteristic disturbances of movement and muscle tone. Both experimental and clinical evidence indicates that the basal ganglia also play a role in higher mental states. The basal ganglia can be affected by neurometabolic, degenerative diseases or other conditions from which they must be differentiated. Neuroradiological findings in basal ganglia diseases are also known. However, they may be similar in different diseases. Their assessment in children may require repeated MRI examinations depending on the stage of brain development (mainly the level of myelination). A large spectrum of pathological changes in the basal ganglia in many diseases is caused by their vulnerability to metabolic abnormalities and chemical or ischemic trauma. The diagnosis is usually established by correlation of clinical and radiological findings. Neuroimaging of basal ganglia in neurometabolic diseases is helpful in early diagnosis and monitoring of changes for optimal therapy. This review focuses on neuroimaging of basal ganglia and its role in the differential diagnosis of inborn errors of metabolism.

Keywords: basal ganglia abnormalities; children; neurometabolic disease.

Figure 1

Brain anatomy on MRI, the basal ganglia on the T2-weighted image, axial plane (A,B).

Figure 2

Infant brain MRI—no differences in signal intensity between the basal ganglia and the surrounding structures before the completion of myelination: (a,b) axial T1-weighted images (T1-WI) in a neonate with a hyperintense signal in the posterior internal capsule; (c) axial T2-weighted images (T2-WI) at the 36th week of gestation; (d) axial T2-WI in a neonate.

Figure 3

(a,b). Completion of myelination on brain MRI and differences in signal intensity between the basal ganglia and the surrounding brain tissues (axial T2-WI).

Figure 4

Completion of myelination on brain MRI and differences in signal intensity between the basal ganglia and the surrounding brain—coronal T2-WI; putamen and caudate nucleus head (a,b); thalamus and caudate body (c).

Figure 5

Focus of the review—neuroimaging of basal ganglia in neurometabolic diseases in children—involvement of basal ganglia in inborn diseases of metabolism, often with white matter involvement (three spectra of pathologies).

Figure 6

Scheme of radiological assessment of basal ganglia neuroimaging changes in neurometabolic diseases. Legend: SI—signal, GRE—gradient-echo/sequence, MRS—magnetic resonance spectroscopy, DTI—diffusion tensor imaging, DWI—diffusion-weighted imaging.