Brain magnetic resonance imaging in children with optimally controlled hyperphenylalaninaemia

Area of Science:

• Neurology
• Pediatrics
• Metabolic Disorders

Background:

• Hyperphenylalaninaemia (HPA) is a metabolic disorder requiring lifelong dietary management.
• White-matter changes on MRI and EEG abnormalities are known complications in treated adolescents and adults with HPA.
• The impact of early and optimal dietary control in younger children with HPA is less understood.

Purpose of the Study:

• To investigate the prevalence of MRI white-matter changes and EEG abnormalities in children (7-12 years) with HPA on an optimally controlled diet.
• To compare these findings with a previously reported group of adolescents with HPA treated similarly.
• To assess the effectiveness of early dietary intervention in preventing neurological complications.

Main Methods:

• 17 children (7-12 years) with HPA (9 severe, 8 moderate) on dietary treatment were studied.
• MRI scans were performed and blindly evaluated alongside scans from 5 healthy children.
• Electroencephalography (EEG) was used to assess brain activity.

Main Results:

• Mild white-matter hyperintensity was found in 10 of 17 HPA children, compared to 1 of 5 healthy controls.
• EEG abnormalities were detected in 2 HPA children.
• MRI changes and EEG abnormalities were significantly less frequent in this pediatric group than in a previously studied adolescent group.

Conclusions:

• Optimally controlled dietary treatment in young children with HPA is associated with fewer MRI white-matter changes and EEG abnormalities.
• These findings suggest that early and consistent dietary management is crucial for preventing neurological complications.
• Less frequent abnormalities in children compared to adolescents may be linked to stricter dietary adherence before age 8, before potential treatment relaxation.