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Brain magnetic resonance imaging in children with optimally controlled hyperphenylalaninaemia
P B Toft1, H C Lou, I Krägeloh-Mann
1John F. Kennedy Institute, Glostrup, Denmark.
Insights
Early dietary management in children with hyperphenylalaninaemia (HPA) significantly reduces MRI white-matter changes and EEG abnormalities compared to adolescents. Optimal control in childhood is key for better neurological outcomes in HPA patients.
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.
Abstract:
This study was undertaken to investigate whether the white-matter changes on MRI and the EEG abnormalities detectable in treated adolescents and adults with hyperphenylalaninaemia (HPA) can be detected in younger children on an optimally controlled diet. The study included 17 children, 7-12 years of age, with HPA. The MRI of five healthy children were included in the blind evaluation of the MR images. According to mutation genotype and dietary tolerance of phenylalanine, 9 patients have severe HPA and 8 have moderate HPA, all requiring dietary treatment. Mild white-matter hyperintensity was detected in 1 of the 5 healthy children and in 10 of 17 patients. EEG was abnormal in 2 patients. This group of children was compared with a previously reported group of adolescents with HPA who had been treated according to the same dietary regimen. MRI changes and EEG abnormalities were significantly less frequent in the group of children than in the group of adolescents. It is suggested that the more frequent MRI changes and EEG abnormalities seen in adolescents are related to the fact that a relaxation of the dietary treatment after the age of 8 years is often accepted.