[Brain white matter lesions of children with phenylketonuria before and after treatment]
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Published on: June 28, 2019
Zhi-Xin Wang1, Zhong-Shu Zhou, Wei-Min Yu
1Department of Pediatrics, China Japan Friendship Hospital, Beijing 100029, China. jingyi.feng@siemens.com
Insights
Late-treated phenylketonuria (PKU) patients show brain white matter lesions and intellectual disability. A low-phenylalanine diet can improve these abnormalities and cognitive function in children with PKU.
Area of Science:
- Neurology
- Pediatrics
- Metabolic Disorders
Context:
- Phenylketonuria (PKU) is a genetic disorder requiring dietary management.
- Late treatment of PKU can lead to neurological complications, including white matter changes.
- Assessing the impact of treatment on brain structure and function is crucial for pediatric patients.
Purpose:
- To evaluate brain white matter changes in children with late-treated PKU before and after dietary intervention.
- To assess the correlation between white matter abnormalities and cognitive outcomes (IQ/DQ).
- To determine the efficacy of a low-phenylalanine diet in mitigating neurological deficits in PKU.
Summary:
- This study examined 19 children with late-treated PKU, assessing brain white matter lesions using MRI and cognitive function via IQ/DQ tests.
- Patients received a low-phenylalanine diet for 8-16 months, with follow-up imaging and cognitive assessments.
- Results showed a significant reduction in white matter abnormalities and a notable improvement in IQ/DQ scores post-treatment.
Impact:
- The findings indicate that early dietary intervention is critical for preventing severe neurological damage in PKU.
- A low-phenylalanine diet can partially reverse white matter lesions and improve cognitive function in late-treated PKU patients.
- This research highlights the role of white matter integrity in the cognitive development of children with PKU.
Objective:
To observe brain white matter changes in children with late-treated phenylketonuria (PKU) before and after receiving treatment.
Methods:
This study included 19 PKU patients (aged 34-410 weeks) who were administered a low-phenylalanine diet (< 15-50 mg/kg daily) for 8-16 months. The brain MR imaging with spin-echo T1-weighted and T2-weighted sequences in coronal and axial planes was taken before and after treatment. The white matter abnormalities (T2WI high signal intensity) were graded based on the Thompson grading system. Meanwhile the intelligence quotient (IQ) or developmental quotient (DQ) was tested by the Gesell's Intelligence Scale.
Results:
All 19 PKU patients presented with the brain white matter lesions, manifesting abnormally high T2-signal intensity in the periventricular region around anterior and posterior horns of both lateral ventricles. Different extents of mental retardation were also observed in the 19 patients. The low phenylalanine diet treatment decreased the average grade of abnormal T2-signal intensity from 2.59 to 1.76 (P < 0.05). The mean IQ or DQ improved from 44.8 to 61.6 after treatment (P < 0.05). There was some correlation between the amelioration of brain white matter lesions and IQ or DQ.
Conclusions:
The patients with late-treated PKU have a higher occurrence of the brain white matter lesions and mental retardation. A low-phenylalanine diet treatment can partly improve the abnormalities. Brain white matter lesions may play a part in mental retardation.
