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Study on MRI changes in phenylketonuria in patients referred to mofid hospital/iran
Parveneh Karimzadeh1, Farzad Ahmadabadi2, Narjes Jafari3
1Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ; Pediatric Neurology Department, Mofid Children Hospiutal, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Insights
Brain MRI reveals white matter changes in phenylketonuria (PKU) patients, indicating long-term phenylalanine control issues. This highlights the need for better PKU screening and management in Iran.
Area of Science:
- Neurology
- Metabolic Disorders
- Pediatrics
Background:
- Phenylketonuria (PKU) is a common metabolic disorder causing mental retardation.
- PKU screening is not routine in Iran, leading to late diagnosis.
- Brain MRI can detect myelination disorders in PKU patients.
Purpose of the Study:
- To assess MRI changes in PKU patients in Iran.
- To evaluate the correlation between MRI findings and phenylalanine levels.
- To investigate MRI as a tool for monitoring long-term PKU management.
Main Methods:
- Retrospective study of PKU patients referred for brain MRI.
- Assessment of phenylalanine levels at imaging and over one year.
- Evaluation of MRI patterns using modified Thompson scoring.
Main Results:
- 70% of PKU patients showed MRI involvement, primarily white matter changes.
- MRI scores correlated with age of regimen cessation and mean 1-year phenylalanine levels.
- No correlation found between MRI score and phenylalanine level at imaging or patient age.
Conclusions:
- Brain MRI and white matter involvement are valuable for assessing long-term phenylalanine control in PKU.
- MRI findings can help identify patients with suboptimal PKU management.
- This study underscores the importance of early PKU detection and ongoing monitoring.
Objective:
Phenylketonuria is one of the most common metabolic disorders and the first known cause of mental retardation in pediatrics. As Screening for phenylketonuria (PKU) is not a routine neurometabolic screening test for neonates in Iran, many PKU cases may be diagnosed after developing the clinical symptoms. One of the findings of PKU is myelination disorders, which is seen as hypersignal regions in T2-weighted (T2W) and FLAIR sequences of brain MRI. The aim of our study was to assess MRI changes in PKU patients referred to Mofid Children's Hospital, 2010-2011.
Materials & Methods:
We studied all PKU cases referred to our clinic as a referral neurometabolic center in Iran for brain MRI and assessed the phenylalanine level at the time of Imaging. The mean phenylalanine level (in one year), clinical manifestations, and MRI pattern based on Thompson scoring, were evaluated.
Results:
The mean age of our study group was 155±99 months and the mean diagnosis age was 37±27.85 months. There were 15 patients with positive and 15 with negative family history. The mean phenylalanine level at the time of imaging was 9.75±6.28 and the mean 1 year phenylalanine level was 10.28±4.82. Seventy percent of our patients had MRI involvement, in whom 20% showed atrophic changes, in addition to white matter involvement. Based on modified Thompson scoring, the score for our study group was 4.84. The maximum involvement in MRI was in occipital region, followed by parietal, frontal, and temporal zones. There was not any correlation between MRI score and patients' age. But we found significant relationship between MRI score and the age of regimen cessation. No correlation was seen between phenylalanine level (at the time of Imaging) and MRI score. But there was a relationship between mean 1 year phenylalanine level and MRI score.
Conclusion:
According to the results of this study, brain MRI and white matter involvement can be used for evaluation of long-term control of phenylalanine level in PKU cases.
