title: Study on MRI changes in phenylketonuria in patients referred to mofid hospital/iran.
abstract: 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Pediatric 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.
authors.forename: Parveneh
authors.initials: P
authors.lastname: Karimzadeh
authors.affiliation: Pediatric Neurology Department, Ardabil University of Medical Sciences, Ardabil, Iran.
authors.forename: Farzad
authors.initials: F
authors.lastname: Ahmadabadi
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Narjes
authors.initials: N
authors.lastname: Jafari
authors.affiliation: Pediatric Neurology Department, Arak University of Medical Sciences, Arak, Iran.
authors.forename: Fakhreddin
authors.initials: F
authors.lastname: Shariatmadari
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Nemati
authors.affiliation: Pediatric Department, Ardabil University of Medical Sciences, Ardabil, Iran.
authors.forename: Adel
authors.initials: A
authors.lastname: Ahadi
authors.affiliation: Surgery Department, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Sanaz
authors.initials: S
authors.lastname: Karimi Dardashti
authors.affiliation: Department of Neonatology, Ardabil University of Medical Sciences, Ardabil, Iran.
authors.forename: Mehrdad
authors.initials: M
authors.lastname: Mirzarahimi
authors.affiliation: Ophthalmology Department, Isfahan University of Medical sciences, Isfahan, Iran.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Dastborhan
authors.affiliation: Pediatric Nephrology Department, Ardabil University of Medical Scinces, Ardabil, Iran.
authors.forename: Javad
authors.initials: J
authors.lastname: Zare Noghabi
keywords: MRI; Phenylketonuria; Thompson score