Author/Authors :
KARIMZADEH، Parveneh نويسنده Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , AHMADABADI، Farzad نويسنده Pediatric Neurology Department, Ardabil University of Medical Sciences, Ardabil, Iran , , JAFARI، Narjes نويسنده Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , SHARIATMADARI، Fakhreddin نويسنده Pediatric Neurology Department, Arak University of Medical Sciences, Arak, Iran , , NEMATI، Hamid نويسنده Pediatric Neurology Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Scineces, Tehran ,Iran , , AHADI، Adel نويسنده Pediatric Department, Ardabil University of Medical Sciences, Ardabil, Iran , , KARIMI DARDASHTI، Sanaz نويسنده Surgery Department, Tehran University of Medical Sciences, Tehran, Iran , , Mirzarahimi، Mehrdad نويسنده Department of Community Medicine, School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran , , DASTBORHAN، Zahra نويسنده Ophthalmology Department, Isfahan University of Medical sciences, Isfahan, Iran , , ZARE NOGHABI، Javad نويسنده Pediatric Nephrology Department, Ardabil University of Medical Scinces, Ardabil, Iran Corresponding Author: Jafari N. MD ,
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.
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.
