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Phenylketonuria: A Scoring System for Brain Magnetic Resonance Imaging
Turkish archives of pediatrics, 2023-09, Vol.58 (5), p.519-526
[Peer Reviewed Journal]
2023 authors 2023 authors ;ISSN: 2757-6256 ;EISSN: 2757-6256 ;DOI: 10.5152/TurkArchPediatr.2023.23081 ;PMID: 37670551
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Title:
Phenylketonuria: A Scoring System for Brain Magnetic Resonance Imaging
Author:
Bako, Derya
;
Çıkı, Kısmet
Subjects:
Original
Is Part Of:
Turkish archives of pediatrics, 2023-09, Vol.58 (5), p.519-526
Description:
OBJECTIVEThe purpose of our study was to devise a new brain Magnetic Resonance Imaging (MRI) scoring system based on the Loes and modified Loes scores in phenylketonuria (PKU) patients. MATERIALS AND METHODSThe brain MRI scans of patients with late diagnosed PKU were evalu- ated retrospectively. Patients' age at diagnosis, age at which diet started, age at MRI, and, blood phenylalanine (Phe) levels at the time point closest to the MRI were recorded. RESULTSEleven patients aged from 3 to 28 years were included in the study. The median MRI involvement score was 17 (interquartile range = 3). The most involved white matter areas were the parietooccipital areas. There was a significant (P = .046) correlation between the blood Phe level at the timepoint closest to the imaging and the MRI involvement score. CONCLUSIONOur study provides insights into the MRI findings and scoring system in PKU patients. We have developed a scoring system based on the widely used Loes and modified Loes scoring systems that can be implemented in clinical practice. Also, our study contributes to the long-forgotten and largely abandoned area-imaging findings in late diagnosed and untreated PKU patients and set the stage for the future research in this field.
Publisher:
Turkish Pediatrics Association
Language:
English
Identifier:
ISSN: 2757-6256
EISSN: 2757-6256
DOI: 10.5152/TurkArchPediatr.2023.23081
PMID: 37670551
Source:
PubMed Central
ProQuest Central
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