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CC BY 4.0 · Arq Neuropsiquiatr 2023; 81(01): 099-100
DOI: 10.1055/s-0043-1761293
Images in Neurology

Advanced MR imaging features of uncontrolled phenylketonuria in an adult patient

Recursos avançados de imagem de RM de fenilcetonúria descontrolada em um paciente adulto
Alper Ayasli 
1   Duzce University, Medical Faculty, Department of Neurology, Duzce, Turkey.
,
Hayri Ogul 
2   Duzce University, Medical Faculty, Department of Radiology, Duzce, Turkey.
,
Omer Onbas 
2   Duzce University, Medical Faculty, Department of Radiology, Duzce, Turkey.
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A 29-year-old male was brought to the neurology department with a complaint of vomiting for one month. He had known mental retardation, epilepsy, and chronic hypocalcemia. His relatives said that the patient was diagnosed with phenylketonuria in childhood. As a result of further radiological examination, cranial MR images were compatible with phenylketonuria ([Figure 1A-F]). Although our case is very rare, it is worth reminding that phenylketonuria can be diagnosed in adulthood[1] and to emphasize that phenylketonuria is also present in the differential diagnosis of leukoencephalopathy.

Zoom Image
Figure 1 Axial fluid attenuation inversion recovery (A) MR image shows extensively increased periventricular white matter signal abnormalities in both cerebral hemispheres. No contrast-enhancing lesion is observed in post-contrast T1-weighted (B) MR imaging. Axial fluid attenuation inversion recovery and post-contrast T1-weighted MR images also demonstrate a prominent hyperostosis of the frontal bone. Diffusion weight imaging (C) shows bright signals in the periventricular white matter representing restricted diffusion with slightly hypointense ADC map (D). rCBF perfusion (E) MR reveals slightly hypoperfused white matter areas. Diffusion tensor imaging (F) shows thinning white matter fibers.

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Conflict of Interest

There is no conflict of interest to declare.

Authors' Contributions

HO: wrote the initial draft of the manuscript; AA: contributed to interpretation of the data and assisted in the preparation of the manuscript. All authors read and approved the final version of the manuscript and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work will be appropriately investigated and resolved.


  • References

  • 1 Chen S, Zhu M, Hao Y, Feng J, Zhang Y. Effect of delayed diagnosis of phenylketonuria with imaging findings of bilateral diffuse symmetric white matter lesions: A case report and literature review. Front Neurol 2019; 10 (04) 1040
    CrossrefPubMedSearch in Google Scholar

Address for correspondence

Hayri Ogul

Publication History

Received: 01 August 2022

Accepted: 02 October 2022

Article published online:
14 March 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Chen S, Zhu M, Hao Y, Feng J, Zhang Y. Effect of delayed diagnosis of phenylketonuria with imaging findings of bilateral diffuse symmetric white matter lesions: A case report and literature review. Front Neurol 2019; 10 (04) 1040
    CrossrefPubMedSearch in Google Scholar

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Zoom Image
Figure 1 Axial fluid attenuation inversion recovery (A) MR image shows extensively increased periventricular white matter signal abnormalities in both cerebral hemispheres. No contrast-enhancing lesion is observed in post-contrast T1-weighted (B) MR imaging. Axial fluid attenuation inversion recovery and post-contrast T1-weighted MR images also demonstrate a prominent hyperostosis of the frontal bone. Diffusion weight imaging (C) shows bright signals in the periventricular white matter representing restricted diffusion with slightly hypointense ADC map (D). rCBF perfusion (E) MR reveals slightly hypoperfused white matter areas. Diffusion tensor imaging (F) shows thinning white matter fibers.