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 adulthood11 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 and to emphasize that phenylketonuria is also present in the differential diagnosis of leukoencephalopathy.
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.
References
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1Chen 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
Publication Dates
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Publication in this collection
28 Apr 2023 -
Date of issue
2023
History
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Received
01 Aug 2022 -
Accepted
02 Oct 2022
