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Serial MRI alterations of pediatric patients with beta-propeller protein associated neurodegeneration (BPAN)
Yukio Kimura1, Noriko Sato1, Akihiko Ishiyama2
1Department of Radiology, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, 187-0031 Tokyo, Japan.
Background And Purpose:
Beta-propeller protein-associated neurodegeneration (BPAN) is one subtype of neurodegeneration with brain iron accumulation. It is difficult to diagnose BPAN due to the non-specificity of their clinical findings and neuroimaging in early childhood. We experienced four pediatric patients with serial brain MRI and evaluated the alteration of the findings through their course.
Methods:
We retrospectively reviewed the clinical findings and 21 MRI findings of the four patients with genetically confirmed pediatric BPAN. We also performed a quantitative MR assessment using the quantitative susceptibility mapping (QSM) values of the globus pallidus (GP), substantia nigra (SN), and deep cerebellar nuclei (DCN) compared to 10 age-matched disease controls.
Results:
Only one patient was suspected of BPAN based on imaging findings before the genetic diagnosis was made. The other three patients could not be suspected until their Whole-exome sequencings (WES) done. In all four cases, no abnormal signals were noted in the GP and SN at the initial brain MRI, but hypointensities were observed after the ages of 4-7 years on T2-weighted images and after the ages of 2-7 years on susceptibility-weighted images. In three patients, T2 hyperintensity in the bilateral DCN was persistently observed throughout the observational period. Three patients showed transient T2 hyperintensity and swelling in the GP, SN and/or DCN during the episodes of pyrexia and seizures. The other findings included cerebral and cerebellar atrophy, thinning of the corpus callosum, and delayed myelination. The QSM values of the GP and SN were significantly higher in the patients compared to the controls (P=0.005, respectively), but that of the DCN did not differ significantly (P=0.16).
Conclusion:
Brain MRI is a useful method to establish the early diagnosis of BPAN.
Insights
Beta-propeller protein-associated neurodegeneration (BPAN) is challenging to diagnose early. Serial brain MRI can reveal characteristic changes over time, aiding in the early detection of this neurodegenerative disorder.
Area of Science:
- Neuroscience
- Radiology
- Genetics
Background:
- Beta-propeller protein-associated neurodegeneration (BPAN) is a rare subtype of neurodegeneration with brain iron accumulation.
- Early diagnosis of BPAN is difficult due to non-specific clinical and imaging findings in children.
Purpose of the Study:
- To evaluate the diagnostic utility of serial brain MRI in pediatric BPAN patients.
- To characterize the evolution of MRI findings in genetically confirmed pediatric BPAN.
Main Methods:
- Retrospective review of clinical and MRI findings in four genetically confirmed pediatric BPAN patients.
- Quantitative susceptibility mapping (QSM) of globus pallidus (GP), substantia nigra (SN), and deep cerebellar nuclei (DCN) compared to controls.
Main Results:
- Initial MRIs often lacked specific BPAN findings; characteristic hypointensities in GP and SN emerged later (ages 2-7 years).
- Persistent T2 hyperintensity in DCN was observed in most patients.
- Quantitative susceptibility mapping showed significantly higher iron deposition in GP and SN in BPAN patients compared to controls.
Conclusions:
- Serial brain MRI, particularly susceptibility-weighted imaging and QSM, is valuable for the early diagnosis of pediatric BPAN.
- MRI findings evolve over time, providing crucial diagnostic clues when combined with genetic confirmation.
