1153 - Beta-propeller protein-associated neurodegeneration with non-specific initial MRI

Case Diagnosis: We report a case of a 14-year-old child presenting unexplained developmental delay, whose initial brain MRI evaluation did not reveal any abnormal findings.

Case Description: A 14-year-old girl was born at 40 weeks. She showed global developmental delay and started independent walking at 2 years of age. At 4 years of age, she showed spastic gait pattern. She was unable to speak any words due to language delay but hearing impairment was not suspected. Whole Exome Sequencing performed during outpatient follow-up identified an abnormality in the SPHKAPS gene, but no clinical significance was confirmed. Additional TRIO testing did not show abnormal finding. Her gait disturbance did not improve with age. On physical examination, there was no apparent muscle weakness even grossly checked due to poor cooperation. In 2023 brain MRI was performed to evaluate the progression of neurodegenerative symptoms, revealing abnormal iron accumulation at both substantia nigra and globus pallidus. In collaboration with the neurology department, additional genetic testing was conducted, confirming a mutation in the WDR45 gene and she was finally diagnosed as BPAN.



Discussions: 14-year-old girl with developmental delay and abnormal gait patterns of unknown etiology from childhood was diagnosed as BPAN at 14-year-old. Due to the rarity and diverse symptoms of BPAN, it can often be underdiagnosed. In the early stages of the disease, brain MRI may show nonspecific changes, which is why it is important to consider the possibility of BPAN in children with developmental delay.

Conclusions: To confirm the presence of iron accumulation and assess for BPAN, a follow-up MRI, such as an MRI with susceptibility-weighted imaging (SWI), should be performed. Additionally, genetic testing is crucial for a definitive diagnosis. By combining the findings from imaging and genetic testing, it becomes possible to confirm the presence of BPAN and provide appropriate management and care for the individual.