OBJECTIVES: The METHODS: Serial MRI of the brain, chest, abdomen, and pelvis
I-123 MIBG scintigraphy
long-term video-EEG
infectious disease screening
and trio-exome sequencing were performed, and urine levels of vanillylmandelic and homovanillic acids were measured. Ataxia and cerebellar symptoms were assessed using the SARA and Mitchell-Pike OMS scales. A PubMed and SCOPUS search for RESULTS: The de novo pathogenic variant in the DISCUSSION: Our findings point to a possible causal relationship between the