2 year old girl with mild ataxia and truncal dystonia Teaching NeuroImages Neurology Resident and Fellow Section © 2014 American Academy of Neurology

Vignette 2 year old girl with mild ataxia and occasional truncal dystonia while walking Patient had liver transplant at 7 months of age PD and FLAIR MR images at age 2 showed hyperintensities in the insular cortices, deep frontal gyri, caudate and putamen © 2014 American Academy of Neurology Nunley et al.

Imaging Nunley et al. © 2014 American Academy of Neurology

Imaging Nunley et al. © 2014 American Academy of Neurology

Carbamoyl phosphate synthetase 1 deficiency MRI findings of PD and FLAIR hyperintensities in insular and frontal cortices, caudate and putamen are seen in proximal urea cycle disorders, namely CPS-1 deficiency These specific MRI findings may provide a clue to a hyperammonemic etiology of a metabolic encephalopathy as exemplified by our case with CPS-1 deficiency Nunley et al. © 2014 American Academy of Neurology