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Neuroimaging in HPDL deficiency: (A) Brain MRI, T2-weighted images of a 3-month-old girl with HPDL deficiency. Images show subcortical T2-hyperintensities, mainly affecting the right frontotemporal regions. Moreover, asymmetrical signal abnormalities of the thalami are visible (white arrows). (B) No cerebellar abnormalities are visible.
