Kamate_2012_Pediatr.Neurol_46_325

Palmitoyl protein thioesterase-1 (PPT1)-related neuronal ceroid lipofuscinosis is a type of neuronal ceroid lipofuscinosis caused by a deficiency of the enzyme palmitoyl protein thioesterase-1. Cranial magnetic resonance imaging reveals more severe atrophy in the cerebral hemispheres than in the cerebellum. The basal ganglia and particularly the thalamus demonstrate low signal intensity on T(2)-weighted images from an early age. We present three patients with PPT1-related neuronal ceroid lipofuscinosis who exhibited isolated, symmetric signal changes in the bilateral dentate nucleus as sole early neuroimaging abnormality. Neither cerebral or cerebellar atrophy nor signal changes in the thalamus/basal ganglia were evident. This neuroimaging finding in PPT1-related neuronal ceroid lipofuscinosis was not previously reported.