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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.

Krabbe disease has characteristic findings on brain magnetic resonance imaging (MRI) according to age of clinical onset. MRI-negative Krabbe disease has not been reported in early-onset cases. We present the serial clinical and MRI of brain findings in a case of early-onset Krabbe disease with proven enzyme deficiency. Despite clinical progression, the MRI findings of the child remained normal over a period of 15 months.

Acute cerebellitis constitutes a clinically isolated syndrome, and is a frequent condition in childhood, with either viral or autoimmune etiologies. The disease is reported to run a variable course, and is usually benign. Acute cerebellitis with cerebellar swelling, hydrocephalus, and brainstem compression is an exceptional but life-threatening condition. We report a 9-year-old boy in whom death resulted from acute fulminant cerebellitis because of brainstem involvement. Serial computed tomography and magnetic resonance imaging demonstrated rapid progression of the disease. The etiologies, clinical course, and therapeutic interventions regarding this potentially life-threatening condition are briefly reviewed.

Krabbe disease has characteristic findings on brain magnetic resonance imaging (MRI) according to age at clinical onset. Knowledge of the characteristic brain MRI findings contributes to rapid and specific diagnosis of Krabbe disease in the proper clinical setting. In the early-onset form of Krabbe disease, the leading imaging findings are signal abnormalities within cerebellar white matter, the deep gray nuclei, parieto-occipital white matter, and corpus callosum, and the pyramidal tract. In late-onset disease, MRI is characterized by signal abnormalities within the pyramidal tract, posterior corpus callosum, and parietooccipital white matter [1]. Although cases of Krabbe diseasewith selective involvement of corticospinal tract only have been reported in adults, case reports of children with predominant involvement of corticospinal tracts have been very few [1-3]. We present the case of a 2-year-old boy with late infantile onset Krabbe disease with proven enzyme deficiency and predominant involvement of corticospinal tracts on MRI as the initial feature without other characteristic features of Krabbe disease.