Abstract: Aim of the study was to characterize findings on magnetic resonance
imaging (MRI) and proton magnetic resonance
spectroscopy (^{1}H-MRS) in children with late infantile
neuronal ceroid lipofuscinosis (NCL) and the relationship between these results
and duration of the disorder. Three children with late infantile NCL and six
age-matched controls were examined with MRI and by localized
^{1}H-MRS. Voxel regions studied were periventricular
frontal white matter, thalami and cerebellar deep white matter.
N-acetylaspartate/creatine (NAA/Cr) and choline/creatine (Cho/Cr) ratio was
calculated. MRI showed various degrees of cortical atrophy and increased
periventricular white matter signal intensity on T2- and -fluid attenuated
inversion recovery-weighted images. There was no significant volume loss in the
brainstem. Metabolic ratio (NAA/Cr and Cho/Cr) showed progressive decrease with
longer disease duration in thalamic and cerebellar voxels and exhibited a
negative relationship in frontal voxels. In conclusion, the most significant
changes on neuroimaging in late infantile NCL are progressive cortical and
cerebellar atrophy, which are more pronounced in the cerebellum. Decreased
signal intensity in the thalami may also be observed as in other forms of NCL.
^{1}H-MRS is the most sensitive method for measuring
metabolic changes. The decreased level of NAA although not specific, may still
contribute significantly to the diagnosis of late infantile NCL.
Keywords: Magnetic resonance imaging, lipofuscinosis, late infantile
