MRI and proton spectroscopy in children with late infantile neuronal ceroid lipofuscinosis: Preliminary results

Abstract

Aim of the study was to characterize findings on magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H-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 1H-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. 1H-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.

Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses

“…11 The classic neuroimaging features in brain MR imaging of NCL reported in the literature include T2-hypointense thalami, T2-hyperintense periventricular white matter, and progressive cerebral and cerebellar volume loss. [12][13][14][15][16][17][18][19] Subtype-specific imaging findings are well-described in CLN1, CLN2, CLN3, and CLN5 diseases, [20][21][22][23][24][25] with scarce literature on other subtypes. [26][27][28][29][30][31] Given the rapidly changing landscape in cell biology and translation in NCL and the need for early diagnosis facilitating early treatment, we performed a retrospective review study to investigate and expand the MR imaging features of the disease in patients with genetically confirmed NCL diagnosed at our institution.…”