PP03.11 – 2507: Cerebral MRI changes in patients with Niemann Pick type C

Objective Niemann Pick Type C (NPC) is a rare autosomal-recessive, lysosomal disorder. The diagnosis is often delayed because of non-specific first clinical symptoms and the lack of easily accessible biomarkers. There are no systematic descriptions of MRI in NPC of infantile and juvenile onset. Methods We collected 30 MRI-brain-scans from 18 patients with NPC. We established a scoring-system for MRI in NPC which addresses white-matter-changes (4 points for periventricular and central involvement in the frontal and par.-occ. lobes) and supra- (3 points for enlargement of internal, external spaces and thin corpus callosum) as well as infratentorial atrophy (3 points for mild, severe vermis atrophy and hemispheric atrophy). MRIs were evaluated in 4 age groups: early infantile ≤2 yrs, infantile 2–6 yrs, juvenile 6–15 yrs, adult >15 yrs. Results White-matter-changes were found in nearly every patient. Localization was occipital and central early in the disease which then extended to more periventricular and frontal changes. Atrophy was the characteristic feature in all patients. In both infantile groups (10 scans) supratentorial atrophy was predominant, also during disease course of up to 6 years. Whereas juvenile patients (8 scans) were more characterized by infratentorial atrophy and the adult group (12 scans) showed a combination of infratentorial and supratentorial atrophy even early during disease course. Conclusion For the first time we show systematic descriptions of MRI in infantile and juvenile patients with NPC in comparison to patients with adult onset. Subtle white-matter-changes were a common and early finding, but atrophy seems to be the more distinct feature. It was seen early during disease course clearly differing between the age groups. Early onset (