CLINICAL-FEATURES OF NIEMANN-PICK DISEASE TYPE-C - AN EXAMPLE OF THE DELAYED-ONSET, SLOWLY PROGRESSIVE PHENOTYPE AND AN OVERVIEW OF RECENT LITERATURE

Analysis of recent literature on Niemann-Pick disease type C (NPC) rev eals a broad clinical spectrum with diverse neurological manifestation s. Diagnosis and assessment are discussed. We present a case with symp tomatology that is in concordance with a specific phenotype. The major clinical features are highlighted in a review of recently published c ases. NPC could be underdiagnosed and we argue that in the work-up of progressive neurological disorders NPC should be seriously considered, at all ages, whenever there is any combination of visceromegaly, psyc homotor deterioration, ataxia, vertical gaze disturbances or developme ntal delay. The Filipine staining of fibroblasts is a helpful asset in the diagnostic process, to be concluded with the detection of defecti ve intracellular cholesterol esterification.