A 15-year old girl with slowly progressive gait and speech disorders, and with impairment of mental ability, is decsribed. The disease appeared 18 months before the first hospitalization at the Department of Neurology and Physchiatry for Children and Young People. Neurological and other examinations confirmed extrapyramidal and cerebellar signs, conspisuous knee and ankle reflexes, marked splen...

Among all inborn errors of metabolism lysosomal storage diseases occupy an important place, because they have a diverse clinical symptoms, manifest at different ages and are disguised as diseases, which makes the diagnosis these quite difficult long-term. Niemann-Pick disease, rare inherited neurodegenerative disease caused by disruption intracellular lipid metabolism, is one such disease. The ...