Orecchia L, Signorile G, Pezzano A, Bianco R, Iavarone A, Stradoni P, De Sario P N
Divisione di Pediatria, Ospedale Maria Vittoria, Torino.
Minerva Pediatr. 1992 Oct;44(10):491-5.
The Authors describe two monochorionic twins affected by Niemann-Pick disease type C with a clinical picture beginning in the neonatal age and with a progressive mental deterioration, loss of speech and spasticity started at 30 months. The importance of cultured skin fibroblasts is emphasized. The evidence of a defective intracellular cholesterol esterification is established as an intrinsic feature of Niemann-Pick disease type C.
