[Niemann-Pick disease type C in monozygotic twins].
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.
Orecchia
L
L
Divisione di Pediatria, Ospedale Maria Vittoria, Torino.
Signorile
G
G
Pezzano
A
A
Bianco
R
R
Iavarone
A
A
Stradoni
P
P
De Sario
P N
PN
D002478:Cells, Cultured; D002675:Child, Preschool; D004200:Diseases in Twins / Q000175:diagnosis*; D005260:Female; D005347:Fibroblasts; D006801:Humans; D009542:Niemann-Pick Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D014430:Twins, Monozygotic / Q000235:genetics*
La malattia di Niemann-Pick di tipo C in gemelle monocoriali.