Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Suzanne ChartierLucile BoutaudEdouard Le GuillouCaroline AlbyClarisse BillonAnne-Élodie MillischerCatherine CaillaudLouise GalmicheCharlotte MechlerPascale SonigoNathalie BoddaertStanislas LyonnetSophie RondeauChristine Bole-FeysotCecile MassonYves VillePhilippe RothIsabelle DesguerreFérechté Encha-RazaviTania Attie-BitachPublished in: Birth defects research (2021)
Congenital NCL related to CTSD mutations is a neuronal storage disorder that produces in the developing brain diffuse neurodegeneration and white matter atrophy resulting in a progressive and rapidly lethal microcephaly.