Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C
Niemann-Pick disease Type C (NPC) is a rare autosomal recessive neurovisceral lysosomal disorder.Perinatal and early infantile onset NPC are the most severe types of the disease.Early infantile type is characterized by a rapidly Jar Set progressive neurodegenerative course, which entails significant morbidity and usually results in death within 5 y