Although most lysosomal storage disorders present in infancy or early childhood with a
progressive condition often associated with dysmorphism, considerable genetic
heterogeneity exists resulting in a range of illnesses that can include a dramatic neonatal
presentation. Whilst some conditions present with a characteristic neonatal phenotype (eg
Niemann–Pick disease type C), the remainder present in a nonspecific way often with non-
immune hydrops fetalis. Diagnosis can be helped by appropriate radiological studies and, in …