Fig. 1.

UCL468 proband sample image of: (a) buffy coat lymphocyte with a discrete, membrane bound, lipopigment storage inclusion and (b) high power image demonstrating the fingerprint profile of the storage material. UCL468 sibling foetus chorionic villus sample image of: (c) subtrophoblastic blood vessel endothelial cell with three storage inclusions that are amorphous, and of medium electron density with occasional stacks of lamellae, and (d) fibroblast with three membrane bound inclusions. (e) High power image of inclusions with lamellae identified in various foetal tissues (14 weeks) including the CNS.