neuronal ceroid lipofuscinosis 3 (Batten disease, Batten-Mayou disease)

see neuronal ceroid lipofuscinosis Pathology: - ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: a) pure within a lysosomal residual body b) in conjunction with curvilinear or rectilinear profiles c) as a small component within large membrane-bound lysosomal vacuoles - the combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 Genetics: - associated with defects in CLN3 Laboratory: - CLN3 gene exon 7+8 deletion

Properties

ACCUMULATION: lipofuscin ceroid

References

OMIM :accession 204200