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

Introduction

see neuronal ceroid lipofuscinosis

Pathology

• ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances:
  • pure within a lysosomal residual body
  • in conjunction with curvilinear or rectilinear profiles
  • 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

More general terms

• neuronal ceroid lipofuscinosis

Database

• OMIM: https://mirror.omim.org/entry/204200