Abstract
Morphologic pathology in NCL is marked by two processes, the interaction of which
has not yet been completely clarified: 1) degeneration of nerve cells, foremost in
the cerebral cortex, resulting in considerable cerebral atrophy in early childhood
forms, likely responsible for clinical and neuroradiological findings; 2) widespread
accumulation of auto-fluorescent lysosomal lipopigments of varying ultrastructure,
the demonstration of which is still largely responsible for diagnostic recognition
of an individual patient's NCL. Numerous tissues and organs are available for biopsy,
among them brain (historical), rectum (still favoured by some), skeletal muscle and
peripheral nerves (largely by coincidence or "mistake"), skin and conjunctiva (the
latter inferior to former in diagnostic yield) and, most easily retrievable, circulating
lymphocytes. The distinct ultrastructure in the circulating lymphocytes permits a
close cliniconeuropathological correlation which may only be surpassed by future genetic
results. Diagnostic morphology of NCL variants and adult NCL, however, is still problematic,
the former concerning autopsy studies of the brain, the latter concerning extracerebral
biopsies.
Key words
Neuronal ceroid lipofuscinosis - Lipopigments - Cell death - Ultrastructure - Diagnosis
