The clinical, neurophysiological and pathological features of a patient who presented
with the clinical features of juvenile Batten disease, yet who had storage of granular osmiophilic deposits (GROD) on ultrastructural
examination of biopsy and postmortem tissues is described. The ultrastructural features
are those usually found in the infantile form of Batten disease. The postmortem study showed marked neuronal storage of a lipofuscin-like
material in an atrophic brain without loss of myelin. The cerebellum showed almost
complete loss of Purkinje cells and loss of the granule cells. No accumulation of subunit c of mitochondrial
ATP synthase was found. The clinical and neurophysiological findings are compared
with those of the classical juvenile form and with those of the few reported cases
of juvenile Batten disease with GROD. The importance of correct classification of patients with Batten disease and its impact on the molecular genetic studies is emphasised. The pathogenesis
of this form of the disease is considered to be similar to that for infantile Batten disease.
Batten disease - Neuronal ceroid lipofuscinosis - Granular osmiophilic deposits (GROD), juvenile
