A FORM OF JUVENILE BATTEN-DISEASE WITH GRANULAR OSMIOPHILIC DEPOSITS

The clinical, neurophysiological and pathological features of a patien t who presented with the clinical features of juvenile Batten disease, yet who had storage of granular osmiophilic deposits (GROD) on ultras tructural examination of biopsy and postmortem tissues is described. T he ultrastructural features are those usually found in the infantile f orm of Batten disease. The postmortem study showed marked neuronal sto rage of a lipofuscin-like material in an atrophic brain without loss o f myelin. The cerebellum showed almost complete loss of Purkinje cells and loss of the granule cells. No accumulation of subunit c of mitoch ondrial ATP synthase was found. The clinical and neurophysiological fi ndings 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 dise ase 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.