A form of juvenile Batten disease with granular osmiophilic deposits.
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.
Lake
B D
BD
Department of Histopathology, Great Ormond Street Hospital for Children NHS Trust, London, UK.
Brett
E M
EM
Boyd
S G
SG
D000293:Adolescent; D001253:Astrocytes / Q000473:pathology; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D003594:Cytoplasmic Granules / Q000473:pathology*; D004569:Electroencephalography; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008062:Lipofuscin / Q000378:metabolism; D008854:Microscopy, Electron; D009185:Myelin Proteins / Q000378:metabolism; D009197:Myenteric Plexus / Q000473:pathology; D009460:Neurologic Examination; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology; D009474:Neurons / Q000473:pathology; D012007:Rectum / Q000294:innervation; D013368:Submucous Plexus / Q000473:pathology
D008062:Lipofuscin; D009185:Myelin Proteins