The juvenile form of Niemann-Pick disease.

Open Access
Publisher Website
Google Scholar
Abstract
A girl aged 13 years at death had developed a slowly progressive neurological illness which had begun when she was 6 years old. The main signs were those of cerebellar disease. Vision was unimpaired and intellectual deterioration was not a marked feature. Epilepsy occurred late in the illness. There was no clinical evidence of visceral involvement. Cerebral biopsy revealed lipid storage in the nerve cells. At necropsy the spleen was enlarged to 180 g, and microscopically contained foam cells of Niemann-Pick type containing strongly hematoxyphil and easily soluble lipid. Chemically, the spleen showed an increased content of sphingomyelin and cholesterol. The liver, which was histologlcally unremarkable, showed increased lecithin and sphingomyelin. In the brain there was widespread swelling of the nerve cells with storage of lipid material which stained very feebly with hematoxylin. The cerebral cortex was less diffusely affected than other parts of the brain and contained large numbers of apparently normal nerve cells. Chemically, there was an increase of sphingomyelin, lecithin and cholesterol. In the cerebellum there was severe cortical atrophy with substantial loss of granule and Purkinje cells. The changes in this case were compared with those in the infantile form of Niemann-Pick disease and with other previously recorded examples of juvenile variant.