Abstract
Three children in a West African family had Gaucher's disease of juvenile onset (Type 3), and all showed an identical neurological disorder. The diagnosis was substantiated by histochemical demonstration of Gaucher cells in bone marrow, liver, and spleen, the finding of an excess of glucosyl ceramides in a liver extract, and a deficient activity of the enzyme beta-glucosidase in cultured skin fibroblasts. The neurological picture was characterised by myoclonic epilepsy, muscle wasting, hypotonia, pyramidal signs, some intellectual deterioration, and a striking disturbance of eye movements. The latter appears to result from specific involvement of the supranuclear pathways subserving lateral gaze. The distinctive features of this clinical syndrome are emphasised.
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- BODIAN M., LAKE B. D. THE RECTAL APPROACH TO NEUROPATHOLOGY. Br J Surg. 1963 Jul;50:702–714. doi: 10.1002/bjs.18005022507. [DOI] [PubMed] [Google Scholar]
- BRADY R. O., KANFER J. N., SHAPIRO D. METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE. Biochem Biophys Res Commun. 1965 Jan 18;18:221–225. doi: 10.1016/0006-291x(65)90743-6. [DOI] [PubMed] [Google Scholar]
- Brett E. M., Lake B. D. Reassessment of rectal approach to neuropathology in childhood: review of 307 biopsies over 11 years. Arch Dis Child. 1975 Oct;50(10):753–762. doi: 10.1136/adc.50.10.753. [DOI] [PMC free article] [PubMed] [Google Scholar]
- HERRLIN K. M., HILLBORG P. O. Neurological signs in a juvenile form of Gaucher's disease. Acta Paediatr. 1962 Mar;51:137–154. doi: 10.1111/j.1651-2227.1962.tb06522.x. [DOI] [PubMed] [Google Scholar]
- King J. O. Progressive myoclonic epilepsy due to Gaucher's disease in an adult. J Neurol Neurosurg Psychiatry. 1975 Sep;38(9):849–854. doi: 10.1136/jnnp.38.9.849. [DOI] [PMC free article] [PubMed] [Google Scholar]
- LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
- MALONEY A. F., CUMINGS J. N. A case of juvenile Gaucher's disease with intraneuronal lipid storage. J Neurol Neurosurg Psychiatry. 1960 Aug;23:207–213. doi: 10.1136/jnnp.23.3.207. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Miller J. D., McCluer R., Kanfer J. N. Gaucher's disease: neurologic disorder in adult siblings. Ann Intern Med. 1973 Jun;78(6):883–887. doi: 10.7326/0003-4819-78-6-883. [DOI] [PubMed] [Google Scholar]
- Neville B. G., Lake B. D., Stephens R., Sanders M. D. A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients. Brain. 1973;96(1):97–120. doi: 10.1093/brain/96.1.97. [DOI] [PubMed] [Google Scholar]
- Ngu J. L., Blackett K. Immunological studies in onchocerciasis in Cameroon. Trop Geogr Med. 1976 Jun;28(2):111–120. [PubMed] [Google Scholar]
- Pratt P. W., Kochwa S., Estren S. Immunoglobulin abnormalities in Gaucher's disease. Report of 16 cases. Blood. 1968 May;31(5):633–640. [PubMed] [Google Scholar]
- Smith P., Dickson J. A., Lake B. D. Rectal biopsy in the diagnosis of neurological disease in childhood. Br J Surg. 1976 Apr;63(4):313–316. doi: 10.1002/bjs.1800630415. [DOI] [PubMed] [Google Scholar]
- Young E., Willcox P., Whitfield A. E., Patrick A. D. Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells. J Med Genet. 1975 Sep;12(3):224–229. doi: 10.1136/jmg.12.3.224. [DOI] [PMC free article] [PubMed] [Google Scholar]