Leukocyte Abnormalities in Familial Amaurotic Idiocy
- 6 January 1966
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 274 (1) , 36-38
- https://doi.org/10.1056/nejm196601062740107
Abstract
A SYSTEMATIC search for morphologic abnormalities in the peripheral blood elements of patients with diffuse degenerative diseases of the brain has resulted in the discovery of abnormal granules in the leukocytes of several patients with familial amaurotic idiocy. Their parents, some of their siblings and other blood relatives displayed the same abnormality. The implications of these findings will be discussed.The terminology of this condition is confused, and the nosologic position of its various forms is conjectural. Table 1 clarifies the problem and shows how the various names are used in this paper.Materials and MethodsPeripheral blood smears on cover slips . . .This publication has 4 references indexed in Scilit:
- ELECTRON MICROSCOPY OF TWO CEREBRAL, BIOPSIES IN GARGOYLISMJournal of Neuropathology and Experimental Neurology, 1965
- Congenital Amaurotic IdiocyActa Paediatrica, 1965
- A clinical, pathological, and genetic study of an unusual form of Tay-Sachs disease with macular degeneration in the familyJournal of Neurology, Neurosurgery & Psychiatry, 1964
- Hereditary Granulation Anomaly of the Leucocytes (Alder)Acta Medica Scandinavica, 1947