Juvenile dystonic lipidosis
- 1 January 1977
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 27 (1), 32
- https://doi.org/10.1212/wnl.27.1.32
Abstract
Article abstract An unusual neurovisceral lipid storage disorder in two unrelated juvenile patients manifested itself by dystonia and involuntary movements, with facial grimacing, dysarthria, gait difficulty, and impaired manual dexterity. Supranuclear paresis of vertical gaze and splenomegaly were present. Absent were seizures, major intellectual deterioration, spasticity, or blindness. Histiocytes showed lysosomal storage of various phospholipids, cholesterol, neutral lipids, and autofluorescent material. Appendiceal neurons showed only an increase of phospholipids by histochemistry. Neuronal deposits differed ultrastructurally from these in histiocytes. Leukocyte sphingomyelinase activity was normal. The nosology of this disease and its relationship to so-called juvenile types of Niemann-Pick disease is discussed. The primaly metabolic defect in these patients remains unknown.This publication has 2 references indexed in Scilit:
- Accumulation of a glycerolphospholipid in classical niemann‐pick diseaseLipids, 1968
- Histological and chemical findings in juvenile Niemann-Pick diseaseJournal of the Neurological Sciences, 1967