A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients.
D000293:Adolescent; D000328:Adult; D001065:Appendix / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D001854:Bone Marrow Cells; D001855:Bone Marrow Diseases / Q000150:complications*; D001921:Brain / Q000473:pathology; D010244:Bulbar Palsy, Progressive / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism; D002855:Chromatography, Thin Layer; D004569:Electroencephalography; D005260:Female; D006529:Hepatomegaly / Q000150:complications; D006644:Histiocytes; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications*; D008099:Liver / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D009460:Neurologic Examination; D009542:Niemann-Pick Diseases / Q000473:pathology; D009759:Nystagmus, Pathologic / Q000150:complications; D009886:Ophthalmoplegia / Q000150:complications*; D010743:Phospholipids / Q000378:metabolism; D011011:Pneumoencephalography; D013109:Sphingomyelins / Q000378:metabolism*; D013154:Spleen / Q000473:pathology; D013163:Splenomegaly / Q000150:complications; D014792:Visual Acuity; D014794:Visual Fields
D010743:Phospholipids; D013109:Sphingomyelins; D002784:Cholesterol