Clinicopathological study of Refsum's disease with particular reference to fatal complications.
The clinical and pathological findings in two brothers with biochemically diagnosed Refsum's disease are given. The pathology, in general, was that already described in this condition. An unusual complication in one case was the development of renal failure. Death was caused in the other by heart failure.
D000328:Adult; D001923:Brain Chemistry; D004064:Digestive System / Q000473:pathology; D004702:Endocrine Glands / Q000473:pathology; D006801:Humans; D007668:Kidney / Q000032:analysis; D008055:Lipids / Q000032:analysis; D008198:Lymph Nodes / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009206:Myocardium / Q000032:analysis / Q000473:pathology; D009420:Nervous System / Q000473:pathology; D012035:Refsum Disease / Q000175:diagnosis / Q000473:pathology*; D013154:Spleen / Q000473:pathology; D014551:Urinary Tract / Q000473:pathology
D008055:Lipids