MULTISYSTEM TRIGLYCERIDE STORAGE DISORDER WITHOUT ICHTHYOSIS IN 2 SIBLINGS

four-year-old boy presented with hepatomegaly, vacuolized granulocytes (Jordans' anomaly) and slightly progressive myopathy as signs of mult isystem triglyceride storage disease. The nine-year-old sister of the patient also showed Jordans' anomaly and early fatigability, but no ov ert weakness. Biochemical analysis revealed normal values for carnitin es, carnitine palmityl transferase in serum and striated muscle, and P -oxidation enzymes in striated muscle. Distribution of non-membrane-bo und lipids in granulocytes, fibroblasts, smooth muscle cells and stria ted muscle was compatible with Chanarin-Dorfman syndrome. In contrast to Chanarin-Dorfman syndrome, our patients lacked congenital ichthyosi s.