| Title : Multisystem triglyceride storage disorder without ichthyosis in two siblings - Wessalowski_1994_Acta.Paediatr_83_93 |
| Author(s) : Wessalowski R , Schroten H , Neuen-Jacob E , Reichmann H , Melnik BC , Lenard HG , Voit T |
| Ref : Acta Paediatr , 83 :93 , 1994 |
|
Abstract :
A four-year-old boy presented with hepatomegaly, vacuolized granulocytes (Jordans' anomaly) and slightly progressive myopathy as signs of multisystem triglyceride storage disease. The nine-year-old sister of the patient also showed Jordans' anomaly and early fatigability, but no overt weakness. Biochemical analysis revealed normal values for carnitines, carnitine palmityl transferase in serum and striated muscle, and beta-oxidation enzymes in striated muscles. Distribution of non-membrane-bound lipids in granulocytes, fibroblasts, smooth muscle cells and striated muscle was compatible with Chanarin-Dorfman syndrome. In contrast to Chanarin-Dorfman syndrome, our patients lacked congenital ichthyosis. |
| PubMedSearch : Wessalowski_1994_Acta.Paediatr_83_93 |
| PubMedID: 8193482 |
| Disease | Chanarin-Dorfman syndrome |
Wessalowski R, Schroten H, Neuen-Jacob E, Reichmann H, Melnik BC, Lenard HG, Voit T (1994)
Multisystem triglyceride storage disorder without ichthyosis in two siblings
Acta Paediatr
83 :93
Wessalowski R, Schroten H, Neuen-Jacob E, Reichmann H, Melnik BC, Lenard HG, Voit T (1994)
Acta Paediatr
83 :93