[Neuropathy associated with ichthyosis and splenomegaly in an adult patient. Possible relationship with altered glycosphingolipid metabolism (author's transl)].
The authors report on the case of a 40-year-old woman presenting with ichtyosiform erythroderma, central and peripheral neuropathy, splenomegaly and low serum haptoglobin levels. The patient's blood and urine contained large amounts of various ceramides polyhexoside including, in particular, a ceramide tetrahexoside containing fucose. The possibility of a new form of sphingolipidosis is discussed.
D000328:Adult; D005260:Female; D006028:Glycosphingolipids / Q000378:metabolism*; D006801:Humans; D007057:Ichthyosis / Q000150:complications*; D009138:Musculocutaneous Nerve / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000378:metabolism* / Q000473:pathology; D013106:Sphingolipidoses / Q000378:metabolism; D013163:Splenomegaly / Q000150:complications*
D006028:Glycosphingolipids
Neuropathie ichtyose et splénomégalie chez une adulte. Rappports éventuels avec une perturbation du métabolisme des glycosphingolipides.