1.
Nouv Presse Med
; 10(24): 2007-10, 1981 May 30.
Article
in French
| MEDLINE
| ID: mdl-6265863
ABSTRACT
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.