ABSTRACT
Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms. Initial diagnostic discrimination of these two rare lysosomal storage diseases is thus difficult. As sphingomyelin accumulates in ASMd as well as NPC, lysosphingomyelin (sphingosylphosphorylcholine) and its m/z 509 analog were suggested as biomarkers for both diseases. Herein we present results of simultaneous LC-ESI-MS/MS measurements of lysosphingomyelin and lysosphingomyelin 509 in plasma and dried blood spots (DBS) collected from ASMd and NPC patients and suggest that the plasma but not DBS levels of the two analytes allow differential biochemical screening of ASMd and NPC.
Subject(s)
Biomarkers/blood , Niemann-Pick Disease, Type A/blood , Niemann-Pick Disease, Type B/blood , Niemann-Pick Disease, Type C/blood , Phosphorylcholine/analogs & derivatives , Sphingosine/analogs & derivatives , Case-Control Studies , Chromatography, Liquid/methods , Dried Blood Spot Testing/methods , Humans , Niemann-Pick Disease, Type A/diagnosis , Niemann-Pick Disease, Type B/diagnosis , Niemann-Pick Disease, Type C/diagnosis , Phosphorylcholine/blood , Spectrometry, Mass, Electrospray Ionization/methods , Sphingosine/blood , Tandem Mass Spectrometry/methodsABSTRACT
The authors describe the case of a 50-year old patient with a hypertension, who was sterile and obese. She presented with the clinical diagnosis of "malignant corporal polyp". On microscopical examination we found an endometroid adenocarcinoma of the endometrium with focal squamous differentiation associated with bilateral stromal hyperthecosis of the ovaries. Stromal hyperthecosis of the ovaries is often associated with oestrogen and androgen hypersecretion (virilismus), obesity and hypertension. Owing to these well known features we assume that the endometroid adenocarcinoma of the uterus was caused by ovarian hyperthecosis.