Two cases of Winchester syndrome: with increased urinary oligosaccharide excretion.
We present our findings in two unrelated patients with the characteristic clinical and radiological features of the Winchester syndrome. The histological findings in gum and skin biopsies taken from one of the subjects, indicated excessive collagen turnover (active phagocytosis, an active endoplasmic reticulum, and an abundance of fibrillogranular material of probable collagen origin). An abnormal oligosaccharide was detected in urine from both patients which was identified as a trisaccharide containing one fucose and two galactose residues. The finding of this oligosaccharide may prove a useful marker in other cases of this rare syndrome and may help elucidate the underlying biochemical defect.
Dunger
D B
DB
Hospital for Sick Children, London, UK.
Dicks-Mireaux
C
C
O'Driscoll
P
P
Lake
B
B
Ersser
R
R
Shaw
D G
DG
Grant
D B
DB
D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000378:metabolism; D003241:Consanguinity; D003286:Contracture / Q000000981:diagnostic imaging / Q000652:urine*; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000652:urine*; D005260:Female; D006801:Humans; D008201:Lymphangiectasis, Intestinal / Q000473:pathology; D009844:Oligosaccharides / Q000652:urine*; D010024:Osteoporosis / Q000000981:diagnostic imaging / Q000652:urine*; D011859:Radiography; D013577:Syndrome
D009844:Oligosaccharides; D003094:Collagen