Arthropathy of Lowe's (oculocerebrorenal) syndrome.
We describe 3 children with Lowe's syndrome who developed joint manifestations--a previously rarely recognized feature. Two children had swelling and contractures of large and small joints; the third child had a small joint effusion and hypermobile joints. None of them had antinuclear antibody or rheumatoid factor; synovial effusions and biopsies showed no evidence of inflammatory cell infiltration. By light microscopy, profuse fibrous tissue and sparse synovial lining cells were found. Electron microscopy of the synovium of 2 patients showed large amounts of normal appearing collagen, unidentified thin fibrils, and focal profuse granular and fibrillar basement membrane-like material around small vessels, similar to findings described in other tissues in this syndrome. Whether these clinical and pathologic findings are results of the still incompletely understood basic metabolic defect or not, they should be recognized as features that may be seen in patients with Lowe's syndrome.
D000293:Adolescent; D000328:Adult; D005384:Finger Joint / Q000000981:diagnostic imaging; D006801:Humans; D007592:Joint Diseases / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D007719:Knee Joint; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000150:complications* / Q000235:genetics; D011859:Radiography; D015499:Renal Tubular Transport, Inborn Errors / Q000150:complications*; D013583:Synovial Membrane / Q000473:pathology / Q000648:ultrastructure