Clinical features and the ocular manifestation of Wilson disease

Abstract

Objective The manifestations and ocular signs and diagnostic criteria of Wilson's disease were analyzed.Methods The clinical manifestations and diagnostic criteria of 143 Wilson's cases were ana- lyzed retrospectively.Results The mean age of 143 Wilson's cases at diagnosis of 16.09+/-10.77 years(1～51 years);86 patients (60.14%)were under age of 15;The overall positive rate of family history was 31.47% (45/143).69 of 143 (48.2%)cases were misdiagnosed,mostly as the hepatitis and liver cirrhosis.The patients with neurological symptoms were significantly older at the onset of symptoms than patients with hepatic symp- toms (23.04±9.86 v 10.90±6.26 years ofage,t=-8.206,P<0.01),with 46.85% of hepatic and 37.06% of neurological symptoms.The positive rate of GOT, BUN, serum caeruloplasmin, 24-h urinary copper excretion, serum copper,copper oxidase absorbency were reached at 64.46 % (78/121),27.27 % (18/66),94.12% (32/34), 100%(50/50), 92.68%(38/41), 90.30%(121/134), respectively.95 of 101 cases (94.06%)showed an ultrasonographical abnormality of abdomen, as well as 67.65%(23/34)of abnormal brain CT, 74.29%(26/35)of abnormal brain MRI and 68.42% (26/38)abnormal bone X-ray,respectively.The overall positive rate of Kayser-Fleischer rings was 90.71%(127/140).Those patients with neurological symptoms presented a signifi- cantly higher positive rate than that of cases with hepatic symptoms (97.96% v 86.57%,x2=4.972,P<0.05). Conclusions The Wilson's disease often affected the youths initially whom usually showed a hepatic and neu- rological disorders that might lead to misdiagnosis.Kayser-Fleischer rings and swnflower cataract are maialy oc-ular sighs of uilson clisease.The fractionate size of kayser-Fleischer rings correlated with the age of onset an dthecourse of disease.Hepatic presentation and neurological presentation were mainly general manif e stations.Ul- trasonographical examination of abdomen can provide clinical evidences at the very early stage of disease,while the brain CT and MRI could be of significance to the location,extent and degree of focal lesion.The tests of serum caeruloplasmin, 24-h urinary copper excretion and serum copper were proved to be specific importantto the diagnosis of Wilson's, especially to that with atypical symptoms or symptomless. Key words: Wilson's disease; Copper metabolism; Kayser-Fleischer rings