| Objectives: Reviewed the medical records of 39 cases of Wilson disease (WD) in children for clinical manifestations, auxiliary examinations, etc, to improve the diagnosis of the disease.Methods: Clinical and auxiliary examination data were collected from 39 consecutive children with WD in Children's Hospital of Chongqing Medical University from Jan,2000 to May,2010.Results:1. Generals: children in this group got 21 males (53.8%) and 18 females (46.2%), mean on-set age : 9.04±3.67 years, <3ys: 4cases(10.3%),3-6ys:4cases(10.3%),7-12ys:22cases(56.4%),>12ys:9cases(23.1%),the family history positive rate got 41.0%.2. Initial symptoms: liver damages in 20 cases (51.3%), the neurologic in 15 patients (38.4%), hematuria in 1 case (2.6%) ,Edema in 2 cases (5.1%), and hemolytic anemia in 1 case (2.6%).Clinical manifestations: gastrointestinal symptoms(59.0%), jaundice (53.8%), hepatomegaly (41.0%), liver cirrhosis (17.9%), extrapyramidal symptoms (46.2%), psychiatric symptoms (25.6%), hematuria (2.5%), edema (15.4%) , pales(15.4%), bleeding tendency (23.1%), bone and joint pain (7.7%), etc; Psychiatric symptoms in different ages was different (Fisher test: P <0.05).Clinical types: hepatic,16 cases (41.0%); neurologic,12 cases (30.8%); hepatic-neurologic,3 cases (7.7%), others,8 cases (20.5%), including asymptomatic in 4 cases (10.3%), renal damages in 3 cases (7.7%), blood system damages in 1 case (2.6%). Other type got smaller average age of onset than the neuronal and liver types. (t test, P <0.05).3.Auxiliary examinations:1) Serum ceruloplasmin levels were decreased in 36 of 38 cases(94.7%); averages:0.134±0.083g/l, Where≤0.08 g / l in 8 patients,0.09-0 .147 g / l in 28 cases.2) Kayser-Fleischer (KF) rings were seen in 28 of 35 cases (80.0%); the distribution of KF ring in different ages was different. (Fisher test: P <0.05), KF ring is related with ages (Logistic regression, r = 0.053, P <0.05).3) Images: CT or MRI suggest abnormalities in 15 of 20 cases (75.0%), of which 15 cases got symmetrical basal ganglia lesions (100%); Abdominal ultrasound suggest abnormalities in 33 of 38 cases (86.8%).4) Liver biopsy suggest abnormalities in 9 of 9 cases, showing early changes in 5 cases, 2 cases of the mid and late in 2 patients.4. Misdiagnosis: 9 cases in this group were misdiagnosised at the time of admission, misdiagnosis rate was 23.1%, which was misdiagnosed as nephritis in 3 cases, 1 as hemolytic anemia, 3 as hepatitis, 1 as viral encephalitis, and 1 as myositis. Comparison misdiagnosis rate in hepatic, neurologic, hepatic-neurologic, and others: Fisher test, P <0.05. Conclusion:1. Wilson disease in Children occurs in 7-12yrs, positive family history got important significance in the diagnosis of WD.2. The clinical manifestations of WD in children are varied and challenging, it may have liver, brain, eyes, kidneys, bones and joints, blood and other tissues and organs involved, liver or brain dysfunctions were the main initial features. In the early term, it may come out asymptomatic ,or only got liver damages, kidney damages, or blood system damages.3. Serum ceruloplasmin and KF rings have important value for diagnosis of WD, KF ring detection rate increases by age, Symmetrical abnormal signal in basal ganglia on Cranial CT or MRI is the relative characteristic changes of WD; For liver damages or hepatic features, abdominal ultrasound have more meaningful on the assessment of conditions;Liver biopsy has important value in early diagnosis of WD, condition and prognosis.4. For unexplained liver damage, neurological symptoms, hemolytic anemia, kidney damage in children should be alert to WD, timely screening for determination of serum ceruloplasmin and corneal KF ring check, in order to reduce misdiagnosis. |
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