Hepatolenticular Degeneration In Children: A Clinical Analysis Of40Cases

Objective To discuss the clinical and laboratory characteristics of40children withWilson disease (WD), so as to make early diagnosis and treatment and improve the prognosis.Methods Clinical and laboratory data，as well as imaging examination results werecollected and analyzed retrospectively.Results1. Generals: children in this group include18males (45%) and22females (55%), Themean age at diagnosis was8.15±2.93years. Of all the40cases,9patients had a history ofconsanguineous mating (parents or grandparents) and7patients had a positive family history。2. Initial symptoms:35patients were symptomatic,5patients were asymptomatic atdiagnosis. The initial manifestations were impairment of liver function (25cases), symptomsof central nervous system (1case), symptoms of other systems (9cases).17patients weremisdiagnosed at the first time.3. Clinical manifestations: gastrointestinal symptoms（62.5%）, jaundice (52.5%),splenomegaly (52.5%), hepatomegaly (50%), edema (45%), Chest tightness and fatigue(45%), neuropsychiatric symptoms（15%）, bone and joint pain (12.5%), hematuria (17.5%),bleeding tendency (7.5%), rash (2.5%).4. Auxiliary examinations: serum ceruloplasmin level was tested in37patients and itdecreased in all of them. Kayser-Fleischer ring was checked in39patients and was positive in33. Brain MRI was performed in3patients and symmetrical abnormal signal of bilateral basalganglia area was found. Kayser-Fleischer ring, AST and ALT were different in different ages(P＜0.05).5. Clinical types: hepatic,27cases (67.5%), neurologic,6cases (25%), others,7cases(17.5%). The mean age of the neurologic children is older than hepatic and others(t-test, P＜0.05).Conclusion1. Most Wilson disease in children are diagnosed during7-14years. Positive familyhistory has important significance in the diagnosis of WD.2. The main clinical manifestations of WD in children are impairment of liver function,neuropsychiatric symptoms are unusual. And the onset time of neuropsychiatric symptoms islater than others.3. The rate of K-F ring’s detection arises along with the age increasing.4. For unexplained impairment of liver function, splenomegaly and damage, skeletal andmuscle damage, bleeding tendency, rash, with or without infection, should consider thepossibility of WD.