Hepatomegaly (also known as Wilson’s disease, WD) is an autosomal recessive disorder of copper metabolism, and is one of the few genetic diseases with good therapeutic effect, if diagnosed and treated early, the prognosis is good, but if the diagnosis and treatment are delayed, the disease may develop to the end stage, and in severe cases, it may cause disability or death. The disease is caused by the mutation of the WD gene, which encodes a protein change, resulting in reduced synthesis of serum copper cyanine (CP) and impaired copper excretion from the biliary tract, resulting in the deposition of copper ions in the liver, brain (especially the basal ganglia), kidney and cornea, and the corresponding symptoms. The disease occurs in school-age children and adolescents, and is common in China, Japan, India and other Asian countries. Due to the multi-organ involvement, the clinical manifestations are diverse and may include hepatitis, cirrhosis, neurological symptoms, renal impairment, hemolytic anemia, and corneal K-F rings. The most common first symptom is liver disease in children, and the younger the age of onset, the greater the likelihood of liver disease as the only clinical manifestation. Visceral damage often precedes the appearance of neurological symptoms, and early patients often show mild or no abnormal manifestations, with only physical examination revealing varying degrees of elevated serum transaminases, with or without jaundice. However, many patients have already developed cirrhosis at the time of initial diagnosis, with the main symptoms being weakness, loss of appetite, jaundice, ascites, splenomegaly and gastrointestinal bleeding. In a few cases, fulminant liver failure occurs, and the patient’s condition progresses rapidly, often resulting in death within a short period of time. We have treated dozens of children with hepatomegaly, most of whom were previously misdiagnosed with other diseases and did not receive appropriate treatment. However, we encountered two cases of children in their late teens from rural areas who had been apparently healthy, had never undergone a health examination, and had excellent academic performance, who suddenly developed fulminant liver failure with hemolytic anemia and died within a few days. Neurological manifestations can also be the first symptoms. Early manifestations are mainly slurred speech, salivation, sluggishness, tremor, and unsteady walking, while late manifestations are mainly muscle tonicity, flexion contracture, and convulsions, but they are not common. Patients with psychiatric symptoms are often misdiagnosed as psychotic. Psychiatric symptoms may include personality abnormalities, personality changes, depression, and cognitive impairment. Many patients develop a brownish gray or brownish green pigment ring at the junction of the corneal rim and sclera, known as the corneal K-F ring, but there is no visual impairment. Proteinuria and hematuria may also be present to varying degrees, so it is often misdiagnosed as nephritis or nephropathy. Confirmation of the diagnosis of this disease relies on the detection of decreased serum copper cyanide and increased 24-hour urinary copper excretion. Therefore, any patient with unexplained liver impairment, with or without neuropsychiatric symptoms, should undergo the above-mentioned relevant tests as soon as possible. Once the diagnosis is established, the prognosis can be improved by limiting the intake of diets with high copper content (e.g. animal offal, seafood, legumes, nuts, chocolate, mushrooms, black tea, etc.) and by administering treatments such as pharmacological copper expulsion.