Rationale: Wilson disease is an autosomal recessive genetic disease found by Samuel Alexander Kinnier Wilson and prevalent in childhood and adolescents.
Patient concerns: An 18-year-old female patient presented to our hospital with a continuous decrease of 3 blood cell lines for more than 10 days, and diagnosed as decompensated cirrhosis. Ultrasonography showed diffuse lesions in the hepatic parenchyma, with multiple hypoechoic light masses in the parenchyma, the outline was still clear, and the internal echo was uneven. Contrast-enhanced ultrasound showed that the nodules were enhanced rapidly and uniformly, with an initial enhancement time of 9 seconds and a peak time of 17.2 seconds. The washing time was slightly earlier than that of the hepatic parenchyma and showed slightly higher enhancement in the delayed phase. Finally, ultrasound-guided biopsies showed unexplained liver cirrhosis.
Diagnoses: Combined with clinical examination, it was inferred to be Wilson disease. It is difficult to diagnose hepatolenticular degeneration because of its concealed incidence, complex clinical manifestations, expensive detection of the ATP7B gene, and lack of other specific imaging signs.
Outcomes: After admission, the patient was given symptomatic support treatment such as liver protection.
Interventions: The patient was discharged after improvement of symptoms.
Lessons: Here, the results of contrast-enhanced ultrasound in our case may provide a new idea for the diagnosis of Wilson.
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