【一例wilson病的影像学表现(英文)】Wilson’s disease, also known as hepatolenticular degeneration, is a rare autosomal recessive disorder characterized by the accumulation of copper in various organs, particularly the liver and brain. Although it is a genetic condition, early diagnosis and treatment are crucial to prevent irreversible damage. This case report aims to present the imaging findings associated with Wilson’s disease, highlighting the importance of radiological evaluation in its detection and management.
The patient was a 25-year-old male who presented with progressive neurological symptoms, including tremors, difficulty in coordination, and changes in behavior. He had no significant past medical history but reported mild jaundice during childhood. On physical examination, the presence of Kayser-Fleischer rings was noted during ophthalmologic evaluation, which raised suspicion for Wilson’s disease.
To further investigate the underlying pathology, a series of imaging studies were performed. Magnetic resonance imaging (MRI) of the brain revealed hyperintense signals in the basal ganglia, particularly in the putamen and globus pallidus, on T2-weighted images. These findings are typical of Wilson’s disease and are often referred to as the "face of the tiger" sign due to the characteristic appearance of the affected areas. Additionally, there was evidence of increased signal intensity in the cerebral cortex and cerebellum, suggesting widespread neuronal involvement.
In addition to brain imaging, abdominal ultrasound and MRI of the liver showed signs of chronic liver disease, including diffuse steatosis and nodular regeneration, consistent with the hepatic manifestations of Wilson’s disease. The liver function tests were also abnormal, with elevated serum transaminases and decreased ceruloplasmin levels, further supporting the diagnosis.
The combination of clinical features, laboratory results, and imaging findings led to a definitive diagnosis of Wilson’s disease. The patient was started on chelation therapy with penicillamine and was advised to follow a low-copper diet. Subsequent imaging follow-up showed some improvement in the brain lesions, although long-term monitoring remains essential to prevent recurrence and further complications.
This case illustrates the value of imaging modalities in the diagnostic process of Wilson’s disease. While clinical and biochemical assessments are fundamental, MRI plays a key role in identifying the characteristic neurological changes. Early recognition through imaging can lead to timely intervention, significantly improving the prognosis for patients with this condition.
In conclusion, Wilson’s disease is a complex disorder that requires a multidisciplinary approach for accurate diagnosis and effective management. Radiological findings, especially those from MRI, are instrumental in guiding treatment decisions and monitoring disease progression. Continued research and awareness are essential to improve outcomes for affected individuals.
