The impact of MRI findings in the liver in the diagnosis of pediatric Wilson’s disease

Öz

Background /Aim: Wilson's Disease (WD) is one of the genetic diseases that can be successfully managed with early diagnosis and treatment. There is no single test used in its diagnosis; therefore, the diagnosis is made by laboratory and clinical findings, as well as genetic analysis results. This study aimed to describe the magnetic resonance imaging (MRI) findings in the livers of pediatric patients with WD and evaluate the relationship between serum ceruloplasmin, 24-hour urinary copper values, and MRI findings. Methods: A total of 35 patients with WD younger than 18 years of age were included in this cohort study. Qualitative and quantitative parameters were evaluated in MRI. The qualitative parameters included parenchymal nodule, contour irregularity, honeycomb pattern, ascites, and increased periportal thickness. The quantitative parameters were splenomegaly and the ratio of the caudate lobe to the right lobe (CL/RL). All patients were classified according to the absence or presence of qualitative and quantitative parameters on MRI. The serum ceruloplasmin levels and 24-hour urinary copper values were evaluated according to the scoring system developed at the Eighth International Meeting on Wilson disease in Leipzig, in 2001. All qualitative and quantitative MRI findings were compared among patients with high and low serum ceruloplasmin levels and 24-hour urinary copper values. Results: Ascites and splenomegaly were the most common findings, seen in 17 (48.6%) and 19 (52.7%) patients, respectively. Twenty-eight (80%) patients had normal caudate-lobe to the right-lobe (CL/RL) ratio in MRI. The serum ceruloplasmin levels in patients with parenchymal nodules, irregular liver contours, ascites in the abdomen, increased periportal thickness and splenomegaly were significantly lower than those without these findings (P<0.05). The 24-hour urinary copper values in patients with ascites and increased periportal thickness were significantly higher than in those without (P<0.05). Conclusion: In case of nonspecific liver MRI findings such as parenchymal nodules, irregular liver contours, ascites in the abdomen, increased periportal thickness, and a normal caudate to right-lobe (CL/RL) ratio in a pediatric patient with decreased serum ceruloplasmin and increased 24-hour urinary copper values, WD should be considered among the causes of chronic liver disease.

Anahtar Kelimeler

• Wilson disease
• Magnetic resonance imaging
• Liver
• Ceruloplasmin

Kaynakça

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