In our opinion the case is a first reported association between Wilson's disease and primary anetoderma. The possible mechanism behind this relationship is discussed.

PURPOSE: Wilson disease (WD) is an autosomal recessively inherited disorder of copper accumulation and toxicity. Its recognition is easy in the presence of typical clinical presentations. Unexplained liver test abnormalities are a diagnostic challenge and require more examinations. The objective of this study is to assess the diagnostic value of ceruloplasmin, 24-hour urine copper excretion and Leipzig scoring system in WD. MATERIAL AND METHODS: Sixty-five patients with WD (22 females and 43 males) and a control group of 17 patients with other chronic liver diseases (CLD) were analyzed. The values of the parameters of copper metabolism and Leipzig scoring system were evaluated. RESULTS: Average ceruloplasmin level was under 0,2 g/L and 24-hour urinary copper concentration was increased. D-penicillamine challenge test showed a mean value of 17,4 µmol/24 hours of urinary copper excretion in WD patients versus 5,46 µmol/24 hours in CLD ones. According to the Leipzig scoring diagnostic criteria, 58 WD patients (89,23% of the cases) presented with a score ≥4 (maximal value of 12). Score 3 was found out in seven patients, however, the exclusion of other etiology and the clinical course of the disease confirmed the diagnosis. The control subjects presented with a score ≤3 as it was ≤2 in 76,5% of the cases. CONCLUSION: Our results confirm the diagnostic value for WD of the Leipzig scoring system combined with clinical symptoms, laboratory parameters of copper metabolism, genetic testing and liver biopsy in clinical practice.

Introduction: Non-alcoholic fatty liver disease (NAFLD) is a socially significant health problem and it affects around a billion people on a global scale. NAFLD is the most common reason for liver damage worldwide and is considered the hepatic manifestation of the metabolic syndrome. Non-alcoholic fatty liver disease is generally associated with obesity and the related comorbidities, but it can also develop in subjects with a normal body mass index (BMI). This sub-phenotype of NAFLD is called lean NAFLD. Lean subjects with NAFLD have milder features of the metabolic syndrome when compared with obese patients. Nonetheless, they have a higher prevalence of metabolic alterations (e.g., dyslipidemia, arterial hypertension, insulin resistance, and diabetes) compared with healthy controls. The diagnosis of NAFLD requires the exclusion of both secondary causes and of a daily alcohol consumption ≥30 g for men and ≥20 g for women. Clinical Case: We present the clinical case of a 29-year-old man, who was admitted to the hospital because of diagnostic evaluation of ultrasound findings of severe liver steatosis accompanied with mild hepatosplenomegaly. There was no evidence of diabetes mellitus, hypertensive disease or obesity. The patient was overweight but without obesity: height -187 cm., weight -108 kg, BMI -30, waist circumference -111 cm. Laboratory examination revealed: normal blood count, normal level of CRP, AST, ALT, AF, total bilirubin, mild elevation of GGT and normal synthetic liver function tests. The lipid profile showed el-CLINICAL MEDICINE