Does brain degeneration in Wilson disease involve not only copper but also iron accumulation?

BACKGROUND AND PURPOSE: Wilson disease (WD) is an autosomal recessive inherited disorder of hepatic copper metabolism. Clinical manifestations of WD include neurologic, hepatic and psychiatric symptoms. Most WD patients with the neuropsychiatric form, and some with the hepatic and presymptomatic forms have both hypointense and hyperintense lesions in basal ganglia on T2-weighted magnetic resonance imaging (MRI), which can be iron and copper accumulation. It has been established that T2* and susceptibility-weighted imaging (SWI) are highly sensitive in demonstrating brain iron accumulation, showing decreased signal intensity. Hypointense globus pallidus (GP) signal has been described on T2-, T2*-weighted images and on SWI as typical MRI lesion for patients with neurodegeneration with brain iron accumulation (NBIA). We investigated whether WD patients have MRI changes suggesting iron accumulation using T2*-weighted and VEN_BOLD SWI imaging protocols. MATERIAL AND METHODS: Standard MRI with additional sequences (T2*-weighted and VEN_BOLD SWI) was performed in consecutively admitted, clinically stable, and treated patients. RESULTS: Twenty-eight patients entered the study. Hypointensity in the GP was observed on T2*-weighted images in 10 pa-tients. Using the VEN_BOLD SWI technique, we found hypointense signal in GP in 20 patients. CONCLUSIONS: MRI data suggest not only copper but also iron accumulation in GP in WD patients.

[Clinical and laboratory features of mumps in hospitalized children in 2003-2004 epidemics]. / Kliniczne i laboratoryjne wykladniki swinki u dzieci hospitalizowanych w sezonie epidemicznym 2003-2004.

OBJECTIVES: The frequency and duration of hospitalization as well as symptoms and chosen laboratory tests in children with mumps hospitalized during 2003-2004 epidemics. METHODS: The inpatients records of children with mumps hospitalized from January 2003 to September 2004 at the Clinic of Pediatric Infectious Diseases in Bialystok were reviewed. RESULTS: At this time, the percentage of hospitalizations due to mumps increased from 1.6% up 34.3% in December 2003. The main cause of hospitalizations was mumps meningitis (81.4%). Children with mumps orchitis (3.4%), pancreatitis (1.9%) and mixed symptomatology i.e. meningitis with pancreatitis (2.3%) or meningitis with orchitis (1.1%) were also hospitalized. Children with pancreatitis needed the most longer time of hospitalization (16 days). The analysis of the laboratory tests revealed that serum lipase has the most diagnostic value for mumps pancreatitis and lymphocytic pleocytosis for meningitis. CONCLUSION: Mumps-associated morbidity could be limited if susceptible children population

Liver cirrhosis in patients newly diagnosed with neurological phenotype of Wilson's disease.

Wilson's disease (WD) can manifest itself in different clinical forms, the neurological and hepatic ones being the most common. It is suggested that neurological signs and psychiatric symptoms develop secondary to liver involvement. The aim of this study was to characterize the liver disease in patients newly diagnosed with the neurological form of WD. Treatment-naive patients diagnosed with WD were classified into three phenotypic groups: hepatic, neurological and pre-symptomatic. Liver involvement was ascertained through surrogate markers: abdominal ultrasound and laboratory parameters. In addition, study participants were screened for esophageal varices. Of 53 consecutively diagnosed WD patients, 23 individuals (43.4%) had a predominantly neurological presentation. In this group, cirrhosis was diagnosed in 11 (47.8%) subjects. Esophageal varices were present in all of them. In every patient with neurological WD, there was at least one sign of hepatic disease on ultrasound examination, indicating universal presence of liver involvement. The prevalence of surrogate signs of cirrhosis was similar in patients with the neurological and in those with the hepatic phenotype.