RESUMEN
Introduction: Wilson's disease is a genetic disease characterized by excess deposition of copper in the liver, brain, cornea and kidneys. Brain damage leads to several psychiatric and neurological manifestations. However, a little research has been published about the role of anatomo-functional diagnostic modalities in the evaluation of the clinical course of the disease
Aim of the study: to evaluate and compare the role of brain MRI and Technetium-99m hexamethylpropylene-amine oxime [Tc-99m HMPAO] SPECT in assessing brain involvement in Wilson's disease and correlating these findings with the clinical presentations of the disease
Patients and Methods: eighteen patients with established Wilson's disease [10 males and 8 females] aged between 21 to 53 years were included in the study. The clinical picture was of neurologic type [nWD] in 11 patients [61.1%], and of the hepatic type [hWD] in 7 patients [38.9%]. All patients were subjected to careful general and neurological assessment, cognitive assessment using M.M.S.E scale and Trial Making test, ophthalmic slit lamp examination, biochemical tests including urinary copper and serum ceruloplasmin levels, abdominal ultrasound, liver biopsy [only in 5 patients], MRI of the brain and Tc-99m HMPAO brain SPECT
Results: brain MRI was abnormal in 11/18 patients [sensitivity 61.1 %]. It was abnormal in 9/11 nWD patients [sensitivity 81.8%], while it was positive in only 2/7 of hWD patients [sensitivity 28.6%]. Brain Tc-99m HMPAO SPECT was abnormal in 15 out of 18 patients [sensitivity 83.3%]. The scan was abnormal in 10/11 patients with nWD [sensitivity 90.9%] and in 5/7 of patients with hWD [sensitivity 71.4%]. The correlation between the clinical presentation of the disease, radiological, and SPECT findings still not clear in most cases
Conclusion: brain Tc-99m HMPAO SPECT and brain MRI are useful tools for evaluating patients with Wilson's disease. Brain SPECT has a higher sensitivity than brain MRI in detecting brain abnormalities, however the clinico-anatomical correlation still not established yet in many cases