Wilson's disease: Brain MRI, Tc-99m HMPAO SPECT and clinical correlation

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

Cognitive impairment in a sample of SLD primary school students

Is to assess quantitative and qualitative cognitive impairment in a sample of Egyptian SLD children and the associated psychiatric disorders. Forty children with Specific Learning Disability [SLD] were randomly selected [20 from private school, 20 from governmental school] in Cairo governorate grade 4 and 5 primary school and another 40 students free of any learning problem from same school and same educational level, were selected as NLD group. IQ testing, socioeconomic status, complete psychological and physical examination were done. Luria Nebraska Neuropsychological Battery for Children [LNNB-C] were applied for both groups. Positive history of physical abuse [p=0.0001] and family history of Mental Retardation [MR] [p=0.02] as well as psychiatric disorder in the form of ADD, conduct disorder, oppositional disorder, psychosomatic and speech disorder were significantly higher in SLD. There was a high statistical significant difference between SLD and the non learning disabled [NLD] group in all-quantitative cognitive measures of LNNBC. Qualitative cognitive assessment shows significantly high differences in SLD group concerning motor function category, sustained performance, self monitoring categories, visual spatial categories, expressive language categories, receptive language categories and dysarthria. Both quantitative and qualitative cognitive function are markedly impaired in SLD. LNNB-C helps to localize the areas of local brain impairment in SLD. Early special intervention for better outcome and management of this group is recommended