Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011570 (depression)
 172,036 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To compare transcranial sonography (TCS) findings in patients with predominantly neurological Wilson's disease (WD) to those from controls, and to correlate TCS data with the clinical profile of WD. Patients with WD (n=40/f=18) and healthy, matched controls (n=49/f=20) were assessed in terms of TCS, serum copper and iron parameters, and clinical scales, such as the Unified Wilson's Disease Rating Scale (UWDRS), Addenbrooke's Cognitive Examination-Revised (ACE-R), Mini Mental State Examination (MMSE), and Beck Depression Inventory. Lenticular nuclei and substantia nigra echogenic area cut-off values clearly differentiated WD patients from controls (area under the curve: 95.4% and 79.4%). Substantia nigra echogenic area was significantly larger in male than in female patients (p=0.001). Compared with controls, patients showed hyperechogenicity also in thalami and midbrain tegmentum/tectum; third ventricle width was increased and midbrain axial area was reduced. In the WD group, male gender correlated with substantia nigra echogenic area (r=0.515, p=0.0007) and serum ferritin levels (r=0.479, p=0.002); lenticular nuclei hyperechogenicity correlated with dystonia (r=0.326, p=0.04) and dysarthria (r=0.334, p=0.035); third ventricle width correlated with dystonia (r=0.439 p=0.005), dysarthria (r=0.449, p=0.004), parkinsonism (r=0.527, p<0.001), UWDRS neurological and total scores (both r=0.504, p=0.0009), MMSE (r=-0.496, p=0.001), and ACE-R (r=-0.534, p=0.0004). Lenticular nuclei echogenic area allowed highly accurate discrimination between patients and controls. The gender differences in substantia nigra echogenicity and iron metabolism are of interest in further studies in WD. TCS reflects different dimensions of WD pathology clearly differentiable from healthy controls and correlating with various clinical characteristics of WD.
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PMID:Quantitative transcranial sonography in Wilson's disease and healthy controls: Cut-off values and functional correlates. 2940 16

Wilson's disease (WD) is a rare autosomal recessive disease due to copper metabolism disturbance. The clinical presentation spectrum of Wilson's disease is wide and initial findings of the disease depend on the organ involved. Neurologic disorders can develop insidiously or precipitously with intention tremor, dysarthria, rigid dystonia, Parkinsonism, deterioration in school performance or behavioral changes. This article is presenting an 11-yr old boy with chief complaint of falling and upper limb spasm. He referred to the Neurology Department, Ghaem Hospital, Mashhad, northeastern Iran in 2016. His symptoms began from 6 months earlier as mood instability (prolonged spontaneous crying). He was also suffering from occasionally tremor and micrographia. Initial investigations were normal and with diagnosis of depression and psychiatric problems, he had undergone treatment with fluoxetine and risperidone. Wilson's disease should be considered in the diagnosis of all children with psychiatric and musculoskeletal symptoms.
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PMID:Psychological Signs as the Only Presentation of Wilson's Disease in an 11-Year-Old Boy. 2969 53

Wilson's disease is an inherited autosomal-recessive disorder of biliary copper excretion. It is characterized by hepatic, neurological and ophthalmic manifestations related to the accumulation of copper in the liver, the lenticular nuclei of brain and cornea. The authors present the case of a 29-year-old female with primarily depression manifestation of Wilson's disease. The patient also reported agitation, difficulties with concentration, slowdown of speech, and stuttering. In magnetic resonance imaging, in putamen, the globus pallidus, claustrum, the heads of caudate nucleus and thalamus areas demonstrated the increased signal in T2. A high copper content was obtained in daily urine collection and reduced level in serum. Similarly, ceruloplasmin level was decreased. Despite the antidepressant treatment with venlafaxine, no improvement was observed. Within a week of psychomotor slowdown, symptoms such as Parkinson's syndrome appeared. Due to the rapid progression of the disease symptoms, the patient was referred for further treatment at a specialistic center. After six month, despite the treatment, the progress of disease was so advanced that patient was transferred to the hospice. Two weeks later patient died. Wilson's disease might be consider in differential diagnosis of depression in young patients, especially if they present additional extrapyramidal symptoms and unspecific changes in magnetic resonance imaging.
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PMID:Primarily depression manifestation of Wilson's disease-Case report. 3189 89


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