Midline brain anomalies and schizophrenia in people with CATCH 22 syndrome

1998 ◽  
Vol 172 (6) ◽  
pp. 518-520 ◽  
Author(s):  
R. Vataja ◽  
Eero Elomaa

BackgroundSince people with chromosome 22q11 deletion (CATCH 22 syndrome) have unexpectedly high incidence of major psychosis it has been suggested that 22q area might be involved in the pathogenesis of schizophrenia and bipolar disorders.MethodA single case report.ResultsA 32-year-old male patient with CATCH 22 syndrome and schizophrenia had extensive midline anomalies of the brain in the regions relevant to psychotic disorders.Conclusions22q11-dependent abnormalities in the midline structures of the brain may cause dysfunction in the limbic system and interfere with the interhemispheric information exchange thus predisposing people with CATCH 22 syndrome to psychotic disorders.

2000 ◽  
Vol 6 (3) ◽  
pp. 186-191 ◽  
Author(s):  
Anthony Feinstein ◽  
Brian Levine ◽  
Andrea Protzner

Background: Fantastic confabulation in the context of Multiple Sclerosis (MS) has not previously been reported in the literature. The association is of interest because clearly demonstrable brain pathology in MS together with other cognitive and behavioural correlates may further our understanding of the neural basis underlying confabulation. Methods: A single case report with magnetic resonance imaging of the brain and detailed neuropsychological evaluation. Results: Confabulation occurred together with disinhibited and stimulus bound behaviour. While the patient's physical and emotional state limited the range of psychometric tests administered, the results revealed an inability to maintain focused, regulated information processing. Although memory difficulties were present, they were not in the nature of a severe amnesic disorder. The patient appeared to have a broad fund of knowledge, but the associations binding the information together and putting it into context were loose. All three features of a triad of responses previously described in confabulating patients were present, namely an inability to withhold answers, to monitor one's own responses and provide verbal self corrections. MRI of the brain showed bilateral periventricular lesions and discrete frontal lesions with 53% of the total lesion volume distributed in frontal areas. Cortical atrophy, most marked in frontal regions also was conspicuous. Conclusions: Confabulation linked to frontal lobe involvement may occur as part of the changes in mentation found in MS. It is, however, rare and although associated with impaired memory, may be found in the absence of a severe amnesic disorder. This conclusion is discussed in the light of observations from the literature suggesting that frontal involvement is a prerequisite before fantastic confabulation occurs.


Author(s):  
Imen Ksiaa ◽  
Safa Ben Aoun ◽  
Sourour Zina ◽  
Dhouha Nefzi ◽  
Sana Khochtali ◽  
...  

Abstract Objective To describe a case of Behçet disease (BD) uveitis manifesting with sequential bilateral neuroretinitis associated with prepapillary inflammatory vitreous exudate (PIVE). Material and methods A single case report documented with multimodal imaging. Results A 37-year-old man developed neuroretinitis with associated PIVE in the left eye. He was diagnosed with ocular toxoplasmosis and treated accordingly based on positive serologic testing and negative work-up for other entities, including BD. The disease course was favorable, but 1 year later a similar neuroretinitis developed in the right eye. Extraocular features of BD became evident only at the time of the second eye involvement, and the patient received corticosteroid and immunosuppressive therapy. Swept source (SS) OCT showed at the acute phase in both eyes a typical “mushroom-shaped” prepapillary hyperreflectivity of the PIVE. SS OCT angiography (OCTA) demonstrated a corresponding prepapillary hypointense area due to shadowing effect, decreasing in size while scanning deeper layers. It also detected peripapillary retinal hypervascularity in both eyes and a sectoral area of flow signal loss in the first involved left eye. Visual acuity improved following the resolution of the PIVE and associated acute inflammatory changes in both eyes. The left eye showed residual optic disc pallor and retinal nerve fiber layer defects. Conclusion Sequential bilateral neuroretinitis associated with PIVE may occur before other clinical features of BD become evident. SS OCT and OCTA can provide useful information for the diagnosis and management of this rare, but typical, ocular manifestation of BD uveitis.


Cortex ◽  
1988 ◽  
Vol 24 (2) ◽  
pp. 347-355 ◽  
Author(s):  
A. Charnallet ◽  
S. Carbonnel ◽  
J. Pellat

2016 ◽  
Vol 33 (S1) ◽  
pp. S50-S50
Author(s):  
W. Cahn ◽  

ObjectiveGenetic risk and outcome of psychoses (GROUP) is a 6 year longitudinal cohort study that focus on gene–environment vulnerability and resilience in patients with psychotic disorders, their unaffected family members and non-related controls. Its main aim is to elucidate etiological and pathogenetic factors that influence the onset and course of psychotic disorders. In this substudy, we will examine medication use over time, its relation with (the change in) metabolic syndrome status and effects on the brain.MethodsA consortium of four university psychiatric centers and their affiliated mental health care institutions, conducted the GROUP study. At baseline, 1120 patients, 1057 siblings, 919 parents and 590 healthy controls were included. After inclusion, participants, except parents, were evaluated again after three and six years of follow-up. Extensive assessment of genetic factors, environmental factors, medication use, metabolic parameters and outcome were performed. Moreover, brain imaging was performed in a subset of participants, using a 1.5 Tesla MRI scanner.ResultsAt baseline 65% of patients used atypical antipsychotics, 16% used conventional antipsychotics and 19% used clozapine. Siblings and controls used no antipsychotics. Forty-three percent of patients, 21.3% of siblings and 9.1% of controls used antidepressants; 43.9% of patients, 2.1% of siblings and none of the controls used a mood stabilizer. We are currently analyzing the medication data over time in relation to (change in) metabolic syndrome status and the effects on the brain.ConclusionGROUP is a longitudinal cohort study in patients with psychotic disorders, their healthy siblings and controls without psychosis. This naturalistic substudy examines medication use, its association with (change of) metabolic status and effects on the brain in subjects with (high risk of) psychosis.Disclosure of interestThe authors have not supplied their declaration of competing interest.


1994 ◽  
Vol 10 (4-5) ◽  
pp. 573-577
Author(s):  
Theodore R. Simon ◽  
David C. Hickey ◽  
Cynthia E. Fincher ◽  
Alfred R. Johnson ◽  
Gerald H. Ross ◽  
...  

Chemical sensitivities display a recurrent pattern on scintigraphic examinations of the brain. The pattern can include mismatching between early and late imaging, multiple hot and cold foci distributed throughout the cortex without regard to lobar distribution (salt and pepper pattern), temporal asymmetries, and sometimes increased activity in the basal ganglia. This study used Desert Shield/Desert Storm veterans who present with abnormal neurological and psychological symptoms as a model to exhibit abnormalities by brain scintigraphy. These are typical of those seen in patients with documented exposure to neurotoxic compounds who develop a clinical syndrome that has been termed chemical sensitivity. Exposure to cocaine, alcohol, and other substances of abuse can result in abnormal scintigrams of the brain using tracers such as [technetium 99m]hexamethylpropyleneoxime. This study used techniques combining regional cerebral blood flow data with delayed distributional data after the intracellular conversion of the tracer into a hydrophilic molecule. In addition to delayed image abnormalities, a mismatch occurs in the regional activity between the two image sets of the veterans. This degree of mismatch was not seen in control subjects who were screened for avoidance of neurotoxic agents. Patterns identified from examinations performed on patients with known exposure to petroleum distillates, pesticides and other materials linked with neurotoxicity were identified in some veterans of the Desert Shield/Desert Storm operation. A single case of repeated examinations on a veteran showed a reversion of these patterns toward normal after therapy. This reversion followed independent assessments of clinical improvement.


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