Frontotemporal Dementia, Manifested as Schizophrenia, with Decreased Heterochromatin on Chromosome 1
Introduction. Frontotemporal dementia is a disorder of complex etiology, with genetic components contributing to the disease. The aim of this report is to describe a young patient suffering from frontotemporal dementia, misdiagnosed as schizophrenia, related to a genetic defect on chromosome 1. Case...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Psychiatry |
| Online Access: | http://dx.doi.org/10.1155/2012/937518 |
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| author | Philippos Gourzis Maria Skokou Panagiotis Polychronopoulos Evanthia Soubasi Irene-Eva Triantaphyllidou Christos Aravidis Antonia-Ioanna Sarela Zoe Kosmaidou |
| author_facet | Philippos Gourzis Maria Skokou Panagiotis Polychronopoulos Evanthia Soubasi Irene-Eva Triantaphyllidou Christos Aravidis Antonia-Ioanna Sarela Zoe Kosmaidou |
| author_sort | Philippos Gourzis |
| collection | DOAJ |
| description | Introduction. Frontotemporal dementia is a disorder of complex etiology, with genetic components contributing to the disease. The aim of this report is to describe a young patient suffering from frontotemporal dementia, misdiagnosed as schizophrenia, related to a genetic defect on chromosome 1. Case Presentation. A 29-year-old female patient, previously diagnosed as having schizophrenia, was hospitalized with severe behavioural disturbances. She demonstrated severe sexual disinhibition, hyperphagia, lack of motivation, apathy, psychotic symptoms, suicidal thoughts, and cognitive deterioration. Focal atrophy of frontal and anterior temporal structures bilaterally was found on brain MRI, as well as bifrontal hypo perfusion of the brain on SPECT scan. The diagnosis of frontotemporal dementia was made clinically, according to Lund and Manchester groups and Neary diagnostic criteria. Chromosomal analysis was conducted and revealed decrease in length of heterochromatin on the long arm of chromosome 1 (46, XX, 1qh-). Parental karyotypes were normal. Discussion. Frontotemporal dementia, and particularly early-onset cases, can be often misdiagnosed as schizophrenia, with negative impact on case management. Genetic testing could be an aid to the correct diagnosis, which is crucial for optimal patient care. |
| format | Article |
| id | doaj-art-e3c28b59cea04ca5b7d0262364f9ed27 |
| institution | Kabale University |
| issn | 2090-682X 2090-6838 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Psychiatry |
| spelling | doaj-art-e3c28b59cea04ca5b7d0262364f9ed272025-02-03T05:57:12ZengWileyCase Reports in Psychiatry2090-682X2090-68382012-01-01201210.1155/2012/937518937518Frontotemporal Dementia, Manifested as Schizophrenia, with Decreased Heterochromatin on Chromosome 1Philippos Gourzis0Maria Skokou1Panagiotis Polychronopoulos2Evanthia Soubasi3Irene-Eva Triantaphyllidou4Christos Aravidis5Antonia-Ioanna Sarela6Zoe Kosmaidou7Department of Psychiatry, School of Medicine and University Hospital of Patras, University of Patras, 26504 Rio, Patras, GreeceDepartment of Psychiatry, School of Medicine and University Hospital of Patras, University of Patras, 26504 Rio, Patras, GreeceDepartment of Neurology, School of Medicine and University Hospital of Patras, University of Patras, 26504 Rio, Patras, GreeceDepartment of Psychiatry, School of Medicine and University Hospital of Patras, University of Patras, 26504 Rio, Patras, GreeceDepartment of Chemistry, Laboratory of Biochemistry, University of Patras, 26504 Rio, Patras, GreeceDepartment of Genetics, “Alexandra” Hospital, 10671 Athens, GreeceDepartment of Psychiatry, School of Medicine and University Hospital of Patras, University of Patras, 26504 Rio, Patras, GreeceDepartment of Genetics, “Alexandra” Hospital, 10671 Athens, GreeceIntroduction. Frontotemporal dementia is a disorder of complex etiology, with genetic components contributing to the disease. The aim of this report is to describe a young patient suffering from frontotemporal dementia, misdiagnosed as schizophrenia, related to a genetic defect on chromosome 1. Case Presentation. A 29-year-old female patient, previously diagnosed as having schizophrenia, was hospitalized with severe behavioural disturbances. She demonstrated severe sexual disinhibition, hyperphagia, lack of motivation, apathy, psychotic symptoms, suicidal thoughts, and cognitive deterioration. Focal atrophy of frontal and anterior temporal structures bilaterally was found on brain MRI, as well as bifrontal hypo perfusion of the brain on SPECT scan. The diagnosis of frontotemporal dementia was made clinically, according to Lund and Manchester groups and Neary diagnostic criteria. Chromosomal analysis was conducted and revealed decrease in length of heterochromatin on the long arm of chromosome 1 (46, XX, 1qh-). Parental karyotypes were normal. Discussion. Frontotemporal dementia, and particularly early-onset cases, can be often misdiagnosed as schizophrenia, with negative impact on case management. Genetic testing could be an aid to the correct diagnosis, which is crucial for optimal patient care.http://dx.doi.org/10.1155/2012/937518 |
| spellingShingle | Philippos Gourzis Maria Skokou Panagiotis Polychronopoulos Evanthia Soubasi Irene-Eva Triantaphyllidou Christos Aravidis Antonia-Ioanna Sarela Zoe Kosmaidou Frontotemporal Dementia, Manifested as Schizophrenia, with Decreased Heterochromatin on Chromosome 1 Case Reports in Psychiatry |
| title | Frontotemporal Dementia, Manifested as Schizophrenia, with Decreased Heterochromatin on Chromosome 1 |
| title_full | Frontotemporal Dementia, Manifested as Schizophrenia, with Decreased Heterochromatin on Chromosome 1 |
| title_fullStr | Frontotemporal Dementia, Manifested as Schizophrenia, with Decreased Heterochromatin on Chromosome 1 |
| title_full_unstemmed | Frontotemporal Dementia, Manifested as Schizophrenia, with Decreased Heterochromatin on Chromosome 1 |
| title_short | Frontotemporal Dementia, Manifested as Schizophrenia, with Decreased Heterochromatin on Chromosome 1 |
| title_sort | frontotemporal dementia manifested as schizophrenia with decreased heterochromatin on chromosome 1 |
| url | http://dx.doi.org/10.1155/2012/937518 |
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