Cockayne syndrome type: a very rare association with hemorrhagic stroke
Background. Cockayne Syndrome (CS) is a rare autosomal recessive disorder that is mainly characterized by neurodevelopmental delay, cutaneous photosensitivity, and cachectic dwarfism. Genetic diagnosis is supported by the typical physical appearance and imaging findings of these patients....
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| Language: | English |
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Hacettepe University Institute of Child Health
2021-10-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/377 |
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| author | Başak Atalay Mine Sorkun Elif Yüksel Karatoprak |
| author_facet | Başak Atalay Mine Sorkun Elif Yüksel Karatoprak |
| author_sort | Başak Atalay |
| collection | DOAJ |
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Background. Cockayne Syndrome (CS) is a rare autosomal recessive disorder that is mainly characterized by neurodevelopmental delay, cutaneous photosensitivity, and cachectic dwarfism. Genetic diagnosis is supported by the typical physical appearance and imaging findings of these patients.
Case. In our case, a 16-year-old female previously diagnosed as CS presented with right-sided hemiparesis. Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) images showed diffuse cerebral and cerebellar atrophies, volume loss of brain stem, calcification of the bilateral basal ganglia, hemorrhage on the posterior limb of the left internal capsule, thalamus, and posterior periventricular area.
Conclusions. Cockayne syndrome is rarely associated with stroke; we report the clinical and neuroradiologic findings of CS presenting with a hemorrhagic stroke.
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| format | Article |
| id | doaj-art-143f9a8ae95a47018e4b3b94c67ea7ec |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2021-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-143f9a8ae95a47018e4b3b94c67ea7ec2025-08-20T02:01:46ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212021-10-0163510.24953/turkjped.2021.05.022Cockayne syndrome type: a very rare association with hemorrhagic strokeBaşak Atalay0Mine Sorkun1Elif Yüksel Karatoprak2Departments of Radiology, İstanbul Medeniyet University Faculty of Medicine, Göztepe Training and Research Hospital, İstanbul, Turkey.Departments of Radiology, İstanbul Medeniyet University Faculty of Medicine, Göztepe Training and Research Hospital, İstanbul, Turkey.Departments of Pediatric Neurology, İstanbul Medeniyet University Faculty of Medicine, Göztepe Training and Research Hospital, İstanbul, Turkey. Background. Cockayne Syndrome (CS) is a rare autosomal recessive disorder that is mainly characterized by neurodevelopmental delay, cutaneous photosensitivity, and cachectic dwarfism. Genetic diagnosis is supported by the typical physical appearance and imaging findings of these patients. Case. In our case, a 16-year-old female previously diagnosed as CS presented with right-sided hemiparesis. Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) images showed diffuse cerebral and cerebellar atrophies, volume loss of brain stem, calcification of the bilateral basal ganglia, hemorrhage on the posterior limb of the left internal capsule, thalamus, and posterior periventricular area. Conclusions. Cockayne syndrome is rarely associated with stroke; we report the clinical and neuroradiologic findings of CS presenting with a hemorrhagic stroke. https://turkjpediatr.org/article/view/377Cockayne syndromecomputed tomographyhemorrhagic strokemagnetic resonance imaging |
| spellingShingle | Başak Atalay Mine Sorkun Elif Yüksel Karatoprak Cockayne syndrome type: a very rare association with hemorrhagic stroke The Turkish Journal of Pediatrics Cockayne syndrome computed tomography hemorrhagic stroke magnetic resonance imaging |
| title | Cockayne syndrome type: a very rare association with hemorrhagic stroke |
| title_full | Cockayne syndrome type: a very rare association with hemorrhagic stroke |
| title_fullStr | Cockayne syndrome type: a very rare association with hemorrhagic stroke |
| title_full_unstemmed | Cockayne syndrome type: a very rare association with hemorrhagic stroke |
| title_short | Cockayne syndrome type: a very rare association with hemorrhagic stroke |
| title_sort | cockayne syndrome type a very rare association with hemorrhagic stroke |
| topic | Cockayne syndrome computed tomography hemorrhagic stroke magnetic resonance imaging |
| url | https://turkjpediatr.org/article/view/377 |
| work_keys_str_mv | AT basakatalay cockaynesyndrometypeaveryrareassociationwithhemorrhagicstroke AT minesorkun cockaynesyndrometypeaveryrareassociationwithhemorrhagicstroke AT elifyukselkaratoprak cockaynesyndrometypeaveryrareassociationwithhemorrhagicstroke |