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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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2021-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/377 |
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| Summary: | 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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| ISSN: | 0041-4301 2791-6421 |