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Journals / Turkish Journal of Pediatrics / 2021 / Cilt: 63 - Sayı: 5

Cockayne syndrome type: a very rare association with hemorrhagic stroke

Başak ATALAY
Mine SORKUN
Elif Yüksel KARATOPRAK
Pages
922–926
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Cockayne syndrome is rarely associated with stroke; we report the clinical and neuroradiologic findings of CS presenting with a hemorrhagic stroke.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Cockayne Syndrome (CS) is a rare autosomal recessive disorder that is mainly characterized by neurodevelopmental delay, cutaneous photosensitivity, and cachectic dwarfism.
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Key Findings & Data:In our case, a 16-year-old female previously diagnosed as CS presented with right-sided hemiparesis.
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Conclusion & Impact:Cockayne syndrome is rarely associated with stroke; we report the clinical and neuroradiologic findings of CS presenting with a hemorrhagic stroke.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

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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Cite This Article

ATALAY, B., SORKUN, M., KARATOPRAK, E. Y. (2021). Cockayne syndrome type: a very rare association with hemorrhagic stroke. Turkish Journal of Pediatrics, Cilt: 63 - Sayı: 5, 922–926. https://ajindex.com/articles/411949

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