Cockayne syndrome type: a very rare association with hemorrhagic stroke

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. In our case, a 16-year...

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Bibliographic Details
Published inTurkish journal of pediatrics Vol. 63; no. 5; pp. 922 - 926
Main Authors Atalay, Başak, Sorkun, Mine, Karatoprak, Elif Yüksel
Format Journal Article
LanguageEnglish
Published Turkey Hacettepe University Faculty of Medicine 01.09.2021
Subjects
Adolescent
Cockayne Syndrome - complications
Cockayne Syndrome - diagnosis
Cockayne Syndrome - genetics
Female
Hemorrhagic Stroke
Humans
Magnetic Resonance Imaging
Medical imaging
Mutation
Pathology
Stroke - diagnostic imaging
Stroke - etiology
Tomography, X-Ray Computed
computed tomography
Cockayne syndrome
magnetic resonance imaging
hemorrhagic stroke
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Summary: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. 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. Cockayne syndrome is rarely associated with stroke; we report the clinical and neuroradiologic findings of CS presenting with a hemorrhagic stroke.
ISSN:0041-4301
2791-6421
DOI:10.24953/turkjped.2021.05.022