Cockayne syndrome type: a very rare association with hemorrhagic stroke.
Turk J Pediatr
; 63(5): 922-926, 2021.
Article
em En
| MEDLINE
| ID: mdl-34738376
ABSTRACT
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Cockayne
/
Acidente Vascular Cerebral
/
Acidente Vascular Cerebral Hemorrágico
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Female
/
Humans
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Turquia