COCKAYNE SYNDROME TYPE II

Abstract

Cockayne syndrome (CS) is a rare autosomal recessive neurodegenerative disorder associated with impaired DNA repair, developmental delay, and multisystem involvement. This article presents a rare clinical case of type II CS in a child with a confirmed ERCC6 gene mutation and a severe disease course. Symptoms manifested in the neonatal period and progressed with profound neurological deficits, sensorineural hearing loss, ophthalmologic disorders, epileptic syndrome, and persistent malnutrition. A distinctive feature of this case is the unusually long survival (up to 17 years), which is exceptional for CS type II, typically associated with a poor prognosis. The diagnosis was confirmed by molecular genetic testing, and neuroimaging revealed characteristic brain abnormalities. The patient received supportive care based on a multidisciplinary approach, including nutritional, symptomatic, antiepileptic, and palliative treatment. The condition remained stably severe and required continuous medical supervision. This case emphasizes the importance of early diagnosis, ongoing multidisciplinary management, and clinical vigilance in children with rare neurodegenerative disorders.