ObjectiveTo recognize and carry out early diagnosis for Cockayne syndrome (CS) as it is an extremely rare auto-recessive genetic syndrome characterized by multiple symptoms including growth failure and impaired development of the nervous system. MethodsHere we reported a case of typical CS with an unusual appearance. The 19-year-old young male patient was referred to West China Hospital on December 24th 2012. We analyzed the clinical characteristics of the patient and followed the literature review to help improve the knowledge on CS for clinicians. ResultsThe patient's parents were cousins. Laboratory data showed that lipoprotein profile, blood glucose and electrolytes, liver and renal function, as well as hormones (thyroxin, para-thyroxin, growth hormones, adrenocorticotropic hormone, corticosteroid) were all within normal limit. Electronic hearing examination showed moderate neural hearing loss. CT scan indicated multiple intracranial calcifications. The patient was definitely diagnosed with CS. He received nutritional support and symptomatic treatment but discharged due to lack of effective treatment. ConclusionCS is a progressive multisystem disorder characterized by a specific cellular defect in transcription-coupled repair. Typical features include developmental delay and impaired development of the nervous system. Typical clinical manifestations and imaging changes are helpful for clinical diagnosis of CS. Genotyping is necessary for patients with CS. Unfortunately, there is no ideal treatment for CS. Most of the patients with CS have poor prognosis.
To improve nursing interventions for patients with epilepsy and intellectual impairment. Epilepsy, as one of the common chronic neurological diseases, often coexists with intellectual impairment. This article reviews the treatment methods and related nursing measures for epilepsy patients with intellectual impairment, and proposes the application of comprehensive nursing concepts in clinical practice. The nursing of patients with epilepsy and intellectual impairment faces multiple challenges. Nursing activities provide personalized care needs, emphasize patient education, simplify medication treatment plans, and promote collaborative relationships between patients, nursing staff, and healthcare providers. Through evidence-based intervention, interdisciplinary collaboration, and innovative nursing models, nursing plays a crucial role in improving patient treatment outcomes and enhancing their quality of life.