Evaluation of Patients with Cockayne Syndrome: Cockayne Syndrome

Hamit Acer; Gül Demet  Özçora; Mehmet Canpolat; Muhammet Ensar Doğan; Zehra Filiz Kahraman; Sefer Kumandaş

doi:10.4274/jpea.2024.314

Authors

Hamit Acer Denizli State Hospital, Clinic of Pediatrics, Division of Pediatric Neurology, Denizli, Türkiye https://orcid.org/0000-0002-4743-0847
Gül Demet Özçora Memorial Ataşehir Hospital, Clinic of Pediatrics, Division of Pediatric Neurology, İstanbul, Türkiye https://orcid.org/0000-0003-3316-8654
Mehmet Canpolat Erciyes University Faculty of Medicine, Department of Pediatric Neurology, Kayseri, Türkiye https://orcid.org/0000-0002-2197-8433
Muhammet Ensar Doğan Kayseri City Training and Research Hospital, Clinic of Medical Genetics, Kayseri, Türkiye https://orcid.org/0000-0002-5034-7083
Zehra Filiz Kahraman Erciyes University Faculty of Medicine, Department of Radiology, Kayseri, Türkiye https://orcid.org/0000-0003-4552-8098
Sefer Kumandaş Erciyes University Faculty of Medicine, Department of Pediatric Neurology, Kayseri, Türkiye https://orcid.org/0000-0003-0117-1218

DOI:

https://doi.org/10.4274/jpea.2024.314

Keywords:

Cockayne syndrome, microcephaly, premature aging

Abstract

Cockayne syndrome (CS) is a rare, severe, genetic neurodegenerative disorder. To better understand the condition, this article aimed to discuss the clinical manifestations and prognosis of CS. This clinical study was a retrospective review of the medical records of patients diagnosed with CS between January 2010 and January 2020. A total of 9 patients (6 males, 66.7%; 3 females, 33.3%) from 7 families were enrolled in the study. The median age of the patients was 94 (4-186) months. Genetic confirmation of CS was obtained in 5 of the patients and ERCC8 mutations were identified in all patients who underwent genetic confirmation of the disease. On admission, 8 patients were found to have microcephaly 4 patients were admitted for psychomotor retardation, 3 for seizures, and two for walking disabilities. The diagnosis of patients with CS can be challenging due to the wide range of symptoms. In patients who are normal at birth but develop microcephaly during follow-up, physicians should consider CS in addition to metabolic diseases in the differential diagnosis.