A Rare Case of Cockayne Syndrome

Background: Cockayne syndrome is a rare autosomal recessive congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.

Case: In this report we present a 24 year old male with decreased height, weight & reduced head circumference measuring 124 cm, 20 kg and 20 cm respectively. Cachectic dwarfism, ataxic gait, mental retardation, sunken eyes, hypoplastic maxilla, and parrot beak shaped nose giving “bird like facies” were other key features observed in our patient. Oral examination revealed congenital missing teeth and multiple dental caries teeth are also seen. Magnetic resonance imaging and computed tomography findings were also contributory to our diagnosis.

Conclusion: This case report aims to rekindle and emphasis the diagnostic features of Cockayne syndrome & highlights the role of various investigations done by both medical & dental professionals to diagnose and manage the patient.