Alkaptonuria diagnosed in a geriatric patient; a case report

Abstract

Alkaptonuria is a hereditary and metabolic disease which is characterised by ocranosis, arthritis and aciduria. It is a rare clinical condition which has an estimated incidence varies from 1/ 250,000 to 1/1000000 live births. This autosomal recessive disorder occurs as a result of homogentisic acid dioxygenase enzyme deficiency which takes part in tyrosine metabolism. This case report aimed to present a geriatric patient who had diagnosed alkaptonuria. A 69 years old male was admitted to our department with knee-shoulder pain and range of motion (ROM) limitation. His medical history revealed that he had both mechanical and inflammatory joint pain for 22 years. The examination of his eyes were compatible with blue sclera and there was also bluish black discoloration on the ears. He had also hearing loss. Qualitative 24 hours collected urine examination showed dark black discoloration. The patient was diagnosed as alkaptonuria. A physical therapy programme were planned to the patient by our department. Clinicians should be aware of this pathology and the diagnosis should be confirmed by clinical, laboratory and radiological examinations.