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.
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