Alkaptonuric Arthropathy with Periprosthetic Fracture: A Case Report

Abstract

Alkaptonuria or Ochronosis is an autosomal recessive congenital metabolic error due to absence of enzyme homogentisic acid oxidase. Recently, we had an opportunity to diagnose this condition in one of our patients. An old aged man developed a pathological fracture of femur after a trivial fall at home. He was diagnosed to have intracapsular fracture neck of femur. Intraoperatively we noticed blackish discoloration of femoral head which lead us to investigate the case for alkaptonuria. Hemiarthroplasty was done with Austin moore prosthesis. Patient had cutaneous pigmentation and gross arthritic changes at multiple joints including spine. After one and half year patient developed a periprosthetic fracture of the femur for which open reduction and internal fixation was done. A periprosthetic fracture in ochronotic patient has never been reported till date which makes it a rarer entity. This article presents the clinico-radiologic manifestations of the case with surgical management and a follow up of two years.

Orthopedic Manifestations of Ochronosis: Pathophysiology, Presentation, Diagnosis, and Management

“…1,4,7 Hardening of the pinnae of the ears may result from pigment deposition. 3 A suggested reason for the delayed onset of symptoms until middle age is…”

“…10,18,20 Antiresorptive therapy has been proposed as an early prophylactic intervention in patients identified to have ochronotic arthropathy to prevent bone fractures. 3…”

“…1,2 Alkaptonuria has an estimated prevalence ranging from 1:200,000 to 1:1,000,000 live births worldwide, although an increased prevalence of disease of approximately 1 in 19,000 has been found in the Dominican Republic and within the Piestany region in Slovakia. 1,3 Founder effects resulting from migration and genetic isolation in these regions have been implicated in the explanation for these findings.…”

The Representation of Coordinate Relations in Lexical Semantic Memory

“…The second purpose of Experiment 2 was to determine if the overall increase in reaction times in the Coordinate condition was due to specific semantic processing or simply reflected more general, non-specific and non-semantic processing (Kiger and Glass, 1981). Earlier work in choice reaction time (Rabbitt, 1966;Rabbitt and Rodgers, 1977;Lamming, 1979) suggests that adding more difficult items to a stimulus set can increase latencies even to easy items. Perhaps response times in the Coordinate condition are longer than in the Anomalous condition due to such overall slowing and not to any specific semantic processing.…”

Misdiagnosis of alkaptonuria in an elderly patient

“…Alkaptonuria (AKU) is a very rare inherited recessive autosomal metabolic disorder with an estimated prevalence ranging from 1:200.000 to 1:1000000 live births worldwide 1,2 ; it is caused by homogentisate 1,2-dioxygenase (HGD) deficiency, an enzyme responsible for converting homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway 1,2 . The gene encoding HGD has been maped to human chromosome 3q 21-q23 [3][4][5] .…”