A Case of Alkaptonuria Diagnosed in Late Adulthood
Journal Title: International Journal of Medical and Pharmaceutical Case Reports - Year 2016, Vol 6, Issue 4
Abstract
Background: Alkaptonuria (AKU), also known as black urine disease, ochronosis as well, is a rare Mendelian autosomal recessive disorder, located on chromosome 3q21-q23, caused by deficiency of the homogentisate 1,2 dioxygenase (HGO), an enzyme which normally catalyses the conversion of homogentisic acid (HGA) into maleylacetoacetic acid, in the tyrosine degradation pathway. It results in accumulation and deposition of homogentisic acid in cartilage, eyelids, forehead, hand, axillae, genital regions, nail beds, buccal mucosa, larynx, tympanic eardrum, and the tendons. This condition leads to a severe and crippling arthropathy. We present a case of AKU in a 53 year old woman in Mashhad, Iran. Case Presentation: In this paper, we report a case of 53-year-old woman who presented with AKU and ochronotic pigment deposited in articular cartilage, sclera, cartilage of the ear, hands and degenerative arthropathy in Ghaem Hospital, in Mashhad, Iran. The features include arthritis of the spine and in larger peripheral joints. The problem began about 9 years ago with a history of darkening of urine and discoloration of sclera, ears and hands. In imaging studies, there were degenerative changes in spine. She also underwent hand biopsy which showed Ochronotic pigmentation. Conclusion: This case report that shows AKU must be considered in the evaluation of low back pain of patients’ bluish discoloration, ochronotic pigment deposited in cartilage tissues, sclera and hands. Therapeutic options include protein restriction, administration of high dose vitamin C.
Authors and Affiliations
Nayyereh Saadati, Mandana Khodashahi, Bahram Naghibzadeh
Keywords
Related Articles
- EP ID EP328322
- DOI 10.9734/IJMPCR/2016/22710
- Views 101
- Downloads 0
Facial Itching with Missed Doses of Vilazodone
Aims: Our aim is to describe a case of moderate to severe facial itching associated with missed doses of vilazodone. Presentation of Case: This report concerns a 53-year old woman with systemic lupus erythematosus and m...
The Diagnostic Challenges in ACTH Dependent Cushing’s Disease
Objective: To discuss the difficulties in the diagnostic workup and management of ACTH dependent Cushing’s syndrome. Methods: We report the case of a patient with ACTH dependent Cushing’s syndrome, in whom the identific...
Bilateral Fibrous Dysplasia of the Upper and Lower Jaws: Case Report
Aim: To present a case with bilateral fibrous dysplasia of the upper and lower jaws. Presentation of Case: A patient had mild pain in the lower jaw without any specific localization. From the patient’s diagnosis, it was...
An Uncommon Oro-cutaneous Complication of Systemic 5-fluorouracil- A Case Report
5-fluorouracil is an antineoplastic drug mainly acts by pyrimidine antagonist and classified as an antimetabolite. There are few complications which is very rare following administration of 5FU including hyper pigmentati...
Hemoptysis in a Young Adult with Congenital Cystic Adenomatoid Malformation of the Lung: Case Report
Congenital cystic adenomatoid malformations (CCAM), also named congenital pulmonary airway malformation s (CPAM) are multicystic masses of segmental lung tissue with abnormal bronchial proliferation. There is failure of...