Neglected Alkaptonuric Patients Presented with Symptomatic Degenerative Disc Disorders: Report of Two Cases and Review of Literature
Seyed Reza Etemadoleslami Bakhtiari1, Mavlonov Jaloliddin Begijonovich2, Bahodurov Subhonidin Sharafiddinovich2, Davlatov Manuchekhr Valievich3, Daniel Kheradmand1, Saba Delasaeimarvi4, Seyed Ali Shariat Razavi1, Masoumeh Taghdisi4 and Navid Faraji1*
1 Department of Neurosurgery, Mashhad University of Medical Science, Mashhad, Iran.
2 Department of Neurosurgery, National Medical Center Republic of Tajikistan “Shifobakhsh”, Dushanbe, Republic of Tajikistan.
3 Department of Neurosurgery and Polytrauma, Avicenna Tajik State Medical University, Dushanbe, Republic of Tajikistan.
4 Student Research Committee, Islamic Azad University, Mashhad Branch, Mashhad, Iran.
*Corresponding Author: Navid Faraji, Department of Neurosurgery, Mashhad University of Medical Science, Mashhad, Iran.
DOI: https://doi.org/10.58624/SVOANE.2023.04.0110
Received: October 28, 2023 Published: November 17, 2023
Abstract
Alkaptonuria (AKU) is a rare autosomal disorder characterized by the accumulation of excess homogentisic acid (HGA) in connective tissues. Herein, we report the uncommon presentation of degenerative lumbar disc disease occurring in two patients with AKU warranting spinal surgery. We report two cases of symptomatic disc herniation and vertebral canal stenosis, presented with radiculopathy and progressive neurogenic claudication, respectively. During spinal surgery, blackened ligamentum flavum and intervertebral disc raised the suspicion of a metabolic disorder. Re-examination of patients revealed nose and ear cartilage discoloration in only one of them, however, histopathological findings and urinalysis were confirmatory for AKU in both. Notwithstanding the rarity of AKU, spine surgeons must be vigilant in their examination and diagnosis, and should not exclude any possible diagnosis without thorough consideration.
Keywords: Alkaptonuria, intervertebral disc, claudication, radiculopathy, vertebral canal stenosis
Citation: Bakhtiari SRE, Begijonovich MJ, Sharafiddinovich BS, Valievich DM, Kheradmand D, Delasaeimarvi S, Razavi SAS, Taghdisi M, Faraji N. Neglected Alkaptonuric Patients Presented with Symptomatic Degenerative Disc Disorders: Report of Two Cases and Review of Literature. SVOA Neurology 2023, 4:6, 184-188.
