Case report: Thoracolumbar spinal stenosis associated with alkaptonuria

BackgroundAlkaptonuria is a rare autosomal genetic disorder with an incidence of about 1 in 1 million per year. Spinal involvement often manifests in the later stages of the disease. However, this is the first report of the presentation of thoracolumbar spinal stenosis.Case presentationWe report the...

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Main Authors: Hong Ding, Liang Wang, Gan-Jun Feng, Yue-Ming Song, Li-Min Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Surgery
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fsurg.2022.1040715/full
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author Hong Ding
Liang Wang
Gan-Jun Feng
Yue-Ming Song
Li-Min Liu
author_facet Hong Ding
Liang Wang
Gan-Jun Feng
Yue-Ming Song
Li-Min Liu
author_sort Hong Ding
collection DOAJ
description BackgroundAlkaptonuria is a rare autosomal genetic disorder with an incidence of about 1 in 1 million per year. Spinal involvement often manifests in the later stages of the disease. However, this is the first report of the presentation of thoracolumbar spinal stenosis.Case presentationWe report the case of a 61-year-old female patient with significant thoracolumbar stenosis symptoms. The patient had obvious kyphosis with preoperative lower extremity muscle strength grade 2/5. Symptoms and imaging signs initially suggested ankylosing spondylitis. This patient was classified into motor incomplete injury (ASIA C). However, the patient was found to have melanin deposits on the sclera and skin, and the urine was darkened at rest. CT and MRI both suggested no bone bridge connection between vertebrae, which was the key difference between ankylosing spondylitis and alkaptonuria in imaging. Most importantly, urine specimen testing and intraoperative pathology demonstrated alkaptonuria. The patient underwent spinal decompression and vertebral body fixation. Postoperative recovery was good: the patient had significantly relieved pain and could stand and walk.ConclusionThis case is the first report of thoracolumbar spinal stenosis associated with alkaptonuria involving the spine.
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spelling doaj.art-cbc60ba08a42495f82d916700b34607e2023-01-06T05:43:42ZengFrontiers Media S.A.Frontiers in Surgery2296-875X2023-01-01910.3389/fsurg.2022.10407151040715Case report: Thoracolumbar spinal stenosis associated with alkaptonuriaHong DingLiang WangGan-Jun FengYue-Ming SongLi-Min LiuBackgroundAlkaptonuria is a rare autosomal genetic disorder with an incidence of about 1 in 1 million per year. Spinal involvement often manifests in the later stages of the disease. However, this is the first report of the presentation of thoracolumbar spinal stenosis.Case presentationWe report the case of a 61-year-old female patient with significant thoracolumbar stenosis symptoms. The patient had obvious kyphosis with preoperative lower extremity muscle strength grade 2/5. Symptoms and imaging signs initially suggested ankylosing spondylitis. This patient was classified into motor incomplete injury (ASIA C). However, the patient was found to have melanin deposits on the sclera and skin, and the urine was darkened at rest. CT and MRI both suggested no bone bridge connection between vertebrae, which was the key difference between ankylosing spondylitis and alkaptonuria in imaging. Most importantly, urine specimen testing and intraoperative pathology demonstrated alkaptonuria. The patient underwent spinal decompression and vertebral body fixation. Postoperative recovery was good: the patient had significantly relieved pain and could stand and walk.ConclusionThis case is the first report of thoracolumbar spinal stenosis associated with alkaptonuria involving the spine.https://www.frontiersin.org/articles/10.3389/fsurg.2022.1040715/fullalkaptonuriathoracolumbar spinal stenosiscase reportsurgerykyphosis
spellingShingle Hong Ding
Liang Wang
Gan-Jun Feng
Yue-Ming Song
Li-Min Liu
Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
Frontiers in Surgery
alkaptonuria
thoracolumbar spinal stenosis
case report
surgery
kyphosis
title Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
title_full Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
title_fullStr Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
title_full_unstemmed Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
title_short Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
title_sort case report thoracolumbar spinal stenosis associated with alkaptonuria
topic alkaptonuria
thoracolumbar spinal stenosis
case report
surgery
kyphosis
url https://www.frontiersin.org/articles/10.3389/fsurg.2022.1040715/full
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AT ganjunfeng casereportthoracolumbarspinalstenosisassociatedwithalkaptonuria
AT yuemingsong casereportthoracolumbarspinalstenosisassociatedwithalkaptonuria
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