Case report: Thoracolumbar spinal stenosis associated with alkaptonuria
Hong Ding1, Liang Wang1, Gan-Jun Feng1
1Department of Orthopedics, Orthopedic Research Institute, West China Hospital, Sichuan University, Chengdu, China.
Frontiers in Surgery
|January 23, 2023
Summary
Alkaptonuria, a rare genetic disorder, can cause thoracolumbar spinal stenosis. This case highlights the importance of recognizing this rare presentation for timely diagnosis and treatment.
Area of Science:
- Medical Genetics
- Neurosurgery
- Radiology
Background:
- Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder.
- Spinal involvement in AKU typically occurs late in the disease progression.
- Thoracolumbar spinal stenosis is an uncommon manifestation of AKU.
Observation:
- A 61-year-old female presented with severe thoracolumbar stenosis and kyphosis.
- Initial symptoms mimicked ankylosing spondylitis, but melanin deposits and darkened urine were noted.
- Imaging revealed no bone bridges, differentiating it from ankylosing spondylitis.
Findings:
- Urine testing and intraoperative pathology confirmed alkaptonuria.
- The patient had motor incomplete spinal cord injury (ASIA C).
- This is the first reported case of thoracolumbar spinal stenosis in a patient with alkaptonuria.
Implications:
- This case underscores the need for considering AKU in patients with spinal stenosis and characteristic signs.
- Early diagnosis and surgical intervention (decompression and fixation) led to good recovery.
- Highlights the diagnostic challenges and importance of multidisciplinary evaluation in rare diseases.
Related Concept Videos
01:19Allosteric Proteins-ATCase
5.8K
Binding sites linkages can regulate a protein's function. For example, enzyme activity is often regulated through a feedback mechanism where the end product of the biochemical process serves as an inhibitor.
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis...
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis...
5.8K
01:20Inborn Errors of Metabolism
221
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
221
01:21Overview of Protein Metabolism
1.5K
Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
1.5K
01:30Urinary Tract Calculi III: Medical Management
13
The diagnosis of renal calculi involves several imaging techniques, including non-contrast CT scans and ultrasound. These methods help visualize kidney stones, assess their size and location, and detect possible obstructions. Additionally, Measuring urine pH is useful for diagnosing specific stone types, such as struvite (alkaline pH) and uric acid stones (acidic pH). Cystine stones are primarily linked to cystinuria, a genetic condition. A urinalysis helps detect blood in the urine (hematuria)...
13
01:27Urinary Tract Calculi IV: Nutrition Therapy and Prevention
20
Management of renal calculi focuses on effective strategies like tailored nutrition and hydration therapy. Adjusting diet and fluid intake reduces stone formation and recurrence, making these interventions simple yet powerful in kidney stone prevention and management.Understanding Kidney StonesKidney stones form when calcium, oxalate, uric acid, and cystine concentrate and crystallize in urine. Factors contributing to their formation include genetic predisposition, certain medical conditions,...
20
01:26Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations
26
Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
26