Black-Colored Ligamentum Flavum Due to Alkaptonuria

2018 ◽  
Vol 80 (02) ◽  
pp. 131-133 ◽  
Author(s):  
Seyho Yucetas ◽  
Necati Ucler
Keyword(s):  
Metabolic Disease ◽  
Heart Valves ◽  
Ligamentum Flavum ◽  
Homogentisic Acid ◽  
Neurogenic Claudication ◽  
Acid Oxidase ◽  
Auricular Cartilage ◽  
Connective Tissues ◽  
Decompressive Laminectomy ◽  
Black Discoloration

AbstractAlkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). Defective production of this enzyme results in the accumulation of homogentisic acid (HGA), a tyrosine degradation product, in the bloodstream. Accumulation of HGA and its metabolites in tissues causes ochronosis. The word ochronosis refers to the dark bluish-black discoloration of connective tissues including the sclera, cornea, auricular cartilage, heart valves, articular cartilage, tendons, and ligaments. Neurogenic claudication resulting from focal hypertrophy of the ligamentum flavum in the lumbar spine due to ochronotic deposits has only been previously reported once in the literature. In this article, we present a 71-year-old male patient with alkaptonuria-associated degenerative L3–L4–L5 stenosis, diagnosed after lumbar decompressive laminectomy.

Alkaptonuria (Ochronosis)

2019 ◽  
pp. 178-180
Author(s):  
Josephina A. Vossen
Keyword(s):  
Metabolic Disease ◽  
Intervertebral Disc ◽  
Standard Method ◽  
Homogentisic Acid ◽  
Connective Tissues ◽  
Ochronotic Arthropathy ◽  
Intervertebral Disc Calcification ◽  
Cardiovascular Abnormalities ◽  
Acid Accumulation

Chapter 39 discusses alkaptonuria (ochronosis), a rare hereditary metabolic disease that leads to the deposition of homogentisic acid. Homogentisic acid accumulation causes damage to connective tissues; leads to formation of renal, urethral, and prostatic calculi; causes cardiovascular abnormalities; and causes arthropathy. Ochronotic arthropathy is the articular manifestation of alkaptonuria with the most common clinical sites of involvement being the spine, knees, and hips. Diagnosis of the disease is made by demonstration of homogentisic acid in the urine. Radiography is the standard method for detecting changes associated with alkaptonuria. CT can aid in the detection of intervertebral disc calcification.

scholarly journals Sequential tendon ruptures in ochronosis: case report

2017 ◽  
Vol 3 (6) ◽  
pp. 1235
Author(s):  
E. G. Mohan Kumar ◽  
G. M. Yathisha Kumar
Keyword(s):  
Connective Tissue ◽  
Case Reports ◽  
Autosomal Recessive Disorder ◽  
Degradation Pathway ◽  
Homogentisic Acid ◽  
The Body ◽  
Acid Oxidase ◽  
Connective Tissues ◽  
Dark Pigmentation ◽  
Tendon Ruptures

<p>Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase, due to deficiency of an enzyme that degrades HGA in the tyrosine degradation pathway. Homogentisic acid (HGA) and its metabolites accumulate in the connective tissues leading to dark pigmentation of connective tissue in patients with alkaptonuria. HGA deposits in connective tissue causes weakness of the tendon and subsequent rupture, especially the large tendons in the body. Only few cases are reported in the literature with multiple tendon rupture but many case reports are available with isolated rupture of tendons. We report on a patient with sequential tendon ruptures in a patient. The case is reported for its rarity.</p>

Alkaptonuria and lumbar disc herniation

2003 ◽  
Vol 98 (1) ◽  
pp. 87-89 ◽  
Author(s):  
Akbar Farzannia ◽  
Ghaffar Shokouhi ◽  
Shahram Hadidchi
Keyword(s):  
Lumbar Disc Herniation ◽  
Disc Herniation ◽  
Lumbar Disc ◽  
Homogentisic Acid ◽  
Acid Oxidase ◽  
Content Type ◽  
Discal Herniation ◽  
Black Discoloration ◽  
Fine Print

✓ Alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). The authors report the cases of three patients with lumbar disc herniation who underwent discectomy and in whom the nucleus pulposus was discovered to be black. Alkaptonuria was diagnosed after discectomy. Discal herniation requiring surgery is unusual in alkaptonuria, with only a few reports. The symptoms in the three patients disappeared after surgery and no symptoms were demonstrated on follow-up examination.

Electron Microscopic and Isozyme Study of a Case of Ochronosis

1972 ◽  
Vol 30 ◽  
pp. 88-89
Author(s):  
Jay W. Cha ◽  
Perry J. Melnick
Keyword(s):  
Benzene Ring ◽  
Enzyme System ◽  
Homogentisic Acid ◽  
Degenerative Changes ◽  
Acid Oxidase ◽  
Electron Microscopic ◽  
Tyrosine Metabolism ◽  
Collagenous Tissues

Hereditary ochronosis in very few cases has been examined electron microscopically or histochemically. In this disease homogentisic acid, a normal intermediary of tyrosine metabolism, forms in excessive amounts. This is believed to be due to absence or defective activity of homogentisic acid oxidase, an enzyme system necessary to break the benzene ring and to further break it down to fumaric and acetoacetic acids. Ochronotic pigment, a polymerized form of homogentisic acid, deposits mainly in mesenchymal tissues. There has been a question whether the pigment originates from the collagenous tissues, or deposits passively, where in contrast to melanin it induces degenerative changes.

scholarly journals HOMOGENTISIC ACID OXIDASE

1955 ◽  
Vol 212 (2) ◽  
pp. 565-582
Author(s):  
Dana I. Crandall
Keyword(s):  
Homogentisic Acid ◽  
Acid Oxidase

scholarly journals Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

2009 ◽  
Vol 30 (12) ◽  
pp. 1611-1619 ◽  
Author(s):  
Thierry Vilboux ◽  
Michael Kayser ◽  
Wendy Introne ◽  
Pim Suwannarat ◽  
Isa Bernardini ◽  
...  
Keyword(s):  
Homogentisic Acid ◽  
Mutation Spectrum ◽  
Acid Oxidase

scholarly journals Symptomatic thoracic ossification of the ligamentum flavum in a patient with ankylosing spondylitis: Report of a case and review

2021 ◽  
Vol 12 ◽  
pp. 596
Author(s):  
Abolfazl Rahimizadeh ◽  
Parviz Habibollahzadeh ◽  
Walter L. Williamson ◽  
Housain Soufiani ◽  
Mahan Amirzadeh ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Ankylosing Spondylitis ◽  
Spinal Cord Compression ◽  
Marked Improvement ◽  
Ligamentum Flavum ◽  
Cord Compression ◽  
Case Description ◽  
Thoracic Spinal Cord ◽  
Decompressive Laminectomy ◽  
Thoracic Spinal

Background: Thoracic spinal cord compression due to both ankylosing spondylitis (AS) and ossification of the ligamentum flavum (OLF) is rare. Case Description: A 33-year-old male with AS presented with a paraparesis attributed to MR documented T9-T10 OLF/stenosis. He was successfully managed with a decompressive laminectomy; this resulted in marked improvement of his deficit. Conclusion: Thoracic OLF and AS rarely contribute T9-T10 spinal cord compression that may be readily relieved with a decompressive laminectomy.

scholarly journals Regarding Failure of Percutaneous Remodeling of the Ligamentum Flavum and Lamina for Neurogenic Claudication

Neurosurgery ◽  
2012 ◽  
Vol 71 (2) ◽  
pp. E525-E526 ◽  
Author(s):  
Bohdan W. Chopko
Keyword(s):  
Ligamentum Flavum ◽  
Neurogenic Claudication

Decreased Binding of 14C-Homogentisic Acid induced by Ascorbic Acid in Connective Tissues of Rats with Experimental Alcaptonuria

Nature ◽  
1970 ◽  
Vol 228 (5273) ◽  
pp. 770-771 ◽  
Author(s):  
THOMAS J. LUSTBERG ◽  
JOSEPH D. SCHULMAN ◽  
J. EDWIN SEEGMILLER
Keyword(s):  
Ascorbic Acid ◽  
Homogentisic Acid ◽  
Connective Tissues

Extradural spinal depositions of urates producing paraplegia

1973 ◽  
Vol 39 (5) ◽  
pp. 656-658 ◽  
Author(s):  
John Litvak ◽  
Walter Briney
Keyword(s):  
Ligamentum Flavum ◽  
Cauda Equina ◽  
Decompressive Laminectomy ◽  
Content Type ◽  
Fine Print

✓ A case of paraplegia is reported that responded to decompressive laminectomy and removal of a urate-laden ligamentum flavum compromising the cauda equina.

Sign in / Sign up

Export Citation Format

Share Document