Case ReportAlcaptonuria with lumbar disc prolapse: case study and review of the literature
Introduction
Alcaptonuria is a very rare hereditary metabolic disease with an incidence of approximately 1 in 1 million individuals [1], [2]. It is inherited as an autosomal recessive trait and is characterized by an absence of the enzyme homogentisic acid oxidase, which is involved in the metabolic pathway of aromatic amino acids in the liver and the kidneys and subsequent excretion of homogentisic acid in urine [3], [4] or is accumulated in the tissues. The oxidation and the polymerization of homogentisic acid leads to black coloration of standing urine and all connective tissues where it is deposited [3], [4]. Pigmentation may be seen on the skin, the teeth, the nails, and the patient's buccal mucosa; this condition is called ochronosis [5], [6]. In ochronosis, the pigment is deposited with great affinity in the hyaline cartilages of the large joints, the sclera, and the intervertebral discs [3]. With the advance of age, usually in the third and fourth decade, severe degenerative disorders occur in the joints and the spinal column, mainly in the thoracic and the lumbar area [7]. The clinical manifestations resemble those of rheumatoid arthritis, but the radiological investigations indicate severe osteoarthritis and ankylosis of the affected segments. Although disc degeneration is common in ochronosis, prolapsed lumbar disk is unusual, and there are only single cases of surgically treated patients published in the literature.
Section snippets
Case report
A 33-year-old patient with confirmed alcaptonuria, married with a daughter aged 10 who had also suffered from alcaptonuria for 1 year, complained of pain in the lower back and the two lower extremities. He had been treated on an outpatient basis by his family physician and a neurologist without success, and his pain was attributed to his main illness.
The neurological investigations revealed marked vertebral syndrome in the lumbar area, positive Lasègue's sign, bilateral hypestesia, and
Discussion
Alcaptonuria is a rare metabolic disease with an incidence of approximately 1 in 1 million individuals, characterized by homogentisic aciduria, arthritis, and ochronosis. It is known that it is inherited as an autosomal recessive trait [8], [9]. The disease was established in Egyptian mummies in 1500 BC [8]. In 1584, Scribonius first described a child with black urine, and in 1866 Virchow reported several cases and introduced the term ochronosis to identify the condition characterized by
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