Ochronosis with cardiovascular involvement: a case report.

Ochronosis is a rare autosomal-recessive disease, characterized by increased homogentisic acid (HGA) and substrates due to deficiency of HGA oxidase. The most common clinical presentations are homogentisic aciduria, blue-black pigment accumulation in collagen tissues, large joint arthropathies and degenerative disk diseases. However, the disease may exert very large spectrum with various system involvements. In this article, a patient who was admitted by progressed musculoskeletal system pains and diagnosed as ochronosis, especially with emerging cardiovascular involvement, was presented.

A case with cauda equina syndrome due to bacterial meningitis of anterior sacral meningocele.

STUDY DESIGN: A case of a patient with anterior sacral meningocele that was misdiagnosed as perianal abscess is presented. After the transrectal aspiration, the patient developed meningitis and cauda equina syndrome. OBJECTIVE: To report a rare case of anterior sacral meningocele in which primary presentation was mimicking perianal abscess. SUMMARY AND BACKGROUND DATA: Anterior sacral meningocele is a rare example of spinal dysraphism. It is created by a herniation of a dural sac through a defect in the sacral wall. It is usually asymptomatic until later decades. Most of the presenting symptoms are related to the pelvic organs. In the management of anterior sacral meningocele, surgical treatment is necessary. METHODS: The reported case is that of a 35-year-old female with cauda equina syndrome due to bacterial meningitis of the anterior sacral meningocele. At the beginning, she presented signs and symptoms resembling perianal abscess. She was misdiagnosed as anorectal abscess according to the computed tomography findings. The patient then underwent transrectal aspiration. Following the aspiration, meningitis and cauda equina syndrome were developed. Meningitis was treated with the appropriate antibiotics, and the patient underwent rehabilitation for paraplegia and bladder and bowel incontinence. RESULTS: Following the rehabilitation program, the patient has recovered completely within 8 months. CONCLUSION: This case represents a rare example of anterior sacral meningocele in which the patient was misdiagnosed as perianal abscess. Meningitis either iatrogenic or spontaneous may occur during the course of anterior sacral meningocele. Once it has occurred, it may result in severe morbidity and mortality. However, our case had been treated effectively, and she had regained her health with rehabilitation program.