Endogenous ochronosis with a fatal outcome.

BACKGROUND: Endogenous ochronosis (EO) is an autosomal recessive inherited disorder where there is incomplete oxidation of tyrosine and phenylalanine due to a lack of the enzyme homogentisic acid oxidase. OBJECTIVE: We report a singular observation of EO with a fatal outcome. CASE REPORT: We report the case of a 46-year-old man born to consanguineous parents with a medical history of recurrent renal colic and chronic nonspecific arthropathy. On clinical examination, slate blue pigmentation was seen on the cheeks, forehead, and nose, as well as blue-gray patches on all fingernails and bluish discoloration of the gums. Familial investigation revealed that his sister had similar pigmentation on the ears, hands, and fingernails. Histologic examination of a biopsy specimen from a pigmented lesion showed a dermal deposit of an acellular, eosinophilic material without cell reaction. Based on the clinical and histopathologic data, combined with the family medical history, our patient was considered to have EO with mucocutaneous, articular, and renal involvement. Unfortunately, the diagnosis was late because our patient died a few months later of terminal renal failure. CONCLUSION: Skin signs are the hallmarks of EO and must alert the clinician to look for involvement of vital organs.

[Usefulness of magnetic resonance imaging in the diagnosis of early rheumatoid arthritis: a prospective study of 20 cases]. / Intérêt de l'Imagerie par Résonance Magnétique dans le diagnostic des formes débutantes de la Polyarthrite Rhumatoïde : Etude prospective à propos de 20 cas.

BACKGROUND: Diagnosing early rheumatoid arthritis is difficult and radiographic signs are often late. MRI detects erosions at an early stage and visualizes synovitis, bone edema and tenosynovitis. AIM: To assess the value of MRI for diagnosis of early forms of rheumatoid arthritis. METHODS: Prospective study involving 20 patients who had non erosive rheumatoid arthritis lasting for less than 2 years. MRI of the hand was performed by sequences coronal and axial T1-weighted, T2 with saturated fat signal (FatSat) FatSat and T1 with gadolinium injection. RESULTS: The median age of patients was 52 years and sex ratio M/F of 0.05. The median disease duration was 9 months. Ten patients had antibodies Anti-Cyclic citrullinated protein positive. The MRI was abnormal in 75% of patients. This review found 36 erosions which 50% were in carpal bones, 55 joints with synovitis mainly localized midcarpal and metacarpophalangeal. Bone edema was found mainly in carpal bones. Tenosynovitis affected most frequently the flexor tendons. Seventy percent of patients without anti-Cyclic citrullinated protein had a pathological MRI. CONCLUSION: MRI has an important role in detecting infraradiological lesions in early RA. This contributes to early diagnosis and initiation effective treatment.

[Carpal tunnel syndrome. A Tunisian series]. / Le syndrome du canal carpien : A propos d'une série hospitalière Tunisienne.

BACKGROUND: Carpal tunnel syndrome (CTS) is the most frequent ductal syndrome. Few epidemiological studies in Tunisia exist. AIM: To describe clinical, biological and electromyographic data of Tunisian patients with CTS METHODS: A retrospective study including 80 patients with CTS, during the period going from 2009 to 2010. RESULTS: A female predominance was observed with an average age of 52 years. Acroparesthesia was the main complaint, followed by night awakenings and muscular weakness. Physical examination showed a positive Tinel (91.2%) and Phalen (82.5%) tests, a decrease of tactile sensitivity (26.2%) and a thenar amyotrophy (10%). The Electromyography was abnormal in 85% cases. The most revealing lesions were demyelinating, sensitivo-motor predominance (66%) abnormalities. on Biology, hyperglycemia (12.5%), hyperuricemia (8.7%) and renal failure (7.5%) were the most observed. Medical treatment was drawn on analgesics and anti-inflammatory for 90% of our patients. Local steroid injections were indicated for 35% of patients, leading to a clinical improvement in 90% of cases. Surgery was made in only 13.8% patients. CONCLUSION: Tunisian patients with CTS were female patients, housewifes with obesity or overweight. No other differences were observed in comparison with the literature.

Systemic lupus erythematosus induced by interferon ß1 therapy in a patient with multiple sclerosis.

Drug-induced lupus erythematosus is defined as a lupus-like syndrome temporally related to a drug exposure. We report a 34-year-old woman with multiple sclerosis who developed, while being treated with interferon ß-1a, myalgia and associated with wrist synovitis. Clinical and immunologic investigations were in favor of systemic lupus erythematosus. Interferon therapy was maintained. Under corticosteroids and antipaludeen treatment, the patient did not develop any other lupic manifestations.

[Rheumatic manifestations of genetic hemochromatosis]. / Les manifestations ostéo-articulaires de l'hémochromatose.

BACKGROUND: Rheumatic manifestations of genetic hemochromatosis are frequent with axial or peripheral arthropathies (mono-, oligo- or polyarticular). These manifestations are characterized by articular damage and osteoporosis. AIM: To review the rheumatic manifestations of genetic hemochromatosis. METHODS: A narrative review of literature. RESULTS: The diagnosis should be brought to mind when we discover arthropathy resembling degenerative joint disease with involvement of unusual articular sites, almost identical to the arthropathy in calcium pyrophosphate dihydrate crystals deposition disease (chondrocalcinosis). CONCLUSION: There is a significant bone loss in HC that cannot solely be explained by hypogonadism or cirrhosis and must lead to measure bone mass density to each patient with HC.

Bone mineral density in healthy Tunisian women.

Interpretation of densitometric results requires a comparison with reference bone mineral density (BMD) values of normal age and sex-matched persons. Thus the aim of this study was to determine these values for healthy Tunisian women, to estimate the prevalence of osteoporosis and to compare our findings with other populations. A cross-sectional study of 1378 Tunisian women aged between 20 and 96 years was carried out using DXA (GE-Lunar Prodigy). Subjects with suspected conditions affecting bone metabolism were excluded. Measurements were taken at the lumbar spine and femoral neck. These values were expressed at T-scores, with reference to the mean BMD values of the group aged 20-40 years. The peak bone mass, estimated in this age group was 1.174+0.127 g/cm(2) at the lumbar spine and 1.016+/-0.118 g/cm(2) at the femoral site. It was attained respectively within the age of 25 years and 36 years. For both sites, the expected decline in BMD was shown when the successive age groups [40-49 years] and [50-59 years] were compared. Bone loss was rapid during the first 5 years after menopause. Thereafter BMD declined slowly but continually. The prevalence of osteoporosis in the women over 50 years of age, taking account of peak bone mass observed in our cohort, was 23.3% at the spine and 17.3% at the femoral neck with a combined prevalence of 23.4%. These rates attained respectively 30.4%, 11.8% and 32.9% when we considered the Italian values, which demonstrate the variability of osteodensitometric depending to the reference population adopted.

Distribution of HLA-B27 and its alleles in patients with reactive arthritis and with ankylosing spondylitis in Tunisia.

The purpose of the present study is to investigate the frequency of HLA-B27 and its alleles in reactive arthritis (ReA) and in ankylosing spondylitis (AS) in Tunisia. HLA-B27 alleles were typed by PCR amplification with sequence-specific primers. We studied 17 patients with ReA associated with urethritis or with gastrointestinal infection; 42 HLA-B27-positive patients with AS and 100 healthy controls. Eleven ReA patients (67.7%) were HLA-B27 positive. There was an increased frequencies of HLA-B27 (P = 7.76 x 10(-12), OR = 59.30) and a moderate increase of HLA-B51 (P = 0.015; OR = 4.91) alleles in ReA patients when compared with healthy controls. Four B27 subtypes were identified: B*2702, 05, 09 and B*2712. The distribution of these alleles in the ReA patients was 37.5% for B*2702 and B*2705. Only these two subtypes were detected in 18 (42.8%) and 24 (57.1%), respectively, of the AS patients. B*2709 and B*2712 were relatively rare in ReA patients and were identified in one case each. Our results showed a restricted number of HLA-B27 subtypes associated with ReA and AS. B*2702 and 2705 were common in ReA and AS patients.

Detection and frequency of Chlamydia trachomatis DNA in synovial samples from Tunisian patients with reactive arthritis and undifferentiated oligoarthritis.

We aimed to determine the frequency of Chlamydia trachomatis DNA in the synovial compartment of 34 arthritic patients. Chlamydia trachomatis DNA was detected using a nested PCR targeting the cryptic plasmid, the 16S rRNA gene and the outer membrane protein 1 gene. The presence of serum immunoglobulin (Ig)G and IgA antibodies against C. trachomatis was studied by a microimmunofluorescence assay and by an enzyme-linked immunosorbent assay, respectively. Synovial samples from 20 of 34 (59%) patients [nine with reactive arthritis (ReA), seven with undifferentiated oligoarthritis (UOA), two with rheumatoid arthritis and two with osteoarthritis] were positive for at least one C. trachomatis DNA sequence by nested PCR. The high sensitivity results most likely from the combination of a standardized automated MagNA Pure extraction method, PCR targeting three different C. trachomatis genes and the screening for C. trachomatis in synovial tissue and fluid samples. There was no correlation between the presence of C. trachomatis DNA in the joint and a Chlamydia-specific serologic response. Our data support that PCR is the method of choice to establish the diagnosis of Chlamydia-induced arthritis in patients with ReA. We suggest that this diagnosis might also be considered in C. trachomatis-positive patients previously classified as UOA.

Hemarthrosis revealing congenital factor XI deficiency.

Congenital factor XI deficiency (also known as the Rosenthal syndrome or hemophilia C) manifests as minor bleeding, usually after trauma or surgery. We report a case in which bilateral knee hemarthrosis was the first manifestation. The patient presented at 32 years of age with a 2-year history of mechanical pain and intermittent swelling in both knees. Knee aspiration recovered blood-tinged fluid. The laboratory workup showed severe factor XI deficiency. Replacement therapy with fresh frozen plasma was effective. Tests in the family showed factor XI deficiency in the patient's sister.

Osteomalacia in a patient with primary intestinal lymphangiectasis (Waldmann's disease).

Primary intestinal lymphangiectasis (PIL), also known as Waldmann's disease, is a rare protein-losing enteropathy characterized by abnormal enlargement of the lymphatic ducts in the bowel wall. The symptoms usually start in early infancy. We report a case of osteomalacia in a 63-year-old patient with delayed-onset of PIL, for which she was on dietary treatment. She presented with a 3-year history of mechanical pain in the back and pelvis. Mild ascites and edema with functional impairment of the lower limbs were noted. The neurological evaluation was normal. Blood tests showed hypocalcemia, hypophosphatemia, alkaline phosphatase elevation, and evidence of intestinal malabsorption. Radiographs of the pelvis disclosed a fracture, Looser's zones in the iliopubic rami and left femoral neck, and a washed-out appearance of the vertebras. Dual-energy X-ray absorptiometry showed bone loss with T-score values of -1.2SD at the lumbar spine and -2.5SD at the femoral necks. A diagnosis of osteomalacia related to vitamin D deficiency was given. Serum 25-OH-vitamin D was 18.2ng/ml (normal, 20-40ng/ml) and serum parathyroid hormone was 620pg/ml (normal, 15-65pg/ml), suggesting secondary hyperparathyroidism. Intramuscular vitamin D was given, together with oral calcium and an adequate diet. At follow-up 8 months later, small improvements were noted in the symptoms and absorptiometry findings.