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We describe an adolescent with systemic lupus erythematosus (SLE) and pseudotumor cerebri (PTC) associated with diffuse white matter lesions (leukoencephalopathy) on neuroimaging studies. Although the association between SLE and PTC has been reported previously in 21 cases, the findings of leukoencephalopathy is known in only one other patient. [ABSTRACT FROM AUTHOR]

Osteoblastoma is a typically noncancerous bone tumor commonly found in the spine and long bones of the arms and legs. It is exceedingly rare for this tumor to occur in the paranasal sinuses. We present a case of osteoblastoma in a 13-year-old boy affecting the ethmoid sinus, which manifested as exophthalmos. A computed tomography scan revealed an expansive lesion in the right ethmoid sinus, causing compression and displacement of the orbital contents to the right. The lesion exhibited a mix of ground glass opacity and dense bone. On magnetic resonance imaging, the less dense areas of the tumor showed strong enhancement, while the densely sclerotic regions appeared as signal voids on all imaging sequences. A combined transorbital and transnasal approach was performed to remove the tumor. Histologically, the tumor consisted expansile growth surrounded by a sclerotic rim of inter-anastomosing trabeculae of woven bone set within loose edematous fibrovascular stroma. This case highlights the unusual occurrence of osteoblastoma in the ethmoid sinus, a location seldom associated with this type of tumor, and adds to the existing literature on this topic and offers a new surgical approach to managing this entity., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Hemophagocytic lymphohistiocytosis (HLH) is rare and life threatening syndrome. There are only a few reported cases of HLH with GI symptoms. We describe the case of an 18 months old boy who presented with a history of fever for 40 days, abdominal distention and hepatosplenomegaly. Abdominal x-ray showed a pneumoperitoneum. Urgent laparotomy was done which revealed an isolated cecal perforation. The histopathological findings in the subsequent resected bowel was HLH with evidence of positive EBV Barr infection.

We describe the clinical and laboratory features, treatment, and outcome of five children with cutaneous leukocytoclastic vasculitis associated with salmonella infection seen at our hospital.

We retrospectively reviewed 19 patients (11 male, 8 female) with infantile systemic hyalinosis (ISH) seen at a tertiary care hospital. Fifteen patients (83.3%) presented in the neonatal period. The referral diagnosis was inaccurate in 14 patients (73.7%). Thirteen patients were products of first-degree cousin marriages (68%) and 5 families had more than one affected child. All patients had painful joint contractures and typical mucocutaneous changes (hyper-pigmented sclerodermatous skin over the knuckles and malleoli, gingival hyperplasia, subcutaneous and perianal fleshy nodules). Growth failure was noted in all of them and 39% had profuse diarrhea, 72% had low serum albumin. Radiological findings included osteopenia, periosteal reaction and osteolytic lesions. Tissue biopsy was consistent with the diagnosis in the 8 patients who had the biopsies. Despite aggressive management with physiotherapy and different medications (including NSAIDs, penicillamine and methotrexate), the disorder was progressive and none of them showed improvement. 16 patients died with a mean age of 11 months and only 3 are alive with a mean age of 20 months. This report represents the largest series of ISH. Our data suggests that ISH is a commonly diagnosed disorder in Saudi Arabia and among Arabs.

Background: Diseases exhibiting osteolysis in children are rare hereditary conditions. Several types have been recognised with different clinical manifestations. One type includes subcutaneous nodules, arthropathy and osteolysis and has been termed NAO syndrome. Previous radiological reports have described the affected bones, usually the carpal and tarsal regions, but a detailed analysis of the radiological findings of both the axial as well as the appendicular skeleton has not been reported., Objectives: To describe the radiological findings in a large group of children with an autosomal recessive disease characterized by nodules, familial arthropathy and osteolysis., Materials and Methods: The study comprises 14 patients from 9 families and all patients had the triad of nodulosis, arthropathy and osteolysis (NAO)., Results: The most common radiological manifestations were osteopenia, undertubulation of long bones, arthritic changes, sclerotic sutures of the calvaria, osteolysis and muscle contractures. Other common findings were squared vertebrae, broad medial clavicles and brachycephaly. Progress of disease was documented in more than half of the patients., Conclusions: Our study is the first report of the detailed radiological findings of NAO syndrome. In NAO syndrome, both the axial and appendicular skeleton are involved

Objective: To determine the rate and nature of infection in a cohort of children with SLE., Methods: Records of 70 children with SLE were reviewed for documentation of infections. All patients with infection seen between 1990 and 1998 were included. Data extracted comprised demographics and clinical features including the disease activity index (SLEDAI), detailed descriptions of therapy, and response to antibiotic therapy. Infections were identified and catagorized as class I (minor) or class II (major)., Results: A total of 29 patients (41%) had infections; 73% had class I and 27% had class II infections. The most common cause of class II infection was bacteremia (45%), while urinary tract infection was more frequent (38%) in class I infections. There was no association between the severity of infection and various potential risk factors., Conclusion: Our data confirm that infection is common among children with SLE. There were no deaths directly related to infection.

The inherited osteolyses or 'vanishing bone' syndromes are a group of rare disorders of unknown etiology characterized by destruction and resorption of affected bones. The multicentric osteolyses are notable for interphalangeal joint erosions that mimic severe juvenile rheumatoid arthritis (OMIMs 166300, 259600, 259610 and 277950). We recently described an autosomal recessive form of multicentric osteolysis with carpal and tarsal resorption, crippling arthritic changes, marked osteoporosis, palmar and plantar subcutaneous nodules and distinctive facies in a number of consanguineous Saudi Arabian families. We localized the disease gene to 16q12-21 by using members of these families for a genome-wide search for homozygous-by-descent microsatellite markers. Haplotype analysis narrowed the critical region to a 1.2-cM region that spans the gene encoding MMP-2 (gelatinase A, collagenase type IV; (ref. 3). We detected no MMP2 enzymatic activity in the serum or fibroblasts of affected family members. We identified two family-specific homoallelic MMP2 mutations: R101H and Y244X. The nonsense mutation effects a deletion of the substrate-binding and catalytic sites and the fibronectin type II-like and hemopexin/TIMP2 binding domains. Based on molecular modeling, the missense mutation disrupts hydrogen bond formation within the highly conserved prodomain adjacent to the catalytic zinc ion.

Objective: To investigate the parental knowledge of pediatric rheumatic diseases in general, and in particular information regarding their children's diseases. To focus on the important role of health education in understanding these chronic diseases, and formulate a future plan for establishing a general public education program., Methods: One hundred sets of parents, of children with established rheumatic diseases with mean duration of illness, (4.1 +/- 2.83), a mean child age (9.9 +/- 3.15) years, were given a 20 multiple choice questionnaire during their routine visit to the Pediatric Rheumatology Clinic and Physiotherapy Department or to the pediatric ward at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, over a 6-month period between December 1998 and June 1999. The questionnaire addressed 4 main areas: 1. parental awareness regarding their children's diagnosis and duration, 2. source of information and parental satisfaction, 3. general knowledge about rheumatic diseases and 4. knowledge about medical and physical therapy. The total possible score is 23., Results: The overall mean score is 11.6. The mean total score is not affected by the parental education level. The majority of parents have wrong beliefs, regarding rheumatic diseases. The treating physician is the main source of parental information and in the majority of the parents, this information is satisfactory., Conclusion: The questionnaire is a simple and easy test to investigate parental knowledge regarding pediatric rheumatic diseases. The survey shows the need for health education programs and a future general public health education plan to improve awareness of pediatric rheumatic diseases and maybe other chronic illness.

We describe a girl who initially presented with linear scleroderma. Five and a half years later she developed systemic lupus erythematosus (SLE). Previous descriptions of the coexistence of linear scleroderma and SLE in childhood are reviewed.

We describe 10 patients (6 females and 4 males) from 6 unrelated families with an autosomal recessive disease characterized by simultaneous presentation of nodulosis, arthropathy and osteolysis. They were followed up regularly at King Faisal Specialist Hospital and Research Center in Saudi Arabia for clinical evaluation, serial blood work-up, and evaluating radiological changes. Nodulosis and arthropathy were the clinical criteria for inclusion in this study, and the ten patients fulfilled these criteria. All patients had nodulosis and distal arthropathy. Eight patients (80%) presented with deformed hands and four (40%) with painful hands. All patients had parents who were first cousins and three families had more than one affected child, the finding suggesting autosomal recessive inheritance. Osteopenia and undertubulation of bones distally more than proximally, and upper limbs affected more often than lower limbs, were found in all patients. Osteolysis was seen in carpal and tarsal bones. Other common findings were sclerotic cranial sutures, brachycephaly, and broad medial clavicles. This novel phenotype should be considered in the differential diagnosis of chronic arthritis. Familial arthropathies are more often seen in communities where interfamilial marriage is common. Such a collection of patients is ideal for homozygosity mapping of the disease locus., (Copyright 2000 Wiley-Liss, Inc.)

A 6-year-old boy developed hemophagocytic syndrome during the recurrent course of Kawasaki disease. Despite the appropriate treatment modalities for Kawasaki disease, he developed pancytopenia, marked hepatosplenomegaly, high-grade fever, hyperferritinemia, hypertriglyceremia, and evidence of hemophagocytosis in the liver biopsy. Although the course was stormy, he responded well to a combination therapy of corticosteroids, etoposide VP16, and granulocyte colony-stimulating factor G-CSF. The clinical course and the treatment given were compared with the previous reported cases.

Altered growth and function of synoviocytes, the intimal cells which line joint cavities and tendon sheaths, occur in a number of skeletal diseases. Hyperplasia of synoviocytes is found in both rheumatoid arthritis and osteoarthritis, despite differences in the underlying aetiologies of the two disorders. We have studied the autosomal recessive disorder camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP; MIM 208250) to identify biological pathways that lead to synoviocyte hyperplasia, the principal pathological feature of this syndrome. Using a positional-candidate approach, we identified mutations in a gene (CACP) encoding a secreted proteoglycan as the cause of CACP. The CACP protein, which has previously been identified as both 'megakaryocyte stimulating factor precursor' and 'superficial zone protein', contains domains that have homology to somatomedin B, heparin-binding proteins, mucins and haemopexins. In addition to expression in joint synovium and cartilage, CACP is expressed in non-skeletal tissues including liver and pericardium. The similarity of CACP sequence to that of other protein families and the expression of CACP in non-skeletal tissues suggest it may have diverse biological activities.

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Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich secreted proteins with roles in cell growth and differentiation. Cell-specific and tissue-specific differences in the expression and function of different CCN family members suggest they have non-redundant roles. Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the autosomal recessive skeletal disorder progressive pseudorheumatoid dysplasia (PPD; MIM 208230). PPD is an autosomal recessive disorder that may be initially misdiagnosed as juvenile rheumatoid arthritis. Its population incidence has been estimated at 1 per million in the United Kingdom, but it is likely to be higher in the Middle East and Gulf States. Affected individuals are asymptomatic in early childhood. Signs and symptoms of disease typically develop between three and eight years of age. Clinically and radiographically, patients experience continued cartilage loss and destructive bone changes as they age, in several instances necessitating joint replacement surgery by the third decade of life. Extraskeletal manifestations have not been reported in PPD. Cartilage appears to be the primary affected tissue, and in one patient, a biopsy of the iliac crest revealed abnormal nests of chondrocytes and loss of normal cell columnar organization in growth zones. We have identified nine different WISP3 mutations in unrelated, affected individuals, indicating that the gene is essential for normal post-natal skeletal growth and cartilage homeostasis.

Transverse myelitis is a rare but serious complication of systemic lupus erythematosus (SLE). We describe the youngest patient with transverse myelitis ever recorded in SLE. Clinical improvement was observed after prednisone and cyclophosphamide therapy. The English language literature from 1966 to the present on the subject are reviewed.

A retrospective analysis of 25 Arab patients with juvenile dermatomyositis (JDMS) was conducted between 1988 and 1996. The mean age at disease onset was 8.25 years (range 1.5-15 yrs) with a male: female ratio of 1.5:1. The disease duration before diagnosis was 1-108 months. Two patients had a family history of JDMS. The clinical features included fever in 14 patients (56%), weight loss in 20 (80%), muscle weakness in all 25 (100%), and muscle pain in 14 (56%). Skin lesions included Gottron's papules in 15 patients (60%), heliotrope in 13 (52%), erythematous malar rash in 8 (32%), and pigmentary changes in 12 (48%). Seventeen of the 25 patients had arthralgia (68%) and 16 patients had arthritis (64%). Gastrointestinal symptoms were noted in 19 patients (76%). Myocarditis with cardiac failure was the initial presentation of 1 patient, while 2 had conduction defect. Twelve patients (48%) had respiratory symptoms. The course of the disease was complicated by calcinosis in 10 patients (40%). All of the patients were treated with prednisone; 15 were also treated with methotrexate. The duration of follow up ranged from 6-108 months (mean 54.5 months). Twenty-three patients improved, including those who had calcinosis at the time of presentation, with a current muscle power of 4/5 in 10 patients (40%) and 5/5 in 13 patients (52%). No deaths were reported in our series and no patients are currently bedridden.

Objective: To delineate the clinical features in patients with the autosomal recessive camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) and to determine the location of the involved gene., Methods: Eight affected individuals (ages 2-15 years) with CACP from 4 consanguineous kindreds were clinically evaluated. Four patients are newly described and 4 have been reported previously. Findings were compared with those in 21 other previously reported cases. DNA obtained from the 8 affected patients and their available siblings and parents was used in a genome-wide search for linkage., Results: Congenital camptodactyly and childhood-onset noninflammatory arthropathy were present in all affected patients. Seven patients developed bilateral coxa vara deformity, and 1 developed coxa magna with cystic erosions. Two of the patients also had symptoms or signs of pericarditis. A genome-wide search for linkage identified homozygosity for a series of genetic markers on human chromosome 1q in all affected patients. The marker D1S191 yielded a maximum logarithm of the odds ratio (LOD score) of 3.3 at theta = 0. The CACP gene lies within a 1.9-cM candidate interval defined by the markers D1S2107 and D1S222., Conclusion: The principal features of the CACP syndrome are congenital or early-onset camptodactyly and childhood-onset noninflammatory arthropathy. Coxa vara deformity or other dysplasia associated with progressive hip disease may develop over time. Clinical pericarditis may also occur. A locus responsible for causing CACP syndrome is assigned to a 1.9-cM interval on human chromosome 1q25-31 by homozygosity mapping. This now facilitates the identification of the responsible gene and permits testing for locus homogeneity in other CACP kindreds.

Objectives: The objective of this study was to characterize the clinical picture of Behçet's disease (BD) in children., Study Design: A questionnaire was completed by five BD specialists from Turkey, France, Iran, or Saudi Arabia. We first reviewed 86 cases retrospectively with a specially designed computerized database and then selected 65 who met the criteria of the International Study Group for BD, which include buccal aphthosis plus at least two among recurrent genital aphthosis, eye lesions, skin lesions, and positive pathergy test. The remaining 21 patients, who had features suggestive of BD but did not fulfill the international criteria, were analyzed separately and then compared with the other 65 patients., Results: BD affected boys and girls equally. The clinical picture frequently included mucocutaneous lesions. Uveitis was less frequent than in adults but carried a poor prognosis, especially in male patients (p < 0.001). The mortality rate (3%) was related to large vessel involvement. Familial cases were particularly frequent (15%). Erythema nodosum and skin hypersensitivity were common in Turkish patients, whereas neuro-BD was more frequent in French and Saudi Arabian patients. Patients who did not fulfill the international criteria had significantly less genital aphthosis (p < 0.01), less skin lesions or hypersensitivity (p < 0.01), and less uveitis (p < 0.01)., Conclusion: BD in children is similar to BD in adults. The high frequency of familial cases calls for further investigation of the immunogenetic factors that may favor early expression of the disease.

The immune response identified by the induction of Th1/Th2 cells plays a critical role in the pathogenesis of various inflammatory and immune disorders. We have determined that in children with systemic onset juvenile rheumatoid arthritis (JRA), peripheral blood mononuclear cells (PBMC) constitutively and after stimulation with various antigens in vitro induce a higher secretion of interleukin-4 (IL-4) and IL-10 with a characteristic deficiency of IL-2 and interferon-gamma (IFN-gamma). This cytokine pattern is a representative of a mixed Th1/Th2 cell response in JRA. The CD3/CD28 costimulatory molecule was found to be a potent inducer of IL-4 and IL-10 secretion. PBMC-derived augmented IL-10 secretion was inhibited by exogenous Th1 cell type recombinant cytokines (IL-2, IL-12, and IFN-gamma). Although IL-10 inhibits PBMC-induced proinflammatory IL-1alpha and tumor necrosis factor-alpha secretion, it had no major effect on IL-6 production. The finding of a distinctly enhanced mixed Th1/Th2 cell response cytokine (IL-4 and IL-10) pattern in JRA provides a framework for developing strategies for immunologic intervention in this rheumatic disorder in children., (Copyright 1998 Academic Press.)

Objective: To determine Th1/Th2 cell response cytokine production profile in Behçet's disease (BD)., Methods: Interleukin 2 (IL-2), interferon-gamma (IFN-gamma) and IL-12 (Th1 cell response), and IL-4, IL-10, and IL-13 (Th2 cell response) cytokine production from anti-CD3/anti-CD40 stimulated peripheral blood mononuclear cells (PBMC) were measured by ELISA., Results: PBMC from patients with BD produced higher levels of IL-4, IL-10, and IL-13 (Th2 cell response), almost normal levels of IL-2 (Th1 cell response), but highly deficient IFN-gamma and IL-12 (Th1 cell response). The additions of exogenous recombinant IFN-gamma to the anti-CD3 stimulated PBMC dramatically changed this pattern with enhanced IL-12 and concomitantly decreased IL-4 and IL-10 production., Conclusion: The immune system in BD may be characterized by a divergent cytokine production profile of mixed Th1/Th2 (Th0) cell type; IFN-gamma is critical in modulating the IL-4, IL-10, and IL-12 cytokine network pathway in this disease.

Background: Although rheumatoid arthritis (RA) of varying degrees of severity has been seen in our clinics, there is no statistical evidence of the magnitude of the problem in Saudi nationals. We conducted this study to determine the prevalence of RA in the Al Qassim Region of Saudi Arabia., Patients and Methods: Five thousand eight hundred and ninety-one Saudi adults, aged 16 years and over, were studied in a house-to-house survey in the Al Qassim Region., Results: Of the 5891 adults studied, 13 cases of RA were identified, using the criteria set for the diagnosis of RA by the American College of Rheumatology. Thirty-five percent of our patients showed positive rheumatoid factor., Conclusion: The prevalence of RA in Al Qassim was estimated at 2.2 per thousand people. It was also noted that the prevalence of the disease increased with age, and that it was more common in females.

A ten-year retrospective analysis of the clinical features and survival of 60 Saudi children with systemic lupus erythematosus (SLE) was made. All the patients fulfilled the 1982 American College of Rheumatologyâs revised criteria for SLE and had had the disease at or before the age of 16 years. The female to male ratio was 5:1, the mean age of onset was 12.1 years (range 1.6-16 years), and the mean duration of follow-up was 4.7 years (range 2.2-11). Thirty-eight patients (63%) were diagnosed correctly before referral to KFSH&RC or KKUH. The mode of presentation was as follows: 55 patients had musculoskeletal involvement (91.6%), 49 patients had skin involvement (81.6%), 40 patients had hematological abnormalities (66.6%), 39 patients had renal disease (65%), 10 patients had pulmonary involvement (16%), 23 patients had cardiovascular disease (38%) and 18 patients had central nervous system involvement. During the study period four patients died (6.6%)âtwo of renal failure, one from meningitis and one from severe sepsis. This is the largest collection of childhood systemic lupus erythematosus from the Middle East and it shows that SLE is more common in Saudis than was hitherto believed, and that it has a high rate of organ involvement.

Objective: Studies show an association between factor V Leiden and venous thrombosis. Since venous thrombosis is common in Behçet's disease (BD), we looked for an association between thrombosis in BD and the presence of factor V Leiden., Methods: Twenty-three patients with BD according to International Study Group criteria and 22 patients with rheumatoid arthritis by American College of Rheumatology criteria as controls participated in the study. Patients with BD and controls were tested for the presence of factor V Leiden by polymerase chain reaction (PCR) amplification of genomic DNA and by restriction enzymatic analysis of PCR products., Results: Three of 23 patients with BD were positive for factor V Leiden (13%). Among BD patients without thrombosis 0/15 were positive; among those with thrombosis 3 of 8 were positive (37.5%) for factor V. Only one patient with RA was positive for factor V Leiden. CONCLUSION. The presence of factor V Leiden in patients with BD may markedly increase the risk of thrombosis.

We retrospectively studied the charts of 115 Arab children with juvenile rheumatoid arthritis (JRA), all of whom satisfied the American College of Rheumatology (ACR) criteria for JRA. They were followed between 1978 and 1993 at King Faisal Specialist Hospital and Research Centre and King Khalid University Hospital in Riyadh, Saudi Arabia. All patients were followed up for at least 18 months. The female to male ratio was 1.2:1, and the mean age of onset of the disease was six years. Ninety of the patients were Saudis and the remainder were Middle Eastern Arabs. The mode of onset was systemic in 44%, polyarticular in 30%, and periarticular in 26%. Chronic uveitis was found in only two of the children (1.7%). Antinuclear antibody (ANA) was determined in 96 patients and was positive in 29 (30%). Amyloidosis was not detected in this study population. The clinical and laboratory manifestations of this disease are presented. This review shows that the spectrum of clinical presentation differs in Arab children from those in the West. Systemic and polyarticular onset subtypes were more common, and the incidence of uveitis and amyloidosis was lower. Whether this reflects a genuine difference in the pattern of the disease, or is due to bias in referral pattern, remains to be detected. The answer is currently being sought through an ongoing prospective study.

Behçet's disease is a chronic, relapsing, multisystem disease characterized by the clinical triad of genital ulcers, oral ulcers and ocular involvement. Twelve Saudi children are presented, all of whom satisfied the international criteria for the classification of Behçet's disease and whose initial manifestations appeared at or before the age of 16 years. The male-to-female ratio was 1.4:1. The mean age at onset was 11.5 years (range 7-16 years) and the mean duration of disease was 6.5 years (range 3-13 years). Oral ulcers were present in all patients (100%), genital ulcers in 11 patients (91%), ocular involvement in the form of anterior and/or posterior uveitis in 6 patients (50%), skin manifestations in 10 patients (83%), musculoskeletal symptoms in 9 patients (75%), and central nervous system involvement in 6 patients (50%). One patient had thrombophlebitis and another had pulmonary artery aneurysm. No renal, cardiovascular or gastrointestinal abnormalities were detected. The pathergy test was positive in 3/7 patients. HLA B5 (W51) typing was positive in 5/10 patients. This report of juvenile Behçet's disease in Saudi children suggests that this multisystem disease has an aggressive nature and should be considered in the differential diagnosis of childhood vasculitis in endemic areas.

Three hundred and seventy-six consecutive antinuclear antibody-positive sera were tested for anti-ds DNA antibody by using three commercial kits which use 125 I recombinant DNA (radioimmunoassay), highly purified calf thymus DNA (enzyme linked immunosorbent assay) and Crithidia lucilliae (immunofluorescence assay) as substrates. All patients' sera, after reviewing medical records, were classified into three broad groups: Group I (systemic lupus erythematosus), Group II (rheumatic diseases and rheumatoid arthritis), and Group III (nonspecific ANA antibody test positive). A sensitivity, specificity, positive predictive test value and negative predictive test value for Group I against Group II-III (generally these two groups of sera should not show any anti-ds DNA antibody) combined showed for Crithidia lucilliae (IF assay) 58.8%, 93.6%, 82% and 82%, for 125 I recombinant DNA (RIA) assay, 75.8%, 94%, 86.2% and 88.7% and calf thymus highly purified DNA (ELISA) assay using positive cut-off value >100 U/mL, 97.5%, 35%, 42.9% and 24%. The 125 I recombinant DNA (RIA) assay based on the principle of the Farr technique, which is still considered to be the gold standard for anti-ds DNA antibody detection, showed the best specificity and sensitivity among all three methods tested in this study.

Objective: The pathogenesis of Behçet's disease (BD) has not yet been determined. Several hypotheses have been postulated and cytokines that control growth proliferation and hematopoiesis of progenitor cells play a role in relation to immune response and inflammatory dysfunction. We investigated whether cytokines play a role in pathogenesis of BD., Methods: We employed the quantitative sandwich enzyme immunoassay technique, in which antibody is already coated on the microtiter plate standard and samples are pipetted into the wells. Antigen present is bound by immobilized antibody. After incubation and washing steps, conjugate, which is enzyme linked polyclonal antibody specific for the antigen is added to the wells. Following a wash to remove any unbound antibody enzyme reagent, a substrate solution is added to the wells, and color develops in proportion to the antigen bound in the initial steps, which can be read in terms of optical density present in the standards and in the samples., Results: Of a total of 53 samples with BD, 33 (64%) had detectable levels of interleukin 8 (IL-8). Levels of IL-6, tumor necrosis factor alpha and interferon-gamma were not significantly elevated in patients with BD., Conclusion: We found that IL-8 levels are higher in patients with active BD, and since IL-8 has a potent effect on the neutrophil, this cytokine most likely participates in the inflammatory response of this disease.

Three Saudi children (two female, one male) are described who presented with familial arthropathy associated with congenital camptodactyly. This rare but recognized clinical entity has a variable clinical presentation and may be associated with pericarditis and coxa vara. Camptodactyly was observed in the neonatal period in all patients, while joint swelling was observed between the third and 11th month. Pericarditis was suspected in the referral hospital in one patient but was not subsequently confirmed at our institution, raising the possibility that pericarditis may be reversible. Radiological examination of the hips showed coxa vara with short femoral neck in all patients. Synovial biopsy in the three patients revealed proliferating synovial epithelium with moderate fibrocollagenous densities and multinucleated giant cells, occasional lymphocytes or neutrophils but no plasma cells were identified. This is the first series of this familial arthropathy with a triad of camptodactyly, arthropathy and coxa vara (CAC syndrome) in Saudi Arabia which is to be considered in patients where more than one family member has juvenile arthritis.

Objective: To study the presentation of Behçet's disease (BD) in the Saudi population and to determine any differences in clinical manifestation and prognosis between men and women., Methods: One hundred nineteen patients with BD attending the King Faisal Specialist Hospital and Research Centre (KFSH & RC) and the King Khalid University Hospital (KKUH) between 1979 and 1992 were studied., Results: The male to female ratio was 3.4:1. The mean age was 29.3; oral ulcer was present in all the patients (100%), genital ulcer 87%, ocular involvement 65%, skin manifestations 57%, and arthritis 37%. Central nervous system involvement was present in 52 patients (44%) of which 12 had benign intracranial hypertension (BICH), pleuropulmonary manifestation 16%, deep venous thrombosis 25%, arterial thrombosis and aneurysm 18%, gastrointestinal manifestations 4%, and epididymitis 4%. Significant proteinuria was present in 9 patients 7.5%, of whom 3 had renal biopsy. The pathergy test was positive in 15 of 85 (17.5%) patients. HLA-typing was performed for 85 patients and HLA B5(51) was positive in 61 (72%) patients compared with 26% general population., Conclusion: Using the Fisher exact test, there was no significant difference in clinical manifestation or prognosis comparing men to women.

A retrospective study of 22 adult patients with dermatomyositis (DM) or polymyositis (PM) was performed. Male to female ratio was 1:2.7. Mean age of onset was 37.3 +/- (16.3) and symptoms were present for a mean of 11.2 +/- 14.6 months before diagnosis. Primary polymyositis was diagnosed in 11 (50%), primary dermatomyositis in three (13.6%). PM/DM was associated with connective tissue disease in three (13.6%) and malignancy in five patients (22.7%). Muscle disease followed the diagnosis of malignancy by a mean of 12.2 months (one to 36 months). All were female. Diffuse erythema was observed in all three patients with DM and malignancy. Arthritis was seen more frequency in our patients (55%). Sixty-eight percent of patients showed substantial improvement of muscle disease with steroids alone or in combination with other immunosuppressive agents, 18% did not improve or their disease progressed in spite of the treatment. Three patients died (14%), two from respiratory failure and one from underlying malignancy.

T cells and T cell subsets were studied in the peripheral blood of 18 patients with Behcet disease (8 active and 10 inactive) and 20 healthy controls. When the active disease group was compared with the inactive disease group and the control group, there was a significant increase (85.7% versus 71.3% and 69%) in the mean percentage of T cells for the active disease group. The mean percentage of CD4 cells for the active disease group (36%) was also significantly decreased from the mean value of the inactive disease group (36%) was also significantly decreased from the mean value of the inactive disease group (41%) and the controls (40%). There was a concomintant significant increase of CD8 cells of the group with active disease (43%) over the mean value for the group of inactive disease (32%) and controls (33%). These results indicated that there were alterations of T cells and T cell subsets in Behcet disease. In contrast to other studies, we found that the T cell number increased with disease activity in our patients; but the significance of single measurement of T cell number increased with disease activity in our patients; but the significance of single measurement of T cell subsets in a course of chronic disease must be taken into consideration.