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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 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.

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.

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.

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.

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.

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.

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.

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.

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.