Biomedical subjects
Publications and source records attributed to Y Uziel.
We describe a 6-year-old girl with acute torticollis as the initial manifestation of systemic onset juvenile rheumatoid arthritis (JRA). She presented with isolated torticollis for 2 weeks, followed by daily intermittent fever and polyarthritis. We discuss the pathogenesis of cervical spine involvement in JRA and the clues to early diagnosis.
Henoch-Schönlein purpura is the most common vasculitis in children. It is frequently preceded by either viral or bacterial infections of the upper respiratory tract. We present a 15-year-old female who developed recurrent episodes of Henoch-Schönlein purpura. Eventual investigation of the patient's abdominal pain, initially attributed to vasculitis involving the gastrointestinal tract, revealed a left tubo-ovarian abscess caused by Morganella morganii. Salpingo-oophorectomy resulted in complete remission of the disease process.
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OBJECTIVES: To determine the health of mothers of offspring with complete congenital heart block (CHB) both at the time of delivery of the affected child and in the long-term, and the percentage of mothers and children with CHB who had anti-SSA/Ro and/or SSB/La antibodies. PATIENTS AND METHODS: Sixty-four mothers of 64 children with CHB (seen between 1964 and 1993) were identified through the Cardiology database of The Hospital for Sick Children, Toronto, Canada. Medical information from these of children with CHB was evaluated. Data were obtained from the mothers by mailed questionnaire, telephone interview, and/or from the attending physicians. The presence of anti-Ro antibodies and anti-La antibodies were evaluated by ELISA assay. RESULTS: The mean age at the time of delivery of the first child with CHB was 28 +/- 6 years. At the time of delivery 42 (66%) mothers were healthy, 2 (3%) had systemic lupus erythematosus (SLE), 2 (3%) had linear scleroderma, 2 (3%) had rheumatoid arthritis; 3 (5%) had a history of rheumatic fever (but were otherwise well), 1 (2%) had Sjogren's syndrome (SS), and 12 (19%) had an undifferentiated autoimmune syndrome (UAS) (arthralgia, myalgia, photosensitivity, skin vasculitis, Raynaud's phenomenon). The mean time to follow-up from deliver to study was 121 +/- 88 months. The mean maternal age at study was 38 +/- 9 years. Three of 12 mothers who initially had a UAS progressed to SLE (average follow-up time of 80 months, median 96), and 2 developed SS (with average follow-up time 140 months, median 132) and 1 went into remission. The mean follow-up time for the other mothers who did not develop an autoimmune disease was 150 +/- 102 months. Thirty-six of the 42 initially healthy mothers remained well. One mother developed SLE; 1 developed hyperthyroidism; 1 developed anky-losing spondylitis; and 3 developed an UAS. The mean follow-up time of the 36 mothers who remained healthy was similar (123 +/- 97 months) to the 6 initial healthy mothers who developed an autoimmune disease (121 +/- 36 months). Anti-Ro and/or anti-La antibodies were positive in 32 of 53 (60%) mothers tested. Fourteen of the 53 mothers were symptomatic at the time of delivery and 39 were asymptomatic. Anti-Ro and/or anti-La antibodies were positive in 12 of 13 mothers tested at the time of delivery. CONCLUSIONS: The long-term maternal outcome in our cohort was very good as most of the initially healthy mothers remained well at follow-up. Twenty-five percent of the mothers with a UAS and only 2% of the initially healthy mothers developed SLE. The development of an autoimmune disease in an asymptomatic mother identified by the birth of a child with CHB was less common in our study than in previous studies. However, close follow-up of mothers with UAS is warranted.
BACKGROUND: Brucellosis has become a major medical problem in Israel particularly in the Muslim Arab population. METHODS: Eighty-eight children with acute brucellosis are described. Sixty-seven were studied retrospectively during 1987 through 1988, and 21 children were studied prospectively during 1989 through 1992. Epidemiologic, clinical and laboratory features were evaluated, and the outcome of 4 antimicrobial regimens are compared. RESULTS: Although the clinical manifestation varied, the classical triad of fever (91%), arthralgia or arthritis (83%) and hepato- and/or splenomegaly (63%) characterized most patients. Sixty-one percent of the children had elevated liver enzymes. Brucella melitensis was isolated from 61% of blood cultures. The relapse rate in patients who were treated with monotherapy (doxycycline) was 43% compared with 14% with regimens of combined therapy with rifampin and doxycycline, streptomycin and doxycycline or rifampin and trimethoprim-sulfamethoxazole (P < 0.049). Eleven children (33%) who were treated for 3 weeks had relapse compared with 1 patient (3.5%) treated for 4 weeks or longer. The total relapse or reinfection rate was 20%. All patients with relapse recovered after a second course of antibiotic therapy. During the 2 years of follow-up one child progressed to chronic osteomyelitis. CONCLUSIONS: Combination therapy and extending treatment for 4 weeks or longer gave significantly better results than monotherapy or shorter courses of therapy and resulted in fewer relapses.
OBJECTIVE: To report the short and longterm effect of intravenous immunoglobulin (IVIG) in patients with systemic onset juvenile rheumatoid arthritis (SOJRA). METHODS: A retrospective chart review of 27 patients with SOJRA treated with IVIG and followed for 37.1 +/- 18.2 months was undertaken. Indications for treatment were fever, arthritis, or steroid dependency. RESULTS: We treated 27 patients with SOJRA with IVIG monthly for 3-54 months. Six months after IVIG therapy, 20 patients had a least a 50% decrease in at least one of the following: the number of days of fever; prednisone dose; or the number of active joints. Five patients failed to respond to IVIG, and 2 dropped out after 3 and 4 months. At last followup visit (mean 37.6 +/- 18 months), 11 of the initial 20 responder group patients were in remission, while 3 had significantly improved but still had active arthritis, and 6 were now unresponsive. Of the initial 5 patients in the nonresponder group, 4 had nonresponsive arthritis and 1 had improved at last followup. Three patients in the responder group subsequently developed other diseases. CONCLUSION: The main benefit of IVIG therapy to most of our patients was a significant improvement in the systemic features, with resolution of fever and a significant reduction in the steroid dose. The efficacy of IVIG in altering the course of arthritis was less predictable. We suggest that IVIG has a role in the management of SOJRA, but it should be limited to patients with severe SOJRA in whom prolonged unresponsiveness to standard therapy is present.
We describe three cases of cerebral vein thrombosis (CVT) in girls with systemic lupus erythematosus. Severe, persistent, unremitting headache was a common manifestation. In the first patient, although the clinical features were suggestive of CVT, the diagnosis was delayed and she had a significant cerebral infarct. In the other two patients the diagnosis was made earlier and led to more rapid treatment; the institution of early therapy may have prevented further sequelae. The CVT was diagnosed in all patients with a combination of computed tomography and magnetic resonance imaging studies without the need for angiography. All patients were treated for their underlying systemic lupus erythematosus and with anticoagulation. All are receiving long-term low doses of warfarin and have not had any recurrences.
Childhood scleroderma may present in a variety of clinical forms that differ in clinical presentation, extracutaneous features, clinical course, and outcome. All include hardening of the skin as a major feature. This article reviews these various entities, focusing on primarily the clinical features. In addition, current concepts regarding pathogenesis and treatment are discussed.
Visceral larva migrans (VLM) is endemic in Israel; therefore, a positive serology is not unusual in our general population. The clinical manifestations of the disease may mimic other clinical conditions. Sometimes life-threatening disorders have to be considered in the differential diagnosis. This diagnostic dilemma can be solved occasionally only by histological examination. We report two patients, one with a lymphoma-like presentation and the other with an intraocular tumoral mass suggesting retinoblastoma, and discuss the diagnostic difficulties.
Systemic lupus erythematosus (SLE) is a rare disease in children that might possibly be modulated by genetic and environmental factors. In order to delineate the characteristic features of SLE among Israeli children, we reviewed the medical records of 38 cases from 8 pediatric rheumatology clinics. All fulfilled the 1982 American Rheumatism Association revised criteria for SLE. The illness became apparent at the age of 16 years or younger and the mean age of onset was 11.9 +/- 2.4 y (range 7-16) and the mean duration of follow-up 4.0 +/- 4.8 y (range 0.5-15). The female to male ratio was 2.8:1; 28 were Jewish and 10 Arabs. Systemic complaints, such as fever, malaise and weight loss, were noted in 90%, malar rash in 65%, and other skin manifestations in 40%. Arthritis was noted in 57% and additional musculoskeletal complaints in 70%; 90% had hematological abnormalities. Major organ system involvement included: renal disease in 50% pulmonary involvement 28% and CNS involvement 28%. 2 patients are currently on renal dialysis and 1 died from hypertensive crisis. We conclude that the features of SLE in children in Israel are not influenced by ethnic or geographic factors, and are similar to those reported worldwide.
OBJECTIVE: To determine the prevalence and antigenic specificities of antinuclear antibodies (ANA) in children with localized scleroderma. METHODS: The ANA profiles of 27 children with localized scleroderma were determined. The study group comprised 21 children with linear scleroderma, 5 with morphea, and 1 with combined linear scleroderma and morphea. Sera were evaluated for the presence of ANA by indirect immunofluorescence and for reactivity with specific nuclear antigens by ELISA and immunoblotting. RESULTS: Seventeen patients (63%) had positive tests for ANA. Of these sera 10 displayed a finely speckled pattern, 5 a combined nucleolar and finely speckled nuclear pattern, and 2 a nucleolar pattern only. Fourteen of 21 (67%) with linear scleroderma were ANA positive. Three of 5 patients with morphea (60%) had ANA. The 1 patient with both linear scleroderma and morphea was ANA negative. Fifteen sera (56%) contained antibodies to denatured DNA (dDNA). Eleven sera (41%) had antibodies to one or more high mobility group (HMG) proteins, 4 (15%) reacted with one or more histones and 1 serum (4%) reacted with topoisomerase I (Sc1-70). CONCLUSION: ANA are present in most children with localized scleroderma and frequently have specificity for dDNA and HMG proteins. Children with localized scleroderma, like patients with systemic sclerosis (SSc), commonly have ANA and antibodies to dDNA. Unlike patients with SSc, however, childhood localized scleroderma is uncommonly associated with antibodies to certain specific nuclear and nucleolar constituents that typically occur in association with SSc.
OBJECTIVE: To determine whether circulating serum levels of soluble interleukin-2 receptor (sIL-2R) are elevated in patients with localized scleroderma, and if levels of sIL-2R can differentiate between active and inactive disease. METHODS: Seventeen patients with localized scleroderma were categorized by overall physician assessment into active, inactive, and indeterminate groups, according to disease activity. Serum sIL-2R levels were analyzed and correlated with disease activity. RESULTS: The mean sIL-2R level was significantly higher (P = 0.005) in those with active disease (1,675 +/- 823 units/ml) than in those with inactive disease (722 +/- 218 units/ml). CONCLUSION: Serum sIL-2R levels are elevated in patients with localized scleroderma. When present, elevated sIL-2R levels appear to be able to differentiate active from inactive disease. This fact also suggests cell-mediated immune activation in this condition. Further serial studies are required to assess the value and sensitivity of sIL-2R levels in measuring changes in disease activity.
Localized scleroderma is distinct from the diffuse form of scleroderma and does not show Raynaud's phenomenon and visceral involvement. The imaging features in 23 patients ranging from 2 to 17 years of age (mean 11.1 years) were reviewed. Leg length discrepancy and muscle atrophy were the most common findings (five patients), with two patients also showing modelling deformity of the fibula. One patient with lower extremity involvement showed abnormal bone marrow signals on MR. Disabling joint contracture requiring orthopedic intervention was noted in one patient. In two patients with "en coup de sabre" facial deformity, CT and MR scans revealed intracranial calcifications and white matter abnormality in the ipsilateral frontal lobes, with one also showing migrational abnormality. In a third patient, CT revealed white matter abnormality in the ipsilateral parietal lobe. In one patient with progressive facial hemiatrophy, CT and MR scans showed the underlying hypoplastic left maxillary antrum and cheek. Imaging studies of areas of clinical concern revealed positive findings in half our patients.
Localized scleroderma (LS), a rare disease that occurs primarily in the pediatric age group, differs from systemic sclerosis (SSc) in that it is usually limited to the skin and subcutaneous tissue and is only rarely associated with systemic manifestations. The authors' experience with pediatric LS seen in 30 patients at a tertiary care center was reviewed: 26 had linear scleroderma, 19 on an extremity and 7 on the face; 3 had morphea; and 1 had generalized morphea. Antinuclear antibodies were present in 76% and rheumatoid factor in 39%. Five of 19 patients with linear scleroderma that involved an extremity had growth failure in that limb, and 1 required surgery. Sclerodermatous involvement over a joint resulted in limited range of movement in 6 patients, and 1 required surgery. One of the 30 patients developed SSc and polymyositis. There was difficulty in evaluating disease activity and hence in evaluating treatment. This experience with a large patient population suggests that LS, although usually a self-limiting disease, can result in significant morbidity.
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The present report describes a benign disorder of neonates or young infants presenting with generalized hypertonicity accompanied by brisk muscle stretch reflexes, intermittent clonus, and exaggerated startle response. This condition is termed hyperexplexia, and may be either familial or sporadic. Two affected families are reported: Two sisters and their mother are involved in the first family; in the second family, where the parents are asymptomatic first degree cousins, all three siblings suffer from hyperexplexia of various severity. Nose tapping in infants of affected families induced a uniform reaction of facial twitching accompanied by head extension, and a generalized flexor spasm, all of which may be a hallmark of hyperexplexia. Severely hypertonic infants were treated with small doses of benzodiazepines and improved markedly, all becoming asymptomatic by two years of age. Unnecessary investigation and treatment may be avoided by sufficient awareness of possible hyperexplexia.
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