Helen Kornreich

Reflex neurovascular dystrophy in childhood

Reflex neurovascular dystrophy has rarely been recognized in children. During the past eight years we have observed 24 instances of RND in 23 children. Lower extremity involvement was manifested in 20 of them and upper extremity in four. The major complaint was pain; swelling and vasomotor instability were prominent, and exquisite tenderness was characteristic. Chronic trophic changes were not observed. Antecedent illness or trauma could be related to the RND in less than half of the children, but personality factors appeared contributory to the development of RND in most children. Physical therapy was the principal form of treatment; therapy with a corticosteroid or by sympathetic blockade was not employed. Reduction in the evidences of disease, including improvement in function, were present in all children at the termination of therapy; improvement was maintained in all but one child after a mean period of 2.4 years. The excellent response to conservative therapy suggests that RND may be a more benign condition in children than in adults.

Mixed connective tissue disease in childhood: A clinical and serologic survey†

Mixed connective tissue disease is a syndrome with overlapping clinical features of SLE, scleroderma, and polymyositis. Only one other child with MCTD has been described in detail. In this study 14 children with MCTD are described. Each had overlapping clinical findings that evolved over an extended period of observation, and all 14 had high serum titers of speckled ANA and antibodies to RNP. A serologic survey of 127 children with various rheumatic diseases confirmed the specificity of high titer of speckled ANA and antibodies to RNP for MCTD in children. Significant cardiac and renal involvement, and thrombocytopenia, may be more common in affected children than in adults with MCTD, may lead to longer therapy with higher doses of a corticosteroid, and may contribute to a more serious prognosis than in adults.

Course of treated juvenile dermatomyositis

Sixty-six patients with possible juvenile dermatomyositis (JDMS) were observed at the Childrens Hospital of Los Angeles from 1960 to 1982. In patients initially given high doses of corticosteroids followed by low-dose therapy, three different clinical courses had previously been observed: monocyclic, polycyclic, and chronic continuous. We reviewed the records of 32 patients who met study criteria. The course of JDMS was monocyclic in eight children, chronic polycyclic in 10, and chronic continuous in 14. Of these children, 25 are well and not receiving medication; one has mild JDMS, without corticosteroid therapy; four have active JDMS despite corticosteroid therapy (one is severely handicapped); and two have died. Our results support the improved prognosis of JDMS after corticosteroid therapy, but also the great clinical variability of the disease. Understanding of this variability, as reflected in the three disease courses, facilitates physician choice of the optimal treatment with the least drug toxicity for the individual patient, continuing efforts to clarify the disease pathogenesis, and research efforts to improve current treatment programs for the patient with severe JDMS.

Original articleMixed connective tissue disease in childhood: A clinical and serologic survey†

Mixed connective tissue disease is a syndrome with overlapping clinical features of SLE, scleroderma, and polymyositis. Only one other child with MCTD has been described in detail. In this study 14 children with MCTD are described. Each had overlapping clinical findings that evolved over an extended period of observation, and all 14 had high serum titers of speckled ANA and antibodies to RNP. A serologic survey of 127 children with various rheumatic diseases confirmed the specificity of high titer of speckled ANA and antibodies to RNP for MCTD in children. Significant cardiac and renal involvement, and thrombocytopenia, may be more common in affected children than in adults with MCTD, may lead to longer therapy with higher doses of a corticosteroid, and may contribute to a more serious prognosis than in adults.

Antinuclear factors in childhood rheumatic diseases

A study of antinuclear factors in childhood disease revealed positive tests in 15 of 16children with systemic lupus erythematosus, 19 of 85 with rheumatoid arthritis, and 8 of 34 with ulcerative colitis. The occurrence of antinuclear factors is probably not significantly influenced by the age of the patient, although the data sugget that the young rheumatoid child may be more likely to form these than are older rheumatoid children or adolescents. Antinuclear factors were found more commonly in females than in males, suggesting a definite influence of sex on the capacity to form them.

Acute hepatic dysfunction in juvenile rheumatoid arthritis

Five girls and 2 boys developed acute changes in hepatic function during the courseof juvenile rheumatoid arthritis. Hepatic dysfunction was due to infectious hepatitis in 2, infectious mononucleosis in 1, and of unproved etiology in 4. In these 4, the question was raised as to whether hepatic disease occurred as a systemic manifestation of juvenile rheumatoid arthritis or was the result of drug hepatotoxicity or intercurrent infection. The most striking clinical effect of the acute hepatic dysfunction, regardless of etiology, was the dramatic improvement in arthritic symptoms. Other signs of active inflammation (fever, sedimentation rate) likewise improved. Two patients had a rise in rheumatoid factor titer. Studies of liver function in 30 other rheumatoid patients revealed mild alterations in 4 patients. The sudden improvement in rheumatoid disease activity associated with acute hepatic dysfunction in 7 children suggests that maintenance of the rheumatoid state is at least in part dependent upon the maintenance of some minimal level of hepatic integrity.

Phenylketonuria and scleroderma.

A diagnosis of scleroderma and phenylketonuria was made in an 18-month-old girl. This is the third recorded incidence of the association of these two disorders. Following institution of a low phenylalanine diet, there was softening of the severe sclerodermatous lesions on the trunk and lower extremities, although new lesions have slowly developed on the upper extremities. There has been no clinical or laboratory evidence of systemic scleroderma. Urinary chromatographic studies on 9 other children with scleroderma failed to reveal any distinctive abnormalities in the excretion of amino acids, phenols, indoles, or imidazoles.

The role of antibodies directed against doublestranded DNA in the manifestations of systemic lupus erythematosus in childhood

The specificity of antibodies directed against dsDNA for SLE in a childhood population was tested by analyzing sera from 62 children with lupus and 283 children with other known or suspected autoimmune diseases. The role of these antibodies in the manifestations of SLE was then examined by correlating dsDNA Ab titer with clinical manifestations in 311 sera from 20 children followed for a mean of 51 months. Antibodies to dsDNA were found to be highly specific for SLE. The presence of antibodies in titers of 1:80 or greater correlated with the presence of active disease, arthritis, and rash, but not with azotemia, proteinuria, or increasing proteinuria; this indicated that their role in the induction of lupus nephritis was different from that in the induction of rash and arthritis. This may be due to a requirement for small immune complex formation during times of antigen excess in the initiation of lupus nephritis.

Some Immunologic Considerations in Focal Scleroderma and Progressive Systemic Sclerosis in Children

Extract: Immunoglobulins (Ig) G, M, and A were significantly elevated in children with focal scleroderma (FS) and progressive systemic scleroderma (PSS), and were significantly higher in those patients who had rheumatoid factor or antinuclear antibodies than in those who did not. Antinuclear antibodies were found in 13 of 23 children with FS and in 5 of 6 children with PSS. Significantly increased binding of antibody to native DNA was detected by radioimmunoassay in 5 of 16 children with FS and in 0 of 6 children with PSS. Persistence of DNA antibody for 6–12 months was demonstrated in two patients with FS and the DNA binding activity correlated with the serum levels of IgG and IgM. The persistence of the high levels of immunoglobulins and autoantibodies are strong evidence of an antigen involved in scleroderma pathogenesis. A case is presented in which antibodies to a specific exogenous antigen (Epstein-Barr virus antigen) were associated with advancing focal scleroderma lesions.Speculation: The fibrosis of scleroderma is probably initiated by an inflammatory process and is accompanied by significantly increased immune activity which indicates an antigen intimately associated with the disease process. The primary antigen is probably exogenous in origin but may give rise to sclerodermatous changes through secondary effects on local tissue antigens.

The rheumatic diseases in adolescence.

While most of the rheumatic diseases which occur in adults also occur in children, significant differences are seen in the clinical and laboratory characteristics. A study of 86 adolescents with connective tissue disorders requiring admission to hospital over a 5 year period provides the basis for this report of the clinical and laboratory characteristics of systemic lupus erythematosus, rheumatoid arthritis, scleroderma, and dermatomyositis in the adolescent patient.