ABSTRACT
Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities. We describe here an 18 year old boy with Cockayne syndrome who had, in addition to the typical features of the disorder, fasting hyperinsulinemia and growth hormone deficiency.
Subject(s)
Adolescent , Humans , Male , C-Peptide/blood , Cockayne Syndrome/complications , Growth Disorders/complications , Growth Hormone/deficiency , Hyperinsulinism/complications , Insulin/blood , Optic Atrophy/pathology , Retinal Degeneration/pathologyABSTRACT
Kawasaki disease is an acute vasculitis of infancy and early childhood characterized by high fever, rash, mucositis, lymphadenopathy and coronary artery damage. The failure to indentify a causative organism using convetional culture and serological techniques, and the lack of response to antibiotics indicate that the disorder is probably not due to any known bacterial or viral pathogens. During the acute phase of the disease, the alterations of T and B cell functions, changes of cytokine and immunoglobulin levels have been reported. This study was performed to investigate the changes of immunoglobulins levels in patients with Kawasaki disease. IgG, IgA, IgM and IgG subclasses were measured using immunoprecipitation and EIA in the sera of patients with Kawasaki disease. The results were as follows: 1) Acute phase reactants such as CRP and ESR were significantly increased in Kawasaki patients compared to those in control patients(p<0.01). 2) Serum IgG levels in Kawasaki disease were markedly increased than those in control patients, while serum IgA and IgM levels showed no significant changes (P: No Significance). 3) IgG1 and IgG4 were predominantly increased increased in the sera of Kawasaki patients, while IgG2 and IgG3 were not significantly increased (P: No Significance). With these results, unidentified infectious organism with abnormal immune response could be suggested as an etiologic factor of Kawasaki disease.
Subject(s)
Child , Humans , Acute-Phase Proteins , Anti-Bacterial Agents , Coronary Vessels , Exanthema , Fever , Immunoglobulin A , Immunoglobulin G , Immunoglobulin M , Immunoglobulins , Immunoprecipitation , Lymphatic Diseases , Mucocutaneous Lymph Node Syndrome , Mucositis , VasculitisABSTRACT
No abstract available.