Biomedical subjects
Publications and source records attributed to C Ozkinay.
Severely involved female child with Multiple Pterygium Syndrome (Escobar) is described. She had the typical findings of the syndrome such as multiple pterygiums, characteristic facial appearance, genital anomalies. She also had bilateral optic atrophy. This is the first case described so far with optic atrophy in Multiple Pterygium Syndrome (Escobar).
Progressive pseudorheumatoid arthropathy of childhood (PPAC) described by Spranger et al is a rare autosomal recessive disorder. An 11 year-old girl was diagnosed as having PPAC at Ege University, Faculty of Medicine, Department of Paediatrics. Her complaints of painful joints, difficulty in walking and joint contractures began at the age of 3 years and she was treated for juvenile rheumatoid arthritis for 8 years. Her symptoms did not respond to nonsteroid anti-inflammatory treatment. During her last hospitalisation period, she was reinvestigated. Radiological examination showed spondyloepiphyseal dysplasia, severe acetabular irregularity and osteoporosis. All the laboratory test results for rheumatoid arthritis were negative. The clinical and radiological findings of the patient are illustrated.
Varicella is not always a benign disease it may cause serious complications. We report a two-year-old boy with disseminated intravascular coagulation in association with varicella. The patient had the lupus anticoagulant, the antiphospholipid antibody, acquired free protein S deficiency, and increased concentrations of the prothrombin F 1+2 fragment. Intravenous immunoglobulin was administered due to its potential antibody-blocking activity, and the patient responded well. We recommend that children with varicella and disseminated intravascular coagulation should be examined for the lupus anticoagulant, the free protein S antigen, the prothrombin fragment F 1+2 and the other coagulation parameters. Intravenous immunoglobulin administration could be useful in such conditions because of its antibody-blocking activity.
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An association between anticonvulsant drugs taken during pregnancy and congenital abnormalities was first identified by Meadow et al. in 1968. Manson and Frederic clarified teratogenic effects of hydantoin in their epidemiological studies in 1973. Varied malformations due to hydantoin intake during pregnancy include digit and nail hypoplasia, growth retardation, typical facial appearance, rib anomalies, abnormal palmar creases, hirsutism, and low hairlines. Ambiguous genitalia is rarely associated with this syndrome. We present two siblings, aged three years and three months, with fetal hydantoin syndrome (FHS). Both were born to an epileptic mother who was given diphenylhydantoin (DPH) and phenobarbital throughout her pregnancies. The patients showed many characteristics of FHS, and ambiguous genitalia. Clinical and laboratory examinations revealed that both have normal female internal genital organs and female karyotypes.