RESUMO
Chromosomal anomalies occur in 0.4% of live births. Ring chromosomes have been found for all human chromosomes and when it is replacing a normal chromosome, it results as a partial monosomy. The phenotype often overlaps that seen in comparable deletion syndromes of the same chromosomes. In the present report the authors describe the clinical manifestations of a girl with ring chromosome 18 (46XX,r18) including dysmorphic features, failure to thrive, global delay of development, hypothyroidism, atopic dermatitis, bilateral chronic otitis media, aortic regurgitation with patent foramen ovale and immunoglobulin A deficiency.
Assuntos
Pré-Escolar , Cromossomos Humanos Par 18/genética , Eczema , Insuficiência de Crescimento , Feminino , Humanos , Deficiência de IgA/genética , Otite Média , Fenótipo , Cromossomos em Anel , TailândiaRESUMO
Obscure fever is not an uncommon problem in Thailand. We studied 25 children with obscure fever admitted to Srinagarind (university) Hospital in Northeast Thailand. The etiology was identified in 52% of the cases: dengue (40%), leptospirosis (8%), and micrococcus septicemia (4%). Two cases with primary dengue infection developed dengue shock syndrome. The case with leptospirosis developed infection-associated, hemophagocytic syndrome. We found no cases of Japanese encephalitis, scrub typhus or murine typhus.