RESUMEN
We evaluated the echocardiographic features of 69 children diagnosed with Sydenham's chorea at the first attack of acute rheumatic fever. By echocardiography, carditis was detected in 71% of cases and silent carditis was shown in 28.9% of cases at initial presentation. Most patients had mild or moderate valvular regurgitation. Sixty-three cases were followed from 1-10 years. The improvement rate in valvulitis in cases with silent carditis (29.4%) was not different than in cases with clinical carditis (18.5%) (p > 0.05). Persistence of valvular pathologies occurred in 72.2% of cases with carditis in the long-term follow-up (> 2 years). Most patients (88.8%) complied with secondary prophylaxis, so relapse of carditis was exclusively prevented in our patients. Recurrence of chorea was identified in 20.6% of cases and was not associated with clinical or laboratory evidence for streptococcal reinfection. Patients with chorea usually had mild carditis, and carditis showed resolution. Relapse of carditis in our population was exclusively prevented with secondary prophylaxis. Recurrence of chorea was not rare, despite regular treatment with benzathine penicillin.
Asunto(s)
Corea/complicaciones , Miocarditis/microbiología , Fiebre Reumática/complicaciones , Adolescente , Niño , Corea/tratamiento farmacológico , Femenino , Estudios de Seguimiento , Humanos , Masculino , Miocarditis/tratamiento farmacológico , Estudios Retrospectivos , Fiebre Reumática/tratamiento farmacológico , Prevención Secundaria , Resultado del TratamientoRESUMEN
Mulibrey nanism is a rare autosomal-recessive disorder characterized by prenatal onset severe growth retardation and pericardial constriction associated with abnormalities of muscle, liver, brain and eye. More than 80% of previously reported patients are of Finnish origin in whom a founder mutation in the TRIM37 gene have been described. We report on a 7-year-old Turkish boy who presented with classical phenotypic features of mulibrey nanism. Mutation screening of the TRIM37 gene revealed that the proband had a homozygous two base pair deletion, c.1894_1895delGA, resulting in a frame-shift and a premature termination codon. Our proband is one of the rare examples of mulibrey nanism outside Finland and extends the mutation spectrum in this disorder.