RESUMEN
Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10 months of age have been reported. Here, we describe an 8-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. He had no major health problems over the course of 8 years of follow-up, except for mild mental/motor retardation, ichthyosis, facial dysmorphic features and limb anomalies. Based on these features, we suggest that because Neu-Laxova syndrome represents a heterogeneous phenotype, our case may be a milder variant of this syndrome or a new genetic entity.
Asunto(s)
Sordera/congénito , Displasia Fibrosa Monostótica/patología , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Deformidades Congénitas de las Extremidades Inferiores/patología , Hueso Esfenoides/diagnóstico por imagen , Adolescente , Análisis Citogenético , Sordera/patología , Displasia Fibrosa Monostótica/genética , Humanos , Hibridación Fluorescente in Situ , Masculino , Tomografía Computarizada por Rayos XRESUMEN
Rheumatic fever is still one of the major public health problems in developing countries. Recurrences have been reported during continuous regular prophylaxis. Here, we describe a 13-year-old girl who had four apparent recurrences of carditis while on a regimen of intramuscular benzathine penicillin G (BPG) every three weeks. The interesting and special features of this case were the presence of frequent recurrences of carditis with no evidence of arthritis despite regular BPG injections every three weeks, the requirement of long-term corticosteroid therapy due to these recurrences, and the shortness of time periods between attacks after withdrawal of steroid therapy. In this case, the administration of supraphysiologic doses of glucocorticoids caused iatrogenic Cushing syndrome with decreased bone mineral density and bilateral avascular tibial necrosis mimicking the symptoms of arthritis. Thus, this is a rare case. In similar cases with recurrences of either arthritis or carditis, instead of long-term corticosteroid therapy, we suggest a regimen of BPG prophylaxis every two weeks rather than every three weeks or monthly BPG injections because of the superiority of the every two weeks schedule in the adequate control of rheumatic fever recurrences, as shown in some previous studies.
Asunto(s)
Miocarditis/etiología , Fiebre Reumática/complicaciones , Adolescente , Femenino , Humanos , Penicilina G Benzatina/administración & dosificación , Recurrencia , Fiebre Reumática/tratamiento farmacológico , Cardiopatía Reumática/etiologíaRESUMEN
An 11-year-old girl who presented with disseminated tuberculosis associated with secondary hemophagocytosis received a diagnosis of interleukin-12 receptor beta 1 chain deficiency. This diagnosis of immunodeficiency should, therefore, be considered for children with disseminated tuberculosis, even in the absence of any personal or familial history of prior infection by weakly pathogenic Salmonella and Mycobacterium species.