Morbilidad y mortalidad durante el primer año de vida en pacientes con síndrome de Down / Down' syndrome patient morbidity and mortality during the first year of life

Objective: Down' Syndrome (DS) is the most common chromosomal abnormality. It carries an increased risk of concurrent congenital malformations as well as increased risk of mortality when compared to the general population. Objective: To determine the characteristics of morbidity and mortality in patients with DS during the first year of life. Patients and Methods: A prospective study of a cohort of children born with DS was performed. All children born in 2006 in two Chilean hospitals who were given a clinical diagnosis of DS were included. Infant mortality, morbidity and nutritional diagnosis were determined and recorded every two months. Results: 33 patients were included, 78.8 percent were full term newborns. Average age of the mother at childbirth was 33.2 +/- 7.8 years. Among the 33 patients, 64.5 percent had congenital heart disease, the most common cause being atrio-ventricular defects (25 percent), 35 percent of the patients with CHD required cardiac surgery. Gastrointestinal disorders were diagnosed among 35 percent of these children, atresia or intestinal stenosis being the most frequent diagnosis. 25.8 percent of the population suffered from hypothyroidism. Follow-up showed that after two months, 54.8 percent of these children were malnourished, however at one year old, 22.5 percent were overweight. By the first year, children had shown 5.38 +/- 1.83 episodes of Acute Respiratory Tract Infections per patient per year, and 1.22 +/- 1.14 non neonatal hospitalizations per child/year. Half of these hospitalizations were due to lower respiratory tract infection. Two patients died during the study due to infectious disorders, resulting on a survival rate of 93.6 percent at 12 months. Conclusions: This information should assist physicians in improving patient follow-up. The study should also make evident the need to create national standards to supervise the care of patients with DS.

Objetivos: El Síndrome de Down (SD) corresponde a la anomalía cromosómica más frecuente, con mayor riesgo de malformaciones asociadas y mortalidad que la población general. Nuestro objetivo fue caracterizar la morbimortalidad durante el primer año de vida en pacientes con SD. Material y Método: Estudio de cohorte prospectivo en niños con SD. Se incluyeron todos los niños nacidos durante el año 2006 con diagnóstico clínico de SD en dos hospitales chilenos. Se realizó registro de morbimortalidad, hospitalizaciones y diagnóstico nutricional cada 2 meses hasta los 12 meses de vida. Resultados: Se incluyeron 33 pacientes. El 78,8 por ciento fueron recién nacidos de término. La edad materna promedio fue de 33,2 +/- 7,8 años. El 64,5 por ciento presentó cardiopatía congénita, siendo más frecuentes los defectos aurículo-ventriculares (25 por ciento). El 35 por ciento requirió cardiocirugía. Las patologías digestivas asociadas se presentaron en el 35 por ciento. El 25,8 por ciento presentó hipotiroidismo. A los 2 meses el 54,8 por ciento tenía desnutrición. El 22,5 por ciento tenía obesidad/sobrepeso a los 12 meses. Hubo un promedio de 5,38 +/- 1,83 infecciones respiratorias agudas (IRA) por paciente/año y 1,22 +/- 1,14 hospitalizaciones no neonatales por niño/año. El 50 por ciento de las hospitalizaciones fueron por IRA baja. Dos pacientes fallecieron, ambos por causa infecciosa, con una sobrevida de 93,6 por ciento a 12 meses. Conclusiones: El conocimiento de esta información nos permitirá mejorar el seguimiento actual de este grupo de niños, además de hacer evidente la necesidad de crear un programa nacional de evaluación y supervisión estandarizado de salud para niños con SD.

Síndrome de Marfán / Marfan Syndrome

Marfan Syndrome is an autosomic dominant genetic disorder of the elastic fibers of connective tissue. Although neonatal and infant forms of the disease exist, the classic Marfan Syndrome is the most frequent form of presentation in childhood and adolescence, whith a hereditary background in 70 to 85 percent of cases. Due to the natural evolution of the disease, there is a progressive involvement of different organs or systems such as skeletal, cardiovascular, dura, ocular, skin-integument and lungs. However, the suspicion must arise on skeletal clinical aspects which are first evident signs. The cardiovascular involvement appears later but is the major life threatening complication. When suspecting Marfan phenotype, it is mandatory to apply Ghent criteria based on family history and clinical findings to establish the diagnosis. If diagnosis is confirmed, the severity of organ involvement must be assessed, to take preventive and/or therapeutic measures, including the search of new cases among relatives. When patients do not fulfill the diagnostic criteria, they must have a yearly evaluation considering the natural progressive evolution of the disease. The aim of this review is to spread and unify criteria on this disease whose diagnosis is eminently clinical, that requires early integral and updated management by a multidisciplinary group, to obtain the best quality of life and survival.