Perfil de morbilidad otorrinolaringológica en niños con síndrome de Down / Ear, nose and throat disease profile in children with Down syndrome

Introducción: Los niños con síndrome de Down (SD) tienen mayor riesgo de desarrollar enfermedad otorrinolaringológica (ORL). Recomendaciones internacionales sugieren realizar tamizaje auditivo precoz y control periódico por especialista. Nuestro objetivo fue caracterizar la enfermedad ORL en niños con SD y proponer una recomendación adaptada a nuestra realidad. Pacientes y método: Estudio transversal, descriptivo, en niños de 6 meses a 15 años con SD. Los datos se obtuvieron por medio de entrevista a los padres y revisión de fichas clínicas. Resultados: Se analizaron 134 pacientes, con una edad promedio de 44,5 meses. El 78,8% de ellos presentaba enfermedad ORL, siendo la más frecuente la rinitis alérgica y otitis con efusión. El tamizaje auditivo estaba alterado en un 25% de ellos, el 50% de los mayores de 3 años con estudio de sueño tenían apnea obstructiva del sueño. Los niños de mayor edad tuvieron estadísticamente mayor frecuencia de enfermedad ORL. Conclusiones: Esta serie muestra una alta frecuencia de enfermedad ORL en niños con SD, lo que refuerza la necesidad de realizar tamizaje auditivo, sospechar e identificar las apneas obstructivas del sueño y derivación rutinaria al especialista para optimización de las condiciones auditivas que permitan el mejor desarrollo del niño con SD.

Introduction: The children with Down syndrome (DS) are at increased risk of ear-nose-throat (ENT) disorders. International recommendations suggest early hearing screening and periodic specialist evaluation. Our goal was to characterize ENT disorders in children with DS, and propose recommendations for the Chilean population. Patients and method: Cross-sectional, descriptive study, of children with DS, between 6 months and 15 years of age. The data was obtained by a health interview to the parents and review of medical records. Results: We analyzed 134 patients with an average age of 44.5 months. The 78.8% had ENT disorders, the most frequent ENT disorders was allergic rhinitis and otitis media with effusion. Hearing screening was abnormal in a quarter of the patients, 50% of children over 3 years of age had obstructive sleep apnea diagnosed by polysomnogram. Older children had a statistically higher frequency of ENT disorders. Conclusions: This series shows a high rate of ENT disorders in children with DS, which supports recommendations for hearing screening, high suspicion of obstructive sleep apnea and routine referral to an ENT specialist for prevention and aggressive therapy in order to reduce hearing loss and improve development of the child with DS.

[Ear, nose and throat disease profile in children with Down syndrome]. / Perfil de morbilidad otorrinolaringológica en niños con síndrome de Down.

INTRODUCTION: The children with Down syndrome (DS) are at increased risk of ear-nose-throat (ENT) disorders. International recommendations suggest early hearing screening and periodic specialist evaluation. Our goal was to characterize ENT disorders in children with DS, and propose recommendations for the Chilean population. PATIENTS AND METHOD: Cross-sectional, descriptive study, of children with DS, between 6 months and 15 years of age. The data was obtained by a health interview to the parents and review of medical records. RESULTS: We analyzed 134 patients with an average age of 44.5 months. The 78.8% had ENT disorders, the most frequent ENT disorders was allergic rhinitis and otitis media with effusion. Hearing screening was abnormal in a quarter of the patients, 50% of children over 3 years of age had obstructive sleep apnea diagnosed by polysomnogram. Older children had a statistically higher frequency of ENT disorders. CONCLUSIONS: This series shows a high rate of ENT disorders in children with DS, which supports recommendations for hearing screening, high suspicion of obstructive sleep apnea and routine referral to an ENT specialist for prevention and aggressive therapy in order to reduce hearing loss and improve development of the child with DS.

Nacer con tres cromosomas 21 en el siglo 21 / Born with trisomy 21 in 21st century

En este artículo se resume diversos aspectos asociados al nacimiento de un niño con Síndrome de Down en Chile. La frecuencia de estos nacimientos, el enfrentamiento a la noticia, los principales mitos y la realidad asociados a este síndrome son enfocados desde una perspectiva actual...

This article outlines various aspects related to a child born with Down Syndrome in Chile. The frequency of these births, how we respond to diagnosis, the myths and the true associated are updated...

[Recommendations for health care of people with Down syndrome from 0 to 18 years of age]. / Recomendaciones de cuidados en salud de personas con síndrome de Down: 0 a 18 años.

People born with Down syndrome have an increased risk of birth defects and are more vulnerable to certain illnesses. Health care for them should emphasize prevention, early diagnosis and early treatment of their most common health conditions. A healthy lifestyle promotes future physical and intellectual development. The purpose of this review is to update health care recommendations for individuals with Down syndrome from 0 to 18 years of age. The health professionals members involved in the care of these patients should be aware of these guidelines.

Recomendaciones de cuidados en salud de personas con síndrome de Down: 0 a 18 años / Recommendations for health care of people with Down syndrome from 0 to 18 years of age

People born with Down syndrome have an increased risk of birth defects and are more vulnerable to certain illnesses. Health care for them should emphasize prevention, early diagnosis and early treatment of their most common health conditions. A healthy lifestyle promotes future physical and intellectual development. The purpose of this review is to update health care recommendations for individuals with Down syndrome from 0 to 18 years ofage. The health professionals members involved in the care of these patients should be aware of these guidelines.

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.

Diabetes insípida en pediatría: serie clínica y revisión de la literatura / Diabetes insipidus in pediatrics

Introduction: Diabetes insipidus (DI) is a syndrome characterized by polyuria and polydipsia secondary to a decreased secretion or action of the antidiuretic hormone (ADH). An early diagnosis is essential. Diagnosis is made by measuring plasma and urinary osmolarity and their changes under water deprivation and after DDAVP administration. Objective: Lo describe the clinical, radiological characteristics as well as the initial treatment of eight children with DI, 3 of them nephrogenic DI (DIN) and 5 with central DI. Methods: A Retrospective, descriptive study in DI patients under control at the Catholic University of Chile and Sotero del Rio Hospital between 1998-2008 is presented. Clinical files were evaluated collecting clinical, epidemiologic, biochemical and image data. Serum (Sosm) and urinary osmolarity (Uosm) were registered. DI was diagnosed with a Sosm > 300 and Usm < 600 mOsm/L. Central DI was defined as the inability to reach a Uosm > 600 or a 50 percent-increase after DDAVP treatment. Otherwise DI was classified as DIN. Results: Eight patients (5 males) were studied. Chief complaints were polydipsia/polyuria (5/8), hyperthermia (2/8), and failure to grow (1/8). MRI showed endocraneal lesion in all patients with Central DI. All of these utilized oral or inhalatory DDAVP treatment. Patients with Nephrogenic DI were trated with Hydrochlrothiazide. Conclusion: Polydipsia, polyuria, hyperthermia with hypernatremia are suggestive of DI in the first year of life. Water deprivation test is diagnostic in differentiating Central and Nephrogenic DI. MRI is an essential diagnostic tool in CDI. Manegement should be multidisciplinary, including a pediatician, nephrologist, endocrinologist and nutricionist.

Introducción: La diabetes insípida (DI) se caracteriza por poliuria y polidipsia, secundario a una disminución de la secreción o acción de la hormona antidiurética. Su diagnóstico precoz es fundamental. Objetivo: Describir las características clínicas, radiológicas y tratamiento inicial de una serie de ocho pacientes con DI. Diseño: Estudio descriptivo-restrospectivo. Universo: Pacientes con DI evaluados en la Universidad Católica de Chile y Hospital Dr. Sótero del Río entre 1998-2008. Pacientes y Métodos: Desde la ficha clínica se analizaron variables clínicas, epidemiológicas, bioquímicas e imágenes. Se determinó Osmolaridad sérica (OsmS) y urinaria (OsmU). Se consideró DI sí la OsmS > 300 mOsm con OsmU < 600 mOsm, Di-central (DIC) sí posterior a DDAVP la OsmU aumento > 50 por ciento ó > 600 mOsm, de los contrario se clasificó como nefrogénica (DIN). Resultados: Se reclutaron ocho pacientes con DI (5 varones), fueron DIN 3/8. El motivo de consulta fue: polidipsia-poliuria (5/8), hipertermia (2/8) y talla baja (1/8). La RNM mostró lesión intracraneana en todos los pacientes con DIC: nodulo hipofisiario, aracnoidocele selar, Histiocitosis X, germinoma y un paciente sin se±al de neurohipófisis. Los sujetos con DIC usaron DDAVP inhalatoria (4) y oral (1). Los sujetos con DIN usaron hidroclorotiazida. Conclusión: Polidipsia, poliuria, hipertermia con hipernatremia y falla de medro en lactantes son sugerentes de DI. La prueba de deprivación hídrica es fundamental en la diferenciación de DIC y DIN. La RNM cerebral es una herramienta diagnóstica imprescindible en la DIC. El tratamiento de estos pacientes debe ser multidiciplinario interactuando pediatra, nefrólogo, endocrinólogo y nutricionista.

[Short duration of initial intravenous treatment in 70 pediatric patients with osteoarticular infections]. / Tratamiento intravenoso inicial abreviado en 70 pacientes pediátricos con infecciones osteo-articulares.

UNLABELLED: Osteoarticular infections (OAI) are infrequent in pediatrics and there is controversy on the need for prolonged use of intravenous antimicrobials. OBJECTIVE: To characterize and describe evolution and complications of a regimen of 7 days initial intravenous antibiotic treatment for OAI in children, completing 4-6 weeks of total treatment. PATIENTS AND METHODS: In a large pediatric hospital, 70 children younger than 15 years of age were diagnosed with OAI between March 2003 and December 2004. Children received 7 days of intravenous antibiotics followed by 3 to 5 weeks of oral treatment. RESULTS: Incidence of OAI in this hospital was 1.8:10000. Patients mean age was 6.4 +/-4.4 years and 60% presented with septic arthritis, 36% osteomyelitis and 4% osteoarthritis. In 80% of cases, the infection was located in the lower extremity. Positive cultures were obtained in 59% predominating Staphylococcus aureus (46.5%). Seven patients had prolonged pain or persistently high or increasing serum C reactive protein levels and were maintained on prolonged intravenous therapy. None of the 63 children with 7 day intravenous antimicrobials nor the 7 children with prolonged intravenous use developed a complication in the short-term follow up. CONCLUSIONS: Seven days of intravenous antibiotic for the initial phase of OAI treatment was effective in a majority of children and may be recommended.

Tratamiento intravenoso inicial abreviado en 70 pacientes pediátricos con infecciones osteo-articulares / Short duration of initial intravenous treatment in 70 pediatric patients with osteoarticular infections

Osteoarticular infections (OAI) are infrequent in pediatrics and there is controversy on the need for prolonged use of intravenous antimicrobials. Objective: To characterize and describe evolution and complications of a regimen of 7 days initial intravenous antibiotic treatment for OAI in children, completing 4-6 weeks of total treatment. Patients and methods: In a large pediatric hospital, 70 children younger than 15 years of age were diagnosed with OAI between March 2003 and December 2004. Children received 7 days of intravenous antibiotics followed by 3 to 5 weeks of oral treatment. Results: Incidence of OAI in this hospital was 1.8:10000. Patients mean age was 6.4 ±4.4 years and 60 percent presented with septic arthritis, 36 percent osteomyelitis and 4 percent osteoarthritis. In 80 percent of cases, the infection was located in the lower extremity. Positive cultures were obtained in 59 percent predominating Staphylococcus aureus (46.5 percent). Seven patients had prolonged pain or persistantly high or increasing serum C reactive protein levels and were maintained on prolonged intravenous therapy. None of the 63 children with 7 day intravenous antimicrobials nor the 7 children with prolonged intravenous use developed a complication in the short-term follow up. Conclusions: Seven days of intravenous antibiotic for the initial phase of OAI treatment was effective in a majority of children and may be recommended.

Las infecciones osteoarticulares (IOA) son poco frecuentes en pediatría. Existe controversia acerca de la óptima duración y la vía de administración de la terapia antimicrobiana. Objetivo: Caracterizar y describir la evolución y complicaciones en niños con IOA que recibieron 7 días iniciales de terapia endovenosa, completando 4 a 6 semanas de terapia total. Pacientes y Métodos: Estudio descriptivo, que incluyó a 70 niños con diagnóstico de IOA, entre marzo de 2003 y diciembre de 2004 en un hospital pediátrico, quienes recibieron tratamiento endovenoso abreviado a 7 días, seguido de terapia oral por 3 a 5 semanas. Resultados: La incidencia de IOA fue de 1,8: 10.000 niños bajo 15 años de edad. El promedio de edad fue 6,4 ± 4,4 años. Sesenta por ciento presentaba artritis séptica, 36 por ciento osteomielitis y 4 por ciento osteoartritis. En 80 por ciento la infección se localizó en extremidades inferiores. Los cultivos fueron positivos en 59 por ciento. En 46,5 por ciento se aisló Staphylococcus aureus. Siete niños evolucionaron con dolor persistente o elevación significativa de PCR y requirieron prolongar la terapia endovenosa y/o total, sin presentar complicaciones a corto plazo. Conclusiones: Siete días de terapia antimicrobiana intravenosa parece ser efectivo y recomendable para el tratamiento, en su fase inicial, de las infecciones osteo-articulares.

[Ramsay Hunt syndrome in children: four cases and review]. / Síndrome de Ramsay-Himt en pediatría: reporte de cuatro casos y revisión de la literatura.

Ramsay-Hunt Syndrome (RHS) is a rare affection characterized by peripheral facial paralysis (PFP), skin eruption in the auricular canal and cochleovestibular symptoms. It is produced by varicella-zoster virus (VZV) reactivation at the geniculate ganglia. We report four patients between 3 and 17 years-old with RHS. Earache was the first symptom in two cases and three had cochleovestibular compromise. The direct immunofluorescence from the vesicular lesion was positive for VZV in two of them. All patients received treatment with aeyelovir and in three cases, this was associated with steroids. Three children had complete resolution of the PFP. RHS is an infrequent disease in the pediatric population and it should be suspected in children with PFP, erythema, vesicles and/or auricular pain. Early treatment with aeyelovir therapy could improve the recovery rate of facial nerve palsy.

Insuficiencia suprarrenal primaria de etiología autoinmune: dos casos clínicos / Autoimmune primary adrenal failure: 2 cases report

Introducción: La insuficiencia suprarrenal primaria (ISRP) es producida por diversas etiologías, congénitas o adquiridas. Su sintomatología es poco específica, exigiendo un alto índice de sospecha. Objetivo: Presentación de dos casos clínicos y revisión de ISRP. Casos Clínicos: Dos niños de 9 y 6 años, ambos con astenia y adinamia, dolor abdominal, baja de peso y vómitos, con avidez por la sal, con mal estado general, lipotimia, hiperpigmentación de piel y mucosas. Se confirmó el diagnóstico de ISRP con compromiso en la secreción de cortisol, y mineralocorticoides. Ambos tuvieron anticuerpos antiadrenales positivos. Conclusiones: La ISRP es poco frecuente en pediatría, sin embargo, es potencialmente de riesgo vital, de manera que reconocer precozmente sus síntomas permitirá realizar un diagnóstico y tratamiento oportuno.

Infección del tracto urinario en un servicio de urgencia pediátrico: Frecuencia y características clínicas / Urinary tract infection in a pediatrics emergency department: Frequency and clinical parameters

La infección del tracto urinario (ITU) es una de las infecciones bacterianas frecuentes en pediatría. Con el objetivo de caracterizar niños con ITU que consultan en un servicio de urgencia (SU) chileno, se revisaron 18.302 consultas pediátricas, donde se solicitó urocultivo a 1.173, de ellos 246 fueron positivos. La frecuencia de ITU fue de 1,34% en el total de consultas y de 21% en quienes se solicitó urocultivo. El riesgo relativo para ITU fue 1,78 veces mayor en mujeres. La presentación clínica principal fue fiebre y molestias urinarias. Sobre 2 años de edad fueron factores de riesgo la presencia de molestias urinarias e ITU previa. El agente más frecuentemente aislado fue Escherichia coli (86%). Se hospitalizó el 9% de los niños con ITU. La ITU es frecuente en consultantes al SU pediátrico debiendo considerarse el análisis de orina en lactantes febriles, especialmente varones bajo 12 meses de edad.

[Urinary tract infection in a pediatrics emergency department: frequency and clinical parameters]. / Infección del tracto urinario en un servicio de urgencia pediátrico: Frecuencia y características clínicas.

Urinary tract infection (UTI) is a frequent bacterial infection in children. The objective was to define the profile of children with UTI that consulted in a Chilean pediatric emergency department (PED). We reviewed 18302 consultants and identified 1173 patients in whom urine culture (UC) were obtained. UC was positive in 264 cases. UTI represented 1.34% from total consultants and 21% from whom UC were obtained. UTI was 1.78 times more frequent in girls. The most common clinical presentation was fever and urinary tract symptoms. In older than 2 years, urinary tract symptoms and previous UTI, was a risk factor for UTI. The most frequent organism isolated was Escherichia coli (86%). Nine percent of child with UTI were hospitalized. UTI is a frequent diagnosis in PED and is important to consider urinalysis in febrile infants, especially boys younger than 12 months.

Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge / Clinical findings and immunologic variability in 9 patients with DiGeorge syndrome

Background: DiGeorge syndrome is characterized by developmental defects of the heart, parathyroid glands and thymus. Aim: To describe the clinical variability of DiGeorge syndrome and its relation with immunodeficiency. Patients and methods: A three years retrospective chart review from three hospitals of Santiago, Chile was conducted. We included patients with neonatal diagnosis of DiGeorge syndrome. Clinical and immuno-logic data were collected from their initial evaluation. Results: We found 9 patients with DiGeorge syndrome. All had dysmorphic facies, hypocalcemia and congenital heart disease. Three patients had hypoparathyroidism, 4 had interrupted aortic arch type B, 4 had tetralogy of Fallot and 1 had coarctation of aorta. Six patients had other malformations and associated diseases. FISH studies, performed in 8 patients, found the 22q11.2 microdeletion in all. Most patients had low CD3, CD4 and CD8 T cell counts, that ranged for CD3 T cells, between 256/mm3 and 3,664/mm3, for CD4 T cells, between 224/mm3 and 2,649/mm3, for CD8 T cells, between 26/mm3 and 942/mm3. Three patients had CD4 T cells counts <400/mm3 and one had a phytohemagglutinin stimulation index <10. Airway malformations and primary hypoparathyroidism were present in 3 out of 4 patients that died before 18 months compared with the surviving patients (p=0.048). Conclusions: We found variable clinical manifestations as well as CD3, CD4 and CD8 T cell counts in patients with DiGeorge syndrome. Airway malformations were associated with a higher mortality (Rev Méd Chile 2004; 132: 26-32).