Diagnóstico clínico de síndrome de Levy-Hollister familiar / Clinical diagnosis of familial Levy-Hollister syndrome

El síndrome lácrimo-aurículo-dento-digital (síndrome LADD o también conocido como síndrome de Levy-Hollister) es un defecto autosómico dominante con expresividad variable. Este síndrome se caracteriza por la asociación de displasias en diversos órganos y sistemas que afectan a las estructuras craneofaciales, incluyendo glándulas lagrimales y salivales, dientes, oído interno y externo y el esqueleto óseo. Presentamos este síndrome inusual y desconocido (es el primer caso en nuestro estado del que existen solamente cerca de 100 casos descritos, distribuidos en pocas familias) en referencia a un adolescente de 17 años ingresado en la Unidad de Cuidados Intensivos Pediátricos por otro motivo y que tras la exploración física se llega a un diagnóstico clínico en toda la rama familiar

Lacrimo-auriculo-dento-digital syndrome (LADD syndrome), also known as Levy-Hollister syndrome, is an autosomal dominant defect with variability on phenotypical expression. This syndrome is characterised by the association of dysplasia in various organs and systems that affect craniofacial structures, including lachrymal and salivary glands, teeth, internal and external ear, and the bone skeleton. We present this unusual and almost unknown syndrome (the first case in our state, with only about 100 cases described in the world, distributed in a few families) in a teenager of 17 years admitted to PICU for another reason. After the physical examination, a clinical diagnosis was made in the entire family branch

Papel de la craniectomía descompresiva en el tratamiento de la hipertensión intracraneal refractaria, secundaria a encefalitis / The role of decompressive craniectomy in management of refractory intracranial hypertension due to encephalitis

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[Clinical diagnosis of familial Levy-Hollister syndrome]. / Diagnóstico clínico de síndrome de Levy-Hollister familiar.

Lacrimo-auriculo-dento-digital syndrome (LADD syndrome), also known as Levy-Hollister syndrome, is an autosomal dominant defect with variability on phenotypical expression. This syndrome is characterised by the association of dysplasia in various organs and systems that affect craniofacial structures, including lachrymal and salivary glands, teeth, internal and external ear, and the bone skeleton. We present this unusual and almost unknown syndrome (the first case in our state, with only about 100 cases described in the world, distributed in a few families) in a teenager of 17 years admitted to PICU for another reason. After the physical examination, a clinical diagnosis was made in the entire family branch.

Rabdomiolisis secundaria a hipernatremia / Rhabdomyolysis secondary tohypernatraemia

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Enfermedad respiratoria y parálisis diafragmática en la enfermedad de Charcot-Marie-Tooth / Respiratory disease and diaphragm paralysis in Charcot-Marie-Tooth disease

La disfunción diafragmática bilateral es una entidad infrecuente. Dentro del ámbito pediátrico las causas más comunes son las asociadas a traumatismo obstétrico o cirugía cardiovascular. En el diagnóstico diferencial se incluye la enfermedad de Charcot-Marie-Tooth (CMT).Si bien en esta enfermedad es infrecuente, la afectación de la musculatura respiratoria, por su carácter distal, está descrita su asociación con neumopatía restrictiva secundaria a una disfunción del nervio frénico con paresia diafragmática bilateral o anomalías de la pared torácica. Presentamos 2 casos de CMT que ingresaron en la Unidad de Cuidados Intensivos con fallo respiratorio tipo II. En ambos casos el tratamiento con ventilación no invasiva produjo una mejoría clínica significativa. A destacar el hecho de que en uno de los pacientes la evidencia de una afectación frénica sirvió como signo guía para el diagnóstico de su enfermedad de base (AU)

Diaphragmatic bilateral palsy is uncommon in children. The most important etiologies are thoracic surgery and obstetric trauma. Respiratory muscle impairment is a rare phenomenon in patients with Charcot-Marie-Tooth disease (CMT). However, it can be associated with restrictive pulmonary impairment, phrenic nerve dysfunction or thoracic cage abnormalities. We report two paediatric cases of CMT disease with type 2 respiratory failure due to diaphragmatic dysfunction. In both cases treatment with non-invasive mechanical ventilation resulted in satisfactory clinical improvement. Evidence of phrenic damage was the main clue in one patient in order to obtain an accurate diagnostic of her disease (AU)

[Respiratory disease and diaphragm paralysis in Charcot-Marie-Tooth disease]. / Enfermedad respiratoria y parálisis diafragmática en la enfermedad de Charcot-Marie-Tooth.

Diaphragmatic bilateral palsy is uncommon in children. The most important etiologies are thoracic surgery and obstetric trauma. Respiratory muscle impairment is a rare phenomenon in patients with Charcot-Marie-Tooth disease (CMT). However, it can be associated with restrictive pulmonary impairment, phrenic nerve dysfunction or thoracic cage abnormalities. We report two paediatric cases of CMT disease with type 2 respiratory failure due to diaphragmatic dysfunction. In both cases treatment with non-invasive mechanical ventilation resulted in satisfactory clinical improvement. Evidence of phrenic damage was the main clue in one patient in order to obtain an accurate diagnostic of her disease.

Aplicación de ventilación no invasiva en pacientes postoperados cardíacos. Estudio retrospectivo / Non-invasive ventilation after cardiac surgery. A prospective study

Objetivos: Describir según la experiencia de los autores el uso de la ventilación no invasiva (VNI) en pacientes postoperados cardíacos. Material y métodos: Estudio prospectivo de los pacientes postoperados cardíacos ingresados en la unidad de cuidados intensivos pediátricos (UCIP) entre los años 2004 y 2007 que precisaron VNI tras extubación. Resultados: Durante este período se intervinieron de cirugía cardíaca 331 pacientes, de los cuales 159 pacientes llegaron extubados a la unidad. Se aplicó VNI en 29 episodios sobre 26 pacientes. Las cardiopatías más frecuentes fueron Fallot y canal auriculoventricular. Diecinueve (65%) pacientes presentaron fallo respiratorio (FR) de tipo II y el resto presentó FR de tipo I. Los problemas respiratorios más frecuentes fueron el edema agudo de pulmón (EAP) y la atelectasia. En un 70% de los episodios la indicación fue electiva. El tipo de respirador más utilizado fue el BiPAP Vision y, en cuanto a la modalidad, la más utilizada fue el Spontaneous/Timed que supuso el 56%. La duración media de la VNI fue de 64h (rango de 41 a 88h). Los pacientes tuvieron una estancia media en la UCIP de 22 días. Nueve pacientes requirieron reintubación, ninguno de ellos de forma precoz (primeras 12h), lo que supone una eficacia del 66%. La eficacia de la VNI se correlacionó con el tipo de enfermedad y de forma inversa con las horas de uso de ésta. Se presentaron complicaciones en 12 episodios. Cuatro pacientes requirieron traqueostomía, todos ellos presentaban neumopatía asociada a hiperaflujo pulmonar previo. No falleció ningún paciente. Conclusiones: La VNI es eficaz y segura durante el postoperatorio cardíaco. Su eficacia es muy alta en caso de atelectasia o de EAP. El fracaso de la VNI se asocia de forma destacada a la afectación pulmonar previa a la cirugía, secundaria a la cardiopatía. Debe plantearse con cautela la indicación de la VNI en este subgrupo de pacientes (AU)

Aim: To report our experience with non-invasive ventilation (NIV) after cardiac surgery. Materials and methods: Prospective study of cardiac surgery patients admitted to our PICU between 2004 and 2007 who required NIV after extubation. Results: A total of 331 patients were admitted to the unit after cardiac surgery during this period. Of these, 159 were extubated in the operatin groom. NIV was introduced in 29 episodes on 26 patients. Fallot’s tetralogy and AVD were the most common heart diseases, and 65% had type II respiratory failure. The respiratory problems usually involved were acute pulmonary oedema and atelectasis. Indication was elective in 70% of episodes. BiPAP Vision was the common est ventilator used and in the S/T mode(56%). Average length of use was 64h. Average length of stay in PICU was 22 days. Nine patients required reintubation, none of them at an early stage (first12h) which represents an efficiency of 66%. The effectiveness of NIV was related to the type of disease and inversely with the time NIV was needed. There were complications in 12 episodes. Four patients required tracheostomy, all of which were associated with previous lung disease. Survival was 100%. Conclusions: NIV is effective and safe after cardiac surgery. It has very good results in respiratory failure due to atelectasis or pulmonary oedema. NIV failure in these patients is strongly associated with preoperative pulmonary sequelae secondary to heart disease. NIV indication in these patients has to be carefully evaluated (AU)

[Pediatric intensive care after brain tumor surgery]. / Postoperatorio de tumores cerebrales en la unidad de cuidados intensivos pediátricos.

INTRODUCTION: Primary brain tumors are the most common solid tumors in children. Surgery is the basis of treatment for these patients, who require postoperative admission to the ICU-P. The aim of this study was to at the epidemiology of brain tumors of patients admitted to our ICU-P and to analyze the progress of these children in the postoperative period. PATIENTS AND METHODS: Retrospective-prospective study of children admitted to our unit after brain tumor surgery between January 1998 and January 2007. We collected information such as, personal details, clinical characteristics, type of intervention and postoperative period. RESULTS: We reviewed 161 postoperative periods, corresponding to 134 patients (54.5% male). The mean age was 7 years and 8 months +/- 5 months. The most common location was the posterior fossa (44.8%). The most common histological type was low grade/intermediate astrocytoma (44.7%). The most frequent complication was diabetes insipidus (9.9%). Resection was complete in 58.4% patients. The median stay in the ICU-P was 2 days (0-61 days). 3 patients died after surgery. CONCLUSIONS: The epidemiology of the group of patients admitted to our ICU-P is similar to the general population. The most common complication is diabetes insipidus.

[Non-invasive ventilation after cardiac surgery. A prospective study]. / Aplicación de ventilación no invasiva en pacientes postoperados cardíacos. Estudio retrospectivo.

AIM: To report our experience with non-invasive ventilation (NIV) after cardiac surgery. MATERIALS AND METHODS: Prospective study of cardiac surgery patients admitted to our PICU between 2004 and 2007 who required NIV after extubation. RESULTS: A total of 331 patients were admitted to the unit after cardiac surgery during this period. Of these, 159 were extubated in the operating room. NIV was introduced in 29 episodes on 26 patients. Fallot's tetralogy and AVD were the most common heart diseases, and 65% had type II respiratory failure. The respiratory problems usually involved were acute pulmonary oedema and atelectasis. Indication was elective in 70% of episodes. BiPAP Vision was the commonest ventilator used and in the S/T mode (56%).Average length of use was 64h. Average length of stay in PICU was 22 days. Nine patients required reintubation, none of them at an early stage (first 12h) which represents an efficiency of 66%. The effectiveness of NIV was related to the type of disease and inversely with the time NIV was needed. There were complications in 12 episodes. Four patients required tracheostomy, all of which were associated with previous lung disease. Survival was 100%. CONCLUSIONS: NIV is effective and safe after cardiac surgery. It has very good results in respiratory failure due to atelectasis or pulmonary oedema. NIV failure in these patients is strongly associated with preoperative pulmonary sequelae secondary to heart disease. NIV indication in these patients has to be carefully evaluated.

Postoperatorio de tumores cerebrales en la unidad de cuidados intensivos pediátricos / Pediatric intensive care after brain tumor surgery

Introducción: Los tumores primarios cerebrales son la neoplasia sólida más frecuente en la infancia. La base fundamental del tratamiento de estos pacientes es la cirugía, cuyo postoperatorio requiere ingreso en la unidad de cuidados intensivos pediátricos (UCIP). Los objetivos de nuestro trabajo son: conocer la epidemiología de los tumores que ingresan en nuestra unidad y analizar el postoperatorio de estos niños. Pacientes y métodos: Estudio prospectivo y retrospectivo de todos los niños intervenidos de tumor cerebral desde enero de 1998 hasta enero de 2007 en nuestro hospital. Se recogen datos referentes a filiación, características clínicas, tipo de intervención y postoperatorio. Resultados: Se revisan 161 postoperatorios, correspondientes a 134 pacientes (el 54,5%, varones). La media ± desviación estándar de edad es 7 años y 8 meses ± 5 meses. La localización más frecuente es la fosa posterior (44,8%). El tipo histológico principal es el astrocitoma de grado bajo/intermedio (44,7%). La complicación más frecuente es la diabetes insípida (9,9%). La resección es total en el 58,4% de los pacientes. La mediana de estancia en UCIP es de 2 días (0-61 días). Fallecieron 3 pacientes tras la intervención. Conclusiones: La epidemiología del grupo de pacientes que llega a UCIP es similar a la población general. La complicación más frecuente es la diabetes insípida (AU)

Introduction: Primary brain tumors are the most common solid tumors in children. Surgery is the basis of treatment for these patients, who require postoperative admission to the ICU-P. The aim of this study was to at the epidemiology of brain tumors of patients admitted to our ICU-P and to analyze the progress of these children in the postoperative period. Patients and methods: Retrospective-prospective study of children admitted to our unit after brain tumor surgery between January 1998 and January 2007. We collected information such as, personal details, clinical characteristics, type of intervention and postoperative period. Results: We reviewed 161 postoperative periods, corresponding to 134 patients (54.5% male). The mean age was 7 years and 8 months±5 months. The most common location was the posterior fossa (44.8%). The most common histological type was low grade/intermediate astrocytoma (44.7%). The most frequent complication was diabetes insipidus (9.9%). Resection was complete in 58.4% patients. The median stay in the ICU-P was 2 days (0–61 days). 3 patients died after surgery .Conclusions: The epidemiology of the group of patients admitted to our ICU-P is similar to the general population. The most common complication is diabetes insipidus (AU)

[Hemolytic-uraemic syndrome. A review of 58 cases]. / Síndrome hemolítico-urémico. Revisión de 58 casos.

OBJECTIVES: Our objectives were to determine epidemiology, clinical and laboratory characteristics of patients with haemolytic-uraemic syndrome (HUS) treated in our centre, to describe renal and extra-renal complications and the treatment required and to relate our findings with the existing bibliography. METHODS: We performed a 33-year retrospective review. We included all patients diagnosed with HUS and monitored in our hospital from January 1974 to August 2007. Clinical histories and imaging studies were reviewed. RESULTS: A total of 58 patients were included in our study, with a mean age of 2 years 11 months and most of them were admitted to hospital in summer. Familial hypocomplementaemia was present in one case. A total of 48 patients presented with typical HUS (with diarrhoea D+ HUS). Salmonella enteritidis and Escherichia coli O157:H7 were isolated from those patients. While 7 cases presented with atypical HUS (without diarrhoea, D- HUS), most of them associated with a respiratory tract infection due to Streptococcus. In one case platelet count was normal. Kidney biopsy was performed in 18 patients and 25 cases underwent peritoneal dialysis. As regards complications, one child with D+ HUS experienced renal cortical necrosis and required kidney transplant, while in the D-HUS group, the patient with familial hypocomplementaemia had severe hypertension. CONCLUSIONS: a) Incidence of HUS in our environment is low. b) HUS can be present even with a normal platelet count. c) We had one case of HUS in a patient with familial hypocomplementaemia who experienced severe hypertension. d) In our group of patients, the course of the disease was not influenced by the white blood cell counts, decreased diuresis or hypocomplementaemia.

Síndrome hemolítico-urémico. Revisión de 58 casos / Hemolytic-uraemic syndrome. A review of 58 cases

Objetivos: Nuestros objetivos han sido determinar aspectos epidemiológicos, formas clínicas y analíticas de los pacientes con síndrome hemolítico-urémico (SHU) tratados en nuestros centros, así como describir las complicaciones renales y extrarrenales, el tipo de tratamiento requerido y relacionar nuestros casos con la bibliografía actual. Métodos: Efectuamos una revisión retrospectiva de la historia clínica, analítica y estudios de diagnóstico por imagen de los pacientes con diagnóstico de SHU, atendidos desde enero de 1974 hasta agosto de 2007, es decir, durante los últimos 33 años. Resultados: Un total de 58 pacientes fueron incluidos en nuestro estudio, con una edad media de 2 años y 11 meses; de ellos, estaban ingresados en verano 34 niños. Destaca la presencia de hipocomplementemia familiar en un caso. Con SHU típico (diarrea positivo [D+]) aparecieron 48 casos en los que se aislaron Salmonella enteritidis y Escherichia coli 0157:H7. Con SHU atípico (diarrea negativo [D-]) se contabilizaron 7 casos, y entre las causas destacaban procesos respiratorios de etiología estreptocócica. El recuento plaquetario fue normal en un caso. De los procedimientos empleados cabe destacar que se realizó biopsia renal en 18 pacientes y diálisis peritoneal en 25 casos. Entre las complicaciones se encontraron: en el grupo D+, un caso de necrosis cortical que requirió trasplante renal y en el grupo D-, un paciente con SHU familiar, hipocomplementemia e hipertensión arterial maligna. Conclusiones: Hemos llegado a las siguientes conclusiones: a) la enfermedad presenta una baja incidencia en nuestro medio; b) se ha detectado un caso con plaquetas normales; c) un paciente presentó SHU familiar recurrente con hipocomplementemia e hipertensión arterial grave, y d) indicadores como la leucocitosis, la oligoanuria o la hipocomplementemia no influyeron en el curso de la enfermedad (AU)

Objectives: Our objectives were to determine epidemiology, clinical and laboratory characteristics of patients with haemolytic-uraemic syndrome (HUS) treated in our centre, to describe renal and extra-renal complications and the treatment required and to relate our findings with the existing bibliography. Methods: We performed a 33-year retrospective review. We included all patients diagnosed with HUS and monitored in our hospital from January 1974 to August 2007. Clinical histories and imaging studies were reviewed. Results: A total of 58 patients were included in our study, with a mean age of 2 years 11 months and most of them were admitted to hospital in summer. Familial hypocomplementaemia was present in one case. A total of 48 patients presented with typical HUS (with diarrhoea D+ HUS). Salmonella enteritidis and Escherichia coli O157:H7 were isolated from those patients. While 7 cases presented with atypical HUS (without diarrhoea, D- HUS), most of them associated with a respiratory tract infection due to Streptococcus. In one case platelet count was normal. Kidney biopsy was performed in 18 patients and 25 cases underwent peritoneal dialysis. As regards complications, one child with D+ HUS experienced renal cortical necrosis and required kidney transplant, while in the D-HUS group, the patient with familial hypocomplementaemia had severe hypertension. Conclusions: a) Incidence of HUS in our environment is low. b) HUS can be present even with a normal platelet count. c) We had one case of HUS in a patient with familial hypocomplementaemia who experienced severe hypertension. d) In our group of patients, the course of the disease was not influenced by the white blood cell counts, decreased diuresis or hypocomplementaemia (AU)

Epidemiología y hallazgos clínicos de la sepsis neonatal tardía en la unidad de cuidados intensivos pediátricos / Epidemiology and clinical findings in late-onset neonatal sepsis in the pediatric intensive care unit

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