[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.

[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.

[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.

[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.

[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.

[Fluid and electrolyte disorders following surgery for brain tumors]. / Trastornos hidroelectrolíticos en postoperados de tumores cerebrales.

INTRODUCTION: Fluid and electrolyte disorders such as diabetes insipidus, salt wasting syndrome (SWS) and syndrome of inappropriate antidiuretic hormone secretion (SIADH) can appear in the immediate postoperative period after surgery for brain tumors. Early diagnosis and treatment are important to prevent the potential adverse effects of these disorders on the central nervous system (CNS). OBJECTIVES: To determine the incidence and characteristics of fluid and electrolyte disorders in the immediate postoperative period after surgery for CNS tumors in children treated in our hospital. MATERIAL AND METHODS: We retrospectively analyzed clinical and laboratory data in all infants and children who underwent surgery for CNS tumors in our hospital from January 1998 to June 2005 and who met the laboratory criteria for diabetes insipidus, SWS or SIADH. RESULTS: Twenty-three electrolyte disorders were identified in 149 surgical patients (an incidence of 15.4%). The median age was 5 years and 3 months (from 6 months to 17 years) and 48.7% of the patients were male. The most frequent electrolyte disturbance was diabetes insipidus (65.2% of all electrolyte disorders). On average, onset of diabetes insipidus occurred 19 hours after surgery. Treatment with desmopressin was administrated in all patients. On average, diabetes insipidus was resolved 73 hours after diagnosis, except in one patient with permanent diabetes insipidus due to a surgical lesion of the hypothalamic-pituitary axis. The second most frequent electrolyte disturbance was SWS (26.1%) with a mean time of onset of 50.4 hours after surgery. On average, SWS was resolved 57.6 hours after administration of saline solutions. Only two patients developed SIADH, which was treated with water restriction and adequate sodium supply. Both cases of SIADH resolved spontaneously in the first 36 hours after diagnosis. At discharge, none of the patients showed neurological disturbances due to an electrolytic disorder. CONCLUSIONS: In our series, the most frequent electrolyte disorder after surgery for CNS tumors was diabetes insipidus. Early treatment with desmopressin almost always prevents hypernatremia. Unless there is a surgical lesion of the hypothalamic-pituitary axis, spontaneous resolution will take place in 3 days on average. The management of SWS and SIADH requires close monitoring of plasma sodium due to the risk of hyponatremia.

[Seat belt syndrome. Acute spinal cord injury due to incorrect use of two-point seat belts]. / Síndrome del cinturón de seguridad: lesión medular aguda por uso incorrecto del cinturón de seguridad de dos puntos.

Traumatic spinal cord injury (SCI) is a rare entity in the pediatric age group. These injuries are mainly caused by road traffic accidents (RTA), especially in children not wearing a seat belt. The use of child safety devices such as seat belt restraints has decreased morbidity and mortality in RTA but their incorrect use can also produce serious injuries that are grouped under the term "seat-belt syndrome". This syndrome associates vertebral and spinal cord injuries, intra-abdominal, cutaneous, and muscle-skeletal lesions. We present three patients with complete spinal cord and intra-abdominal injuries, requiring urgent surgery in two of them. On examination, all three patients had seat belt marks on the lower abdominal region. The three patients can be included in this syndrome and its main cause was the use of a two-point seat belt.

[Pediatric acute spinal cord injury]. / Lesión medular aguda en edad pediátrica.

INTRODUCTION: Pediatric acute spinal cord injury is rare but is often associated with significant disability and prolonged stay in the intensive care unit (ICU). OBJECTIVES: The main objective of this study was to determine the epidemiology, initial clinical abnormalities, diagnostic studies, treatment and outcome of acute spinal cord injuries in a tertiary level pediatric hospital. A second objective was to analyze whether early tracheostomy allows earlier discharge of these patients. PATIENTS AND METHODS: A retrospective analysis of patients with acute spinal cord injuries admitted to our pediatric ICU since 1992 was performed. RESULTS: We included 16 patients in the study, 12 of whom were boys (75 %). The patients were aged from birth to 19 years on admission to the ICU. The length of stay in the ICU was between 12 hours and 6 years. The cause of the lesion was birth trauma in four patients; one died and the remaining three live at home under mechanical ventilation. Traumatic injuries occurred in seven patients, two of whom died; a further two live in a long-term care facility and the remaining three live at home. Vascular spinal malformation occurred in two patients, and the three remaining injuries occurred during the acute postoperative period following spinal surgery. Of the 16 children, 56.2 % were tracheostomized and 83 % of the survivors live at home. CONCLUSIONS: Early tracheostomy, the availability of invasive ventilation for home use and parent education permit earlier discharge of these patients and allow more of them to live at home.

[Neurofibromatosis type 2 as a result of a de novo mutation: a case report]. / Neurofibromatosis tipo 2 por mutación de novo. A propósito de un caso.

INTRODUCTION: Neurofibromatosis type 2 is a dominant autosomic hereditary disease which courses with distinct tumours of the central nervous system and scant cutaneous manifestations. The increased knowledge of the natural history and the genetics of NF 2 acquired over the past few years has shown that clinical onset possibly occurs during the paediatric age and an early diagnosis of these patients can be decisive in the final outcome. CLINICAL CASE: A 12 year old girl who visited the clinic because of a month old presentation of cervical tumour, otalgia and dysphonia. Exploration revealed signs of cranial nerve disorder and the magnetic resonance (MR) showed bilateral schwannomas of the eighth cranial nerves. The extension study showed ocular, auditory, troncoencephalic and cervical spinal cord disorders. The patient died three months after hospital admission. The genetic study showed a de novo mutation in the NF 2 gene (chromosome 22q12). DISCUSSION: The identification of the various mutations that cause NF 2 has enabled the early diagnosis of the patient s relatives. However, there are still patients who have not been confirmed genetically. Furthermore, de novo mutations are not predictable. NF 2 diagnosis is still clinical. In the last few years, two disease phenotypes have been defined: mild and moderate/serious, which is associated with an early onset and de novo mutations. The high incidence rate of cataracts and other associated tumours, such as those affecting paraspinal and cutaneous areas together with meningiomas, which up until now could have gone unnoticed, has also been observed. Clinical onset in the paediatric age is more frequent than was expected and shows distinct and subtle symptoms.

[End-of-life decision-making in critical care]. / Limitación terapéutica en cuidados intensivos.

Introduction Termination of artificial life-support in critically-ill patients without chance of recovery or with severe damage is frequent in the intensive care unit (UCI). Patients and methodsWe studied the present situation concerning the withdrawal of life support in Spain using data collected over 10 years in referral hospitals with pediatric ICUs. Forty-nine patients were included, of which 43 had chronic diseases.ResultsThe most frequent causes of admission to the pediatric ICU in this type of patiens was respiratory failure followed by cardiovascular surgery. The family seemed to be a key element when taking a decision although in a few cases the medical team acted paternalistically. The most common ways of limiting life-support were withholding or withdrawing some treatments (mainly mechanical ventilation and vasoactive drugs) and implementing do-not-resuscitate orders. Sedation and suitable pain management were widely used in terminal care. After the decision to limit life-support was made, six patients were discharged from the pediatric ICU. ConclusionsAlthough each case should be treated individually, because of the wide variation found in the limitation of life-support, we suggest the need for common guidelines that could help the decision-making process.

[Postraumatic lesion of the carotid artery]. / Lesión postraumática de arteria carótida.

Postraumatic lesions of the carotid artery are very unusual in the general population and are especially rare in children due to the elasticity of their vessels. Because clinical expression of these lesions is mild, diagnosis can be delayed until the development of neurological signs, which are frequently irreversible. Neurological signs can be those of Horner's syndrome, drop attack, headache, vertigo, visual disorders, aphasia or transitory ischemic accidents. Carotid arterial lesion should be ruled out when the patient shows injuries in the soft tissue of the neck, when the neurological examination is incompatible with the findings of computed tomography (CT), when late neurological deficits develop or when the patient has Horner's syndrome. The patient reported herein presented partial motor seizures and hemiplegia 3 days after trauma. The most sensitive diagnostic test is angiography. Because this technique is aggressive, it is performed when suspicion is based on the results of Doppler sonography, CT or angiomagnetic resonance imaging. Treatment must be individualized. Standard therapy is anticoagulation but when this is contraindicated or the patient is asymptomatic anti-aggregating drugs are used. Thrombolytic treatment is reserved for the first few hours after injury. Surgical repair is the treatment of choice in patients with pseudoaneurysm. Because inaccessibility is one of the major difficulties in this type of surgery, intravascular stents can be a good therapeutic alternative in lesions unresponsive to medical treatment.

[Non-traumatic cerebral hemorrhage in childhood: etiology, clinical manifestations and management]. / Hemorragia cerebral no traumática en la infancia: etiología, manifestaciones clínicas y manejo.

OBJECTIVE: Non-traumatic intracranial hemorrhage is a rare occurrence in children, with the most frequent etiology being vascular malformation. Our aim was to review the etiology and management of spontaneous cerebral hemorrhage in children. PATIENTS AND METHODS: We have reviewed the patients admitted to our intensive care unit (ICU) with spontaneous intracranial hemorrhage from 1980 to 1998. The etiology, symptoms and their clinical management were analyzed. RESULTS: Forty patients with non-traumatic intracranial hemorrhage were admitted during this time period. The mean age was 6.8 years and the male/female ratio was 2.4/1. This condition presented with a sudden onset in 83%. The most common form of presentation was headache, vomiting and altered consciousness. The most frequent etiology was vascular malformation (32.2%). Initial management was symptomatic and addressed the prevention or treatment of intracranial hypertension and seizures. Mortality was 38% and there were sequelae in 35%. CONCLUSIONS: Management of critical non-traumatic intracranial hemorrhage consists in preventing or treating cerebral hypertension. The monitoring of intracranial pressure, jugular oxygen saturation and transcranial Doppler allows an indirect measurement of cerebral blood flow. Prompt excision of the hematoma improves the outcome. In vascular malformations, endovascular embolization or radiosurgery are possible.

[Moyamoya disease. A cause of vascular occlusion in childhood]. / Enfermedad de Moya-Moya. Una causa de oclusión vascular en la infancia.

OBJECTIVE: The objective of this study was to review the cases of Moya-Moya diagnosed in our center. PATIENTS AND METHODS: We reviewed the Moya-Moya cases diagnosed from 1979 to 1997. We evaluated the following elements: age of clinical onset, sex, clinical features, complementary examinations, neuroimage, treatment and follow-up. RESULTS: Six patients were diagnosed. The first case appeared in 1979 and the last in 1997. These included four boys and 2 girls, with ages between 5 months and 14 years. The initial clinical feature in all six cases was acute hemiparesis, noting that in one case this was preceded by homolateral seizures. Neuroimaging revealed ischaemic infarction areas in brain CT or MNR. The diagnosis was based on angiography, where in four cases there appeared bilateral occlusion of the internal carotid, or of the anterior or middle cerebral arteries and in the other two there was a unilateral occlusion of the interior carotid and middle cerebral arteries. Regarding etiology, in four patients the dysfunction was due to either fibromuscular dysplasia of the carotid, neurofibromatosis, cranial trauma or to Down's syndrome. In the other two cases no other primary cause was found. CONCLUSIONS: Acute stroke is an infrequent disease of pediatric age patients, however it is necessary to do a thorough angiography study to rule out the Moya-Moya like vascular anomalies.