Fibroelastosis endocárdica: descripción de un nuevo caso clínico desde atención primaria / Endocardial fibroelastosis: reporting a new case from the outpatient’s department

La fibroelastosis endocárdica es una causa reconocida, aunque poco frecuente, de muerte súbita infantil. Se trata de una enfermedad rara con un índice de mortalidad muy alto. Su presentación típica es la de una insuficiencia cardiaca global de rápida evolución o arritmias, que requiere un trasplante cardiaco. Se presenta el caso de una niña de 19 meses de edad que, tras un proceso afebril compatible con un cuadro de vías respiratorias altas de 24 horas de evolución, presenta un paro cardiorrespiratorio y es trasladada a un área básica de salud, falleciendo a las pocas horas de su ingreso en la unidad de cuidados intensivos a la que fue derivada posteriormente. En el estudio post mortem se hallaron cambios compatibles con una fibrosis laxa endocárdica(AU)

Endocardial fibroelastosis is a known but rare cause for sudden death in children. It is a rare disease with a high rate of mortality. Its usual presentation is similar to global cardiac insufficiency or arrhythmia leading to heart transplantation. We report the case of a 19-month old female who, after having 24 hours of a non feverish upper respiratory infection, went into cardiac arrest and was taken to the outpatient's department, but died a few hours later in the intensive care unit. In post-mortem studies evidence of endocardial fibrosis laxa was found(AU)

Utilización de la craniectomía descompresiva en el manejo de la hipertensión intracraneal refractaria en la edad pediátrica / Use of decompressive craniectomy in the management of refractory intracranial hypertension in paediatric patients

Introducción y objetivo: La hipertensión intracraneal (HITC) es la principal causa de mortalidad y secuelas de los pacientes con traumatismo craneoencefálico grave. La craniectomía descompresiva (CD) es una técnica quirúrgica que permite disminuir la presión intracraneal y mejorar la presión de perfusión cerebral (PPC). El objetivo del trabajo es presentar la experiencia con la CD para el tratamiento de la hipertensión intracraneal. Pacientes y métodos: Revisión retrospectiva de los pacientes ingresados entre los años 2005–2008 con lesión cerebral e hipertensión intracraneal incontrolable médicamente a los que se les realizó una CD como terapia. Resultados: Se incluyen 14 pacientes con traumatismo craneoencefálico grave con una mediana de edad de 14,2 años (4–20 años). Las lesiones detectadas más frecuentemente en la TC craneal de los niños con traumatismo fueron las lesiones encefálicas difusas II y III. En todos se practicó una CD por presentar cifras de presión intracraneal elevadas refractarias a la terapéutica instaurada. La evolución fue favorable en todos los pacientes salvo en 2. El 78,8% presenta una buena evolución neurológica (Glasgow Outcome Score 4 y 5) a los 6 meses de la intervención. Conclusión: La CD es una alternativa en el manejo de la hipertensión intracraneal refractaria al tratamiento médico en niños y adolescentes que han sufrido un traumatismo craneoencefálico grave y puede ser usada simultáneamente o como alternativa al coma barbitúrico sobre todo en aquellos pacientes con inestabilidad hemodinámica (AU)

Introduction and objective: Intracranial hypertension (ICH) is the main cause of morbidity and mortality in patients with severe traumatic head injuries. Decompressive craniectomy (DC) is a surgical technique that allows to reduce intracranial pressure (ICP) and to improve cerebral blood flow. Objective: To present our experience on DC for the treatment of ICH. Patients and methods: Retrospective review of patients admitted from January 2005 to December 2008 who had a traumatic brain injury (TBI) and uncontrollable intracranial hypertension despite optimal medical treatment and who needed DC. Results: Fourteen patients with severe TBI were included in this series. Mean age was 14.2 years (4–20 years). The more frequent damages detected in cranial computerized tomography were diffuse brain lesions types II and III. Indication for DC was made if ICP levels were above 25mmHg for more than 30min despite optimal medical treatment. Clinical outcome was favourable in all patients apart from two. Neurological outcome was correct in 78.8% of patients (Glasgow Outcome Score 4 and 5) six months after PICU discharge. Conclusion: DC is an alternative for the management of refractory intracranial hypertension in children and adolescents with severe TBI. It could be used simultaneously with the barbiturate coma or as an alternative, particularly in haemodynamically unstable patients (AU)

[Use of decompressive craniectomy in the management of refractory intracranial hypertension in paediatric patients]. / Utilización de la craniectomía descompresiva en el manejo de la hipertensión intracraneal refractaria en la edad pediátrica.

INTRODUCTION AND OBJECTIVE: Intracranial hypertension (ICH) is the main cause of morbidity and mortality in patients with severe traumatic head injuries. Decompressive craniectomy (DC) is a surgical technique that allows to reduce intracranial pressure (ICP) and to improve cerebral blood flow. OBJECTIVE: To present our experience on DC for the treatment of ICH. PATIENTS AND METHODS: Retrospective review of patients admitted from January 2005 to December 2008 who had a traumatic brain injury (TBI) and uncontrollable intracranial hypertension despite optimal medical treatment and who needed DC. RESULTS: Fourteen patients with severe TBI were included in this series. Mean age was 14.2 years (4-20 years). The more frequent damages detected in cranial computerized tomography were diffuse brain lesions types II and III. Indication for DC was made if ICP levels were above 25 mmHg for more than 30 min despite optimal medical treatment. Clinical outcome was favourable in all patients apart from two. Neurological outcome was correct in 78.8% of patients (Glasgow Outcome Score 4 and 5) six months after PICU discharge. CONCLUSION: DC is an alternative for the management of refractory intracranial hypertension in children and adolescents with severe TBI. It could be used simultaneously with the barbiturate coma or as an alternative, particularly in haemodynamically unstable patients.

Métodos diagnósticos complementarios: ¿cuál es su utilidad clínica real en las encefalitis herpéticas? / Complementary diagnostic methods: which is their actual clinical utility in herpetic encephalitis?

Objetivos: Caracterizar la forma de presentación clínica de laencefalitis herpética y comprobar la utilidad de las diferentesexploraciones complementarias en su manejo.Material y métodos: Revisión retrospectiva de los casos deencefalitis herpética, diagnosticados mediante reacción en cadenade la polimerasa (PCR) cuantitativa, que requirieron ingresoen unidades de cuidados intensivos pediátricas. Se recogierondatos acerca de la evolución clínica y la sensibilidad de losdiferentes métodos diagnósticos complementarios. En 7 casosse reevaluó el líquido cefalorraquídeo (LCR) mediante cuantificaciónde ADN por PCR y se correlacionó la carga viral con losdiferentes datos clínicos.Resultados: En total se detectaron 16 casos. El rango deedad osciló entre los 19 días y los 12 años (edad media: 34meses). La forma de presentación clínica fue indiferenciable dela presentada por otras encefalitis, y predominó la existenciade fiebre (en un 81% de los casos), convulsiones (68%), vómitos(62%) y disminución del nivel de conciencia (50%). La sensibilidadde la neuroimagen y los estudios neurofisiológicosfue inferior al 80% (e inferior al 50% en las primeras 24 horasdel cuadro). Observamos una excelente sensibilidad de la PCRcuantitativa en el diagnóstico y la detección de la carga viral.Se correlacionó positivamente de forma estadísticamente significativala carga viral con la edad del paciente, el número deleucocitos en el LCR y el tiempo de evolución del cuadro. Nohubo correlación entre la carga viral y el pronóstico de la enfermedad(AU)

Conclusiones: Ni la presentación clínica, ni la neuroimagen ni los estudios neurofisiológicos disponen de una sensibilidad suficiente como para orientar el diagnóstico. Por el contrario, la PCR cuantitativa a tiempo real sí es sensible para el diagnóstico de la encefalitis herpética. No se ha correlacionado la carga viral con el pronóstico, aunque son necesarios más estudios para evaluar la utilidad clínica de esta técnica (AU)

Objectives: Depict the form of the clinical manifestation of the herpetic encephalitis and prove the utility of the different complementary explorations in its use. Material and methods: Retrospective revision of the herpeticencephalitis cases diagnosed through quantitative PCR which required to be admitted in UCIP (Intensive Care and Pediatric Urgencies). There was a collection of data regarding the clinical evolution and the sensitivity of the different complementary diagnostic methods. In the 7 cases the LCR was reevaluated through DNA quantification by means of PCR and the viral load was correlated with the different clinical data. Results: 16 cases altogether. Their ages ranged between 19 days and 12 years (mean age: 34 months). The clinical manifestation was undistinguishable of the presented by other encephalitis. Main symptoms were fever (81% of the cases), convulsions (68%), vomiting (62%) and diminished level of consciousness (50%). Imaging tests and neurophysiological studies sensitivity were less than 80% (being less than 50% in the first 24 hours since the symptoms onset). Quantitative PCR is the gold standard for the detection of viral load. Viral load was positively correlated with age, number of leukocytes in CSF and time since beginning of the clinical manifestation. There was no correlation between viral load and disease prognosis. Conclusions: Neither the clinical presentation or neuroimaging or neurophysiological studies have enough sensitivity for helping diagnosis. On the contrary, we have found that realtime quantitative PCR is useful for the diagnosis of herpeticencephalitis. There was no association between viral load and illness prognosis. The viral load has not been correlated with the clinical picture. However, more studies are needed to evaluate the clinical utility of this technique (AU)

Intususcepción ileal por tumor carcinoide en paciente con insuficiencia renal crónica / No disponible

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[ECMO: experience in paediatrics]. / ECMO: experiencia en edad pediátrica.

INTRODUCTION: ECMO (Extracorporeal Membrane Oxygenation) provides a vital support to patients with supposed reversible respiratory and/or cardiac failure, in whom conventional support techniques have been previously unsuccessful. OBJECTIVES: To determinate the criteria used in our hospital to put paediatric patients on ECMO, compare their clinical course depending on their pathology (respiratory failure, congenital heart disease or sepsis) and identify the sequelae attributable to this technique. MATERIAL AND METHOD: A retrospective review of clinical records of all patients on ECMO support in our centre, excluding those presenting typically in neonatal period. RESULTS: ECMO was used on 16 patients from June 2001 to January 2007, of which 50% were males. The median age was 7 months (from 21 days to 11 years). The reason for starting ECMO was respiratory failure in 11 cases (oxygenation index >40 and/or alveolar-arterial oxygen gradient >605), congenital heart disease in 2 and sepsis in 3 (due to shock unresponsive to adequate resuscitation). The median time to starting ECMO from PICU admission was 3.58 days (from 12h to 9 days). Venovenous cannulation was used initially in 8 patients, but 5 of them needed venoarterial ECMO later. The technique was used for a mean of 8 days (from 1 to 28 days). The main complication was the isolation of bacteria in different cultures (8 patients). The overall survival was 50% (6 patients with respiratory failure and both patients submitted to cardiac surgery). Extracorporeal support was withdrawn in 7 children because their clinical situation was irreversible. Another patient died seven days after successful decannulation. We have not found any serious sequel among survivors that could be attributable to this technique. CONCLUSIONS: Survival among children supported with ECMO in our hospital is similar to that recorded by the ELSO in 2004, although the prognosis depends on the initial pathology. There are different criteria for starting this technique depending on the underlying diseases: respiratory index of poor prognosis in patients with respiratory failure, haemodynamic instability in those with sepsis or cardiac failure after cardiovascular surgery. We have not found any serious sequel among the survivors which could be attributable to this technique.

Fibrobroncoscopia terapéutica en UCI pediátrica / Therapeutic fiberoptic bronchoscopy in the pediatric intensive care unit

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Indications and therapeutical options in hepatolithiasis.

OBJECTIVE: to present our experience with the treatment of hepatolithiasis. EXPERIMENTAL DESIGN: a retrospective study. Every patient operated on during 2002-2004. RESULTS: mean age was 68.2 years. All patients were male. Two patients had been operated on before. The other three suffered from: monolobar Caroli s disease (1), cholangiocarcinoma (1), and hepatolihtiasis without clear etiologic factors (1). All of them had intrahepatic and extrahepatic litihiasis. Clinical signs included: pain in RUQ, fever, and jaundice. Bilirubin was 3.5 mg/dl (min: 1.7, max: 5.9), GGT: 676.2 IU/l (min: 29, max: 2039), and alkaline phosphatase: 400 IU/l (min: 100, max: 1136). Abdominal ultrasounds always correctly diagnosed HL. CT (3 patients) only diagnosed one case. ERCP (3 patients) and cholangio-MRI (2 patients) always diagnosed HL correctly. Surgical procedures were: hepatojejunostomy with lavage of bile duct (2 cases) and hepatectomy (3 cases) -both right (1) and left (2). We always performed an intraoperative ultrasonography and choledoscopy. Morbidity was: biliary fistula (1 case) treated by percutaneous drainage. No mortality occurred. Median stay was 8.8 days. Mean follow-up is 12 months (min: 11, max: 20). No relapse has been observed. CONCLUSIONS: HL is infrequent in Spain. Surgical treatment, usually liver resection, obtains good results with low morbidity and mortality.

Indicaciones y opciones terapéuticas en la hepatolitiasis / Indications and therapeutical options in hepatolithiasis

Objetivo: presentar nuestra experiencia en el tratamiento dela hepatolitiasis (HL).Pacientes y métodos: diseño experimental: estudio retrospectivode casos. Se han incluido todos los pacientes intervenidosde hepatolitiasis entre 2002 a 2004.Resultados: la edad media fue 68,2 años, todos ellos varones.Dos pacientes habían sido intervenidos previamente. Losotros tres presentaban: enfermedad de Caroli monolobar (1), colangiocarcinoma(1) y hepatolitiasis sin factores etiológicos asociados.Todos los pacientes presentaban litiasis de localización intrahepáticay extrahepática. La clínica habitual fue: dolor enhipocondrio derecho, fiebre e ictericia. La bilirribuna media fue:3,5 mg/dl (mínimo: 1,7, máximo: 5,9), GGT: 676,2 UI/l (mínimo:29, máximo: 2039), y fosfatasa alcalina: 400 UI/l (mínimo:100, máximo: 1136). La ecografía detectó siempre la HL. Se realizóTAC en 3 pacientes, que sólo observó la HL en uno. LaCPRE, realizada en 3 pacientes, diagnosticó correctamente la HL.La colangioRMN, efectuada en dos ocasiones, fue siempre diagnóstica.Las intervenciones fueron: hepaticoyeyunostomía y lavadode la vía biliar (2 pacientes) y hepatectomía (3 casos): derecha(1) e izquierda (2). Se practicó siempre ecografía y coledoscopiaintraoperatoria. La morbilidad fue: fístula biliar tratada mediantedrenaje percutáneo. No se produjo mortalidad. La estancia mediafue 8,8 días. El seguimiento medio es de 12 meses (mínimo: 11,máximo: 20) y no hemos observado recidiva de HL.Conclusiones: la HL es infrecuente en España. El tratamientoquirúrgico, frecuentemente hepatectomía, obtiene buenos resultadoscon baja morbimortalidad

Objective: to present our experience with the treatment ofhepatolithiasis.Patients and methods: experimental design: a retrospectivestudy. Every patient operated on during 2002-2004.Results: mean age was 68.2 years. All patients were male.Two patients had been operated on before. The other three sufferedfrom: monolobar Caroli's disease (1), cholangiocarcinoma(1), and hepatolihtiasis without clear etiologic factors (1). All ofthem had intrahepatic and extrahepatic litihiasis. Clinical signs included:pain in RUQ, fever, and jaundice. Bilirubin was 3.5 mg/dl(min: 1.7, max: 5.9), GGT: 676.2 IU/l (min: 29, max: 2039),and alkaline phosphatase: 400 IU/l (min: 100, max: 1136). Abdominalultrasounds always correctly diagnosed HL. CT (3 patients)only diagnosed one case. ERCP (3 patients) and cholangio-MRI (2 patients) always diagnosed HL correctly. Surgicalprocedures were: hepatojejunostomy with lavage of bile duct (2cases) and hepatectomy (3 cases) –both right (1) and left (2). Wealways performed an intraoperative ultrasonography and choledoscopy.Morbidity was: biliary fistula (1 case) treated by percutaneousdrainage. No mortality occurred. Median stay was 8.8 days.Mean follow-up is 12 months (min: 11, max: 20). No relapse hasbeen observed.Conclusions: HL is infrequent in Spain. Surgical treatment,usually liver resection, obtains good results with low morbidity andmortality

Tumor mesenquimal de vesícula biliar / Gastrointestinal stromal tumor of the gallbladder

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Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.

Two novel mutations of the ribosomal S6 kinase 2 gene (also known as RSK2) have been identified in two unrelated patients with Coffin-Lowry syndrome. The first mutation consists of a de novo insertion of a 5'-truncated LINE-1 element at position -8 of intron 3, which leads to a skipping of exon 4, leading to a shift of the reading frame and a premature stop codon. The L1 fragment (2800 bp) showed a rearrangement with a small deletion, a partial inversion of the ORF 2, flanked by short direct repeats which duplicate the acceptor splice site. However, cDNA analysis of the patient shows that both sites are apparently not functional. The second family showed the nucleotide change 803T>C in exon 10, resulting in the F268S mutation. This mutation was detected in two monozygotic twin patients and in their mother, who was mildly affected. The patients fulfill the clinical criteria of the syndrome, and therefore the mutation provides further support for the importance of phenylalanine at position 268, which is highly conserved in the protein kinase domain of many serine-threonine protein kinases.

Use of the Pediatric Risk of Mortality Score as predictor of death and serious neurologic damage in children after submersion.

OBJECTIVE: To evaluate the Pediatric Risk of Mortality score (PRISM score) as a tool to evaluate the vital and neurologic prognosis of patients after submersion. METHODS: We conducted a retrospective analysis of the clinical histories of patients admitted to a tertiary pediatric hospital, Hospital Sant Joan de Déu, Barcelona, Spain from December 1977 to December 1999 as a consequence of near-drowning. PRISM score was calculated for each patient with data obtained upon arrival at the hospital. The probability of death was calculated using this score. RESULTS: There were 60 patients, divided into two groups as they were admitted to the Pediatric Intensive Care Unit (PICU group, n = 41) or to the Short Stay Unit (SSU group, n = 19). All patients in the SSU group survived without impairments, with PRISM scores or=24 or with probability of death >or=42% either died or had serious neurologic impairment. One third of patients with PRISM scores between 17 and 23 and/or probability of death between 16 and 42% either presented serious neurologic impairment or died. CONCLUSIONS: PRISM score enables the determination of either absence or presence of serious impairment or death in pediatric patients after submersion, if they present extreme values on this scale. However, in patients with intermediate PRISM scores, it is not possible to establish a reliable prognosis.

[Neuromuscular pathology in a critical pediatric patient]. / Patología neuromuscular del paciente crítico en pediatría.

OBJECTIVE: To describe and provide diagnosis guidelines for the neuromuscular pathology of the pediatric critical patients, manifested as extubation difficulty, based in our experience. CLINICAL CASES: A retrospective study has been performed on three patients in the Pediatric Intensive Care Unit that were diagnosed by using clinical, analytical and electromyographical findings. In the three patients the presence of the disorder was suspected due to the extubation difficulty and the hypotony. All them received vecuronium as neuromuscular blockage while dexamethasone was provided to one of them due to a nodal tachycardia. Myopathic causes were discarded in view of the normally of the muscular enzymes. The electromyography showed an axonal disorder in all three child. Neither lumbar puncture nor muscular biopsy were performed in any of them. CONCLUSIONS: The three patients were diagnosed for a drug neuropathy (neuromuscular blocked and/or corticotheraphy). There were described another causes of the critical patient polyneuropathy in the literature, but we didn't find any of them.

Nager anomaly with severe facial involvement, microcephaly, and mental retardation.

A girl is reported who has severe facial abnormalities with preaxial anomalies of upper and lower limbs indicative of Nager syndrome. Additional findings include marked microcephaly, mental retardation, and normal hearing.