Supraventricular tachycardia after withdrawal of prolonged dexmedetomidine infusion in a paediatric patient without heart disease.

WHAT IS KNOWN AND OBJECTIVE: Dexmedetomidine (DEX) has been reported to be safe in paediatric patients. CASE DESCRIPTION: We present the case of a girl without heart disease admitted at our PICU due to an influenza A acute respiratory distress syndrome, who suffered a paroxysmal supraventricular tachycardia (PSVT) twelve hours after DEX progressive withdrawal was completed. WHAT IS NEW AND CONCLUSION: This is the first report of PSVT as an adverse reaction to DEX in a paediatric patient without heart disease.

Pneumonia and purulent pericarditis caused by Streptococcus pneumoniae: an uncommon association in the antibiotic era.

Bacterial pericarditis in children has become a rare entity in the modern antibiotic era. The most common pathogen is Staphylococcus aureus, being Streptococcus pneumoniae an exceptional cause. We present 2 children, who were diagnosed of pneumonia complicated with a pleural effusion that developed a purulent pericarditis with signs of cardiac tamponade. One of them had received 4 doses of the 7-valent conjugated pneumococcal vaccine. Systemic antibiotics and pericardial and pleural drainages were used. Pneumococcal antigens were positive in pleural and pericardial fluids in both cases, and S. pneumoniae was isolated from pleural effusion in one of them. Both children fully recovered, and none of them developed constrictive pericarditis, although 1 case presented a transient secondary left ventricular dysfunction. Routine immunization with 10- and 13-valent vaccines including a wider range of serotypes should further decrease the already low incidence.

[Ethical attitudes of intensive care paediatricians as regards patients with spinal muscular atrophy type 1]. / Actitudes éticas de los pediatras de Cuidados Intensivos ante pacientes con atrofia muscular espinal tipo 1.

INTRODUCTION: Spinal muscular atrophy type 1 (SMA-1) is a progressive and fatal disease that leads to ethical problems for Paediatric professionals. Our objective was to determine the ethical options of Paediatric Intensive Care Unit (PICU) paediatricians as regards a child with SMA-1 and respiratory failure. MATERIAL AND METHODS: A cross-sectional descriptive study was conducted using an anonymous questionnaire sent to PICUs in Spain (which can be accessed through the Spanish Society of Paediatric Critical Care web page). RESULTS: Of the 124 responses analysed, 70% were from women, 51% younger than 40 years, 54% from a PICU with more than 10 beds, 69% with prior experience in such cases, and 53% with religious beliefs. In the last patient cared for, most paediatricians opted for non-invasive mechanical ventilation (NIV) and limitation of therapeutic effort (LET) in case of NIV failure. Confronted with a future hypothetical case, half of paediatricians would opt for the same plan (NIV+LET), and 74% would support the family's decision, even in case of disagreement. Age, prior experience and sex were not related to the preferred options. Paediatricians with religious beliefs were less in favour of initial LET. Less than two-thirds (63%) scored the quality of life of a child with SMA-1 and invasive mechanical ventilation as very poor. CONCLUSIONS: Faced with child with SMA-1 and respiratory failure, most paediatricians are in favour of initiating NIV and LET when such support is insufficient, but they would accept the family's decision, even in case of disagreement.

[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data]. / Pacientes españoles con síndrome de hipoventilación central incluidos en el Registro europeo. Datos del 2015.

INTRODUCTION: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. AIM: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. MATERIALS AND METHOD: An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015. RESULTS: The Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school. CONCLUSION: The implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques.

[First report of invasive fungal disease by Candida fabianii in a non-neonatal paediatric patient]. / Primer caso de infección fúngica invasora por Candida fabianii en un paciente pediátrico no neonatal.

BACKGROUND: Invasive fungal diseases have increased in recent years. Candida species are the most common aetiology. Candida albicans, Candida parapsilosis, Candida tropicalis, Candida glabrata and Candida krusei are the cause of most of them. The aim of this work is to describe the first isolation of Candida fabianii in the blood of a non-neonatal paediatric patient. CASE REPORT: A 2 year-old male with short bowel syndrome, severe malnutrition, and hypophosphataemic rickets deficiency was admitted to paediatric intensive care due to a respiratory tract infection and suspicion of an intestinal pseudo-obstruction. He received several cycles of broad-spectrum antibiotics for several infections due to Pseudomonas aeruginosa and Escherichia coli. After the surgical correction of the intestinal disorder he suffered a new episode of sepsis where yeasts were isolated by culture. The species identification was performed by means of mass spectrometry (MALDI-TOF system, Bruker Daltonic). The identity of the isolate was C.fabianii (anamorph)/Pichia fabianii (teleomorph) with a score of 2.149. Antifungal treatment with caspofungin was prescribed, with good progress of the patient. CONCLUSIONS: Molecular techniques are important for the identification of these species, although mass spectrometry offered a reliable and rapid diagnosis. Treatment with caspofungin was effective.

Severe pneumonia by Mycoplasma as an adverse event of everolimus therapy in patients with tuberous sclerosis complex.

BACKGROUND: Epilepsy is one of the most common symptoms in Tuberous Sclerosis Complex (TSC), appearing mainly in the first year of life and often resistant to therapy. Several studies have demonstrated the effectiveness of everolimus but its safety in children has not yet been well reported. We present two cases of severe pneumonia caused by Mycoplasma in two children receiving everolimus for epilepsy secondary to TSC. STUDY CASES: Both patients were admitted to the PICU for severe pneumonia with pleural effusion. One of them needed support with high concentration of oxygen and broad spectrum antibiotics and the other developed a septic shock with acute respiratory distress needing mechanical ventilation, vasoactive drugs, pleural drainage and broad-spectrum antibiotics. Everolimus was discontinued and in both patients Mycoplasma pneumoniae was identified by PCR. Both patients were discharged without sequelae. CONCLUSION: Everolimus therapy for epilepsy in the context of TCS could be associated, as in these two cases, with severe bacterial infection by Mycoplasma.

Actitudes éticas de los pediatras de Cuidados Intensivos ante pacientes con atrofia muscular espinal tipo 1 / Ethical attitudes of intensive care paediatricians as regards patients with spinal muscular atrophy type 1

INTRODUCCIÓN: La atrofia muscular espinal tipo 1 (AME-1) es una enfermedad progresiva e incurable que plantea problemas éticos entre los profesionales de Pediatría. Nuestro objetivo ha sido conocer las opciones éticas de los pediatras de UCIP ante los pacientes con AME-1 y fracaso respiratorio. MATERIAL Y MÉTODOS: Estudio descriptivo transversal, mediante una encuesta anónima enviada a las UCIP de España y accesible en la web de la Sociedad Española de Cuidados Intensivos Pediátricos. RESULTADOS: Analizamos 124 respuestas (70% mujeres, 51% menores de 40 años, 54% de UCIP con más de 10 camas, 69% con experiencia previa con estos niños y 53% con creencias religiosas). En el último caso atendido, la mayoría de los pediatras optó por la ventilación no invasiva (VNI), realizando después limitación del esfuerzo terapéutico (LET). Ante un hipotético caso futuro, la mitad de los pediatras apoyarían la misma opción (VNI+LET) y el 74% apoyaría la decisión de la familia, aunque no coincidiera con la suya. No se observaron diferencias según la edad, la experiencia previa o el sexo. Los pediatras con creencias religiosas son menos partidarios de la LET inicial. El 63% considera que la calidad de vida de un niño con AME-1 y ventilación invasiva es muy mala. CONCLUSIONES: Ante un niño con AME-1 y fracaso respiratorio, la mayoría de los pediatras de UCIP están a favor de iniciar la VNI y realizar LET cuando dicho soporte no sea suficiente, pero apoyarían la decisión de la familia aunque no estuvieran de acuerdo con ella

INTRODUCTION: Spinal muscular atrophy type 1 (SMA-1) is a progressive and fatal disease that leads to ethical problems for Paediatric professionals. Our objective was to determine the ethical options of Paediatric Intensive Care Unit (PICU) paediatricians as regards a child with SMA-1 and respiratory failure. MATERIAL AND METHODS: A cross-sectional descriptive study was conducted using an anonymous questionnaire sent to PICUs in Spain (which can be accessed through the Spanish Society of Paediatric Critical Care web page). RESULTS: Of the 124 responses analysed, 70% were from women, 51% younger than 40 years, 54% from a PICU with more than 10 beds, 69% with prior experience in such cases, and 53% with religious beliefs. In the last patient cared for, most paediatricians opted for non-invasive mechanical ventilation (NIV) and limitation of therapeutic effort (LET) in case of NIV failure. Confronted with a future hypothetical case, half of paediatricians would opt for the same plan (NIV+LET), and 74% would support the family's decision, even in case of disagreement. Age, prior experience and sex were not related to the preferred options. Paediatricians with religious beliefs were less in favour of initial LET. Less than two-thirds (63%) scored the quality of life of a child with SMA-1 and invasive mechanical ventilation as very poor. CONCLUSIONS: Faced with child with SMA-1 and respiratory failure, most paediatricians are in favour of initiating NIV and LET when such support is insufficient, but they would accept the family's decision, even in case of disagreement

Primer caso de infección fúngica invasora por Candida fabianii en un paciente pediátrico no neonatal / First report of invasive fungal disease by Candida fabianii in a non-neonatal paediatric patient

Antecedentes. Las enfermedades fúngicas invasoras se han incrementado en los últimos años, y las de especies del género Candida son las de etiología más común. Candida albicans, Candida parapsilosis, Candida tropicalis, Candida glabrata y Candida krusei son las responsables de la mayoría de las infecciones fúngicas. El objetivo de este trabajo es describir el primer aislamiento en sangre de Candida fabianii en un paciente pediátrico no neonatal. Caso clínico. Varón de 2 años de edad con síndrome de intestino corto, malnutrición severa y raquitismo hipofosfatémico carencial, que ingresó en la unidad de cuidados intensivos pediátricos por una infección respiratoria de vías bajas y sospecha de pseudoobstrucción intestinal. Precisó varios ciclos de antibioterapia de amplio espectro por infecciones por Pseudomonas aeruginosa y Escherichia coli. Tras la corrección quirúrgica de su patología intestinal comenzó con un nuevo episodio de sepsis, del que se aislaron levaduras por cultivo. La identificación se realizó mediante espectrometría de masas por el sistema MALDI-TOF (Bruker Daltonic). El resultado obtenido fue el de C. fabianii (anamorfo)/Pichia fabianii (teleomorfo), con un score de 2,149. Se inició un tratamiento antifúngico con caspofungina, con buena evolución del paciente. Conclusiones. Es importante realizar técnicas de biología molecular para la identificación de este tipo de especies, aunque la espectrometría de masas ofreció un diagnóstico fiable y rápido. El tratamiento con caspofungina fue eficaz (AU)

Background. Invasive fungal diseases have increased in recent years. Candida species are the most common aetiology. Candida albicans, Candida parapsilosis, Candida tropicalis, Candida glabrata and Candida krusei are the cause of most of them. The aim of this work is to describe the first isolation of Candida fabianii in the blood of a non-neonatal paediatric patient. Case report. A 2 year-old male with short bowel syndrome, severe malnutrition, and hypophosphataemic rickets deficiency was admitted to paediatric intensive care due to a respiratory tract infection and suspicion of an intestinal pseudo-obstruction. He received several cycles of broad-spectrum antibiotics for several infections due to Pseudomonas aeruginosa and Escherichia coli. After the surgical correction of the intestinal disorder he suffered a new episode of sepsis where yeasts were isolated by culture. The species identification was performed by means of mass spectrometry (MALDI-TOF system, Bruker Daltonic). The identity of the isolate was C. fabianii (anamorph)/Pichia fabianii (teleomorph) with a score of 2.149. Antifungal treatment with caspofungin was prescribed, with good progress of the patient. Conclusions. Molecular techniques are important for the identification of these species, although mass spectrometry offered a reliable and rapid diagnosis. Treatment with caspofungin was effective (AU)

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.

OBJECTIVES: To search for biochemical and molecular markers for the diagnosis of patients and carriers with 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency. DESIGN AND METHODS: Organic acids in urine, MHBD activity in fibroblasts, immunoblotting and molecular studies were performed in seven patients. Seven carriers were also studied. RESULTS: Under low protein diet or poor feeding all the patients showed only a slightly altered organic acid profile. Measurement of 2-methyl-3-hydroxybutyric acid and tiglylglycine after an isoleucine loading test, failed to demonstrate the carrier status of one patient. However, measurement of 2-ethylhydracrylic acid (EHA) was positive in all the carriers tested. MHBD activity was clearly deficient in males and in one female patient. We identified four missense mutations, two of them were novel. CONCLUSIONS: Quantification of EHA may be of help for the diagnosis of the heterozygous condition. The carrier females showed the classical biochemical variability of X-linked diseases due to random X-chromosome inactivation.