Recurrent infective endocarditis due to Aggregatibacter aphrophilus and Staphylococcus lugdunensis.

Uncommon microorganisms are increasingly being recognized as causative agents of paediatric infectious endocarditis (IE). We report a 4-year old girl with congenital heart disease, who suffered from 2 IE episodes secondary to Aggregatibacter aphrophilus (formerly Haemophilus aphrophilus) and Staphylococcus lugdunensis, both rarely reported pathogens in this age group. The patient was initially successfully treated with prolonged intravenous antibiotic courses, however removal of the Contegra valved conduit during the second episode was required due to recurrence of fever and development of pulmonary embolism despite completion of antibiotic therapy. A. aphrohilus is a member of the fastidious gram negative microorganisms of the HACEK group (Haemophilus spp., Aggregatibacter spp, Cardiobaterium hominis, Eikenella corrodens and Kingella kingae), that colonize the oropharynx and are a recognised cause of IE. Prognosis of children with IE due to HACEK group members varies, half of them suffering from complications and mortality rates of 10-12.5%. Although S. lugdunensis belongs to coagulase negative staphylococci (CONS), it behaves more like S. aureus species rather than CONS. This microorganism is a well-described cause of endocarditis in adult patients, associated with high requirements of surgical procedures and mortality (42-78%). In conclusion, paediatric IE can be caused by uncommon microorganisms associated with severe complications and potential fatality. The isolation of S. lugdunensis or A. aphrophilus in febrile patients should be considered clinically relevant and cardiac involvement must be ruled out. Those patients with proved IE will require prolonged intravenous antibiotic courses and in complicated cases surgical intervention.

Enfermedad de Kawasaki neonatal grave / Severe neonatal Kawasaki disease

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Estudio descriptivo de 101 casos de meningitis bacterianas (1986-2000) / Descriptive study of 10 cases of bacterial meningitis (1986-2000)

Objetivo: Describir las características epidemiológicas y clínicas de las meningitis bacterianas en nuestro medio. Pacientes y métodos. Estudio retrospectivo de 101 casos de meningitis bacterianas vistos entre enero de 1986 y diciembre de 2000. La muestra incluye a 66 varones y 35 mujeres de edades comprendidas entre 1 mes y 12 años. Se realiza un estudio descriptivo de diversas variables epidemiológicas y clínicas. Resultados: El 75 por ciento de las meningitis bacterianas se manifestó en menores de 5 años ocurriendo esto para Haemophilus influenzae b en el 92 por ciento de los pacientes. Etiología: Neisseria meningitidis (49 por ciento), decapitadas (28 por ciento), H. influenzae b (13 por ciento), germen desconocido (8 por ciento) y neumococo (3 por ciento). El 54 por ciento de los casos recibió tratamiento previo, lo que dificultó conocer la etiología. Predominó N. meningitidis en primavera-verano y las petequias facilitaron el diagnóstico precoz y se asociaron a ella. El cuadro clínico más común fue fiebre (99 por ciento), seguida de vómitos (88 por ciento), alteración de la conciencia (76 por ciento) y signos meníngeos (56 por ciento). El cultivo del LCR resultó positivo en el 54 por ciento y se realizó hemocultivo en el 38 por ciento de los casos. Entre las complicaciones más frecuentes figuran: sepsis, shock, convulsiones y coagulación intravascular diseminada. Se observó un incremento del serogrupo C de N. meningitidis desde 1997, lo que representa. el 85 por ciento del total. Un 6 por ciento de las cepas de Neisseria meningitidis fue moderadamente sensible a la penicilina. Conclusiones: Germen más frecuente: N. meningitidis b. Incremento del serogrupo C desde 1997. Descenso de H. influenzae b. Secuelas: 3 por ciento. Mortalidad: 1 por ciento. 1. Buena sensibilidad a penicilina de N meningitidis; 2. Resistencia de H. influenzae b a ampicilina y cloranfenicol; 3. Gran porcentaje de tratamiento previo; 4. Menor edad en meningitis complicadas; 5. Menor número de complicaclones en meningitis decapitadas (AU)

Implantación de stents en cardiología pediátrica. Resultados iniciales / Use of stents in pediatric cardiology. Initial results

Antecedentes y objetivo: Un stent es un dispositivo útil en el tratamiento de lesiones estenóticas vasculares asociadas a cardiopatías congénitas. En el año 1997 iniciamos nuestra experiencia, cuyos resultados se exponen en este trabajo. Pacientes y método: Se han implantado 17 stents, en 12 niños con edad media de 82 meses (2-168 meses) mediante 13 procedimientos. Ocho pacientes tenían estenosis de ramas pulmonares posquirúrgicas; 3 pacientes recoartaciones de aorta y uno, cardiopatía compleja dependiente del ductus. En los primeros 8 pacientes se efectuó cateterismo derecho y se siguió la técnica habitual de implantación con guía de alto soporte y vaina de Mullins. En los restantes el abordaje fue por vía arterial femoral. Se utilizaron 13 stents de Palmaz; 3 stents Express; y uno, Intrastent. Resultados: El diámetro de las lesiones se incrementó tras el implante desde 3,1 (2,8-5,6) hasta 12 (10-15) mm (p<=0,002), y el gradiente a través de las estenosis descendió desde 32 (21-45) a 8,5 (0-11,5) mmHg (p<=0,002). En el paciente dependiente del ductus permitió la suspensión de prostaglandinas y el alta hospitalaria. Tras un seguimiento medio de 27 meses (1-60) ha habido una oclusión completa tardía de rama pulmonar y una parcial de arteria lobular superior derecha. Un enfermo falleció por causas ajenas al stent (shock cardiogénico previo), el resto están asintomáticos y no precisan medicación. Conclusión: El stent es un dispositivo seguro y eficaz. Puede ser utilizado en una amplia variedad de lesiones estenóticas (AU)

[Use of stents in pediatric cardiology. Initial results]. / Implantación de stents en cardiología pediátrica. Resultados iniciales.

BACKGROUND AND AIM: Balloon-expandable stents are useful in treating vascular stenotic lesions associated with congenital heart defects. We report our experience of this device since 1997. PATIENTS AND METHOD: Seventeen stents were implanted in 12 children in 13 procedures. The mean age of the patients was 82 months (range: 2-168 months). Eight patients had postsurgical stenoses in branch pulmonary arteries, three patients had aortic re-coarctation and one patient had a ductus-dependent complex heart defect. In the first eight patients we performed right catheterization, following the usual technique of percutaneous implantation with super-stiff wire and Mullins sheath. In the remaining patients, vascular access was through the femoral artery. The Palmaz stent was used in 13 patients, Express stents in three and Intrastent in one patient. RESULTS: After stent implantation, the diameter of the narrowings increased from 3.1 mm (2.8-5.6) to 12 mm (10-15) (p < 0.002) and the gradient was reduced from 32 mmHg (21-45) to 8.5 mmHg (0-11.5) (p < 0.002). In the patient with ductus-dependent heart defect, the procedure allowed prostaglandin E1 withdrawal and hospital discharge. After a mean follow-up of 27 months (range: 1-60 months) one occurrence of late complete occlusion of branch pulmonary artery and one case of side-branch partial occlusion (right superior lobe branch) have been detected. One patient died from causes unrelated to the stent (prior cardiogenic shock). The remaining patients are asymptomatic and medication free. CONCLUSION: The stent is a safe and effective device that could be used in a wide variety of stenotic vascular lesions.

Estudio clínico y evolutivo de 10 casos de enfermedad de Kawasaki / Study of the clinical features and course of 10 cases of Kawasaki disease

Objetivo: Describir nuestra experiencia en la enfermedad de Kawasaki, así como características clínicas, evolución, tratamiento y complicaciones cardiológicas de los pacientes diagnosticados en nuestro Centro. Material y método: Valoración clínica, analítica y cardiológica de 10 casos de enfermedad de Kawasaki diagnosticados en nuestro hospital desde 1988 a 2000. Resultados: Edad media de 2 años y 8 meses (rango: de 4 meses a 10 años). Relación hombre-mujer: 1,5/1. En todos ellos se cumplieron 5 de los 6 criterios considerados fundamentales, estando siempre presentes: fiebre, lesiones orofaríngeas, exantema, inyección conjuntival y descamación de manos y pies. En menor medida hubo: eritema indurado de manos y pies, adenopatías cervicales y fisuras labiales (80%), eritema oral difuso (60%) y descamación perineal (30%). Existió retraso diagnóstico en el paciente que debutó con una gran adenopatía cervical. Se presentaron alteraciones cardíacas en la fase aguda, leves y transitorias en el 40% de pacientes, y un paciente manifestó un aneurisma coronario cuyo tamaño aumentó tras un nuevo brote febril no tratado. El tratamiento se realizó en todos con ácido acetilsalicílico, y en siete de ellos, con gammaglobulina intravenosa. No hubo ningún caso de infarto de miocardio ni de fallecimiento. Conclusión: Todos los casos fueron típicos, presentando cinco criterios diagnósticos. Existió retraso diagnóstico en los de presentación no habitual. Hubo recaída de la enfermedad en un paciente, en el que empeoró el aneurisma que previamente sufría. Existió retraso diagnóstico en los de presentación no habitual. Hubo recaída de la enfermedad en un paciente, en el que empeoró el aneurisma que previamente sufría. Existió retraso del tratamiento en el 80% de los casos (AU)

Objective: To report our experience in Kawasaki disease, describing the clinical characteristics, course, treatment and cardiological complications of patients diagnosed in our center. Material and method: Clinical, analytical and cardiological evaluation of 10 cases of Kawasaki disease diagnosed in our hospital from 1988 to 2000. Results: The mean patient age was 2 years 8 months (range: 4 months to 10 years). The male-to-female ratio was 1.5 to 1. All the patients met 5 of the 6 criteria considered fundamental, with fever, oropharyngeal injuries, exanthema, conjunctival injection and desquamation of hands and feet. Some also presented indurated rash on hands and feet, cervical lymphadenopathy and cracked lips (80%), diffuse oral rash (60%) and perineal desquamation (30%). Diagnosis was delayed in a patient who presented with marked cervical lymphadenopathy. Cardiac symptoms appeared in the acute phase; they were mild and transient in 40% of patients, and one child had a coronary aneurysm which increased in size after an untreated bout of fever. All were treated with acetylsalicylic acid, accompanied by intravenous gammaglobulin in 7. There were no cases of myocardial infarct and no deaths. Conclusion: All the cases were typical, with patients meeting 5 diagnostics criteria. Diagnosis was delayed in those in whom the presentation was unusual. One patient had a relapse, which produce a negative effect on his aneurysm. Treatment was delayed in 80% of cases (AU)

Sepsis por neisseria meningitidis en el periodo Neonatal: a propósito de un caso / Sepsis by Neisseira meningitidis in a Neonatal period: based on one case

Neisseria meningitidis es el microorganismo que con mayor frecuencia origina sepsis bacteriana en niños mayores de 2 años en nuestro país. Su incidencia en el período neonatal es extremadamente rara. Presentamos un caso de sepsis por Neisseria meningitidis serogrupo B en una niña de 23 días, que cursó con síntomas típicos de esta entidad. A pesar de su rareza, es necesario incluirlo en el diagnóstico diferencial de los cuadros febriles con petequias en el periodo neonatal (AU)

Congenital erythropoietic porphyria affecting two brothers.

We report two brothers, aged 5 and 2 years, with typical features of congenital erythropoietic porphyria. The elder did not receive medical attention until the age of 2 years, even though his urine had been red almost from birth, and despite severe scarring of the hands and face. The younger brother suffered haemolysis at birth. The uroporphyrinogen III cosynthase (URO IIIS) enzyme activity of red blood cells was 2% and 1.2% in the brothers, and genetic studies showed two different mutations of the URO IIIS gene, C73R and P248Q. The latter is a recently described mutation.

A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.

Congenital erythropoietic porphyria (CEP) or Günther's disease is an inborn error of heme biosynthesis, transmitted as an autosomal recessive trait and characterized by a profound deficiency of uroporphyrinogen III synthase activity (UROIIIS). The molecular defects observed in CEP are mainly heterogeneous, except for one missense mutation, C73R (Cys to Arg substitution at codon 73) which represents nearly 40% of the disease alleles. A convenient strategy was designed to establish a rapid diagnosis at the genetic level in samples from patients with CEP. As a first step, the most frequent mutation is searched for by restriction analysis from genomic. DNA amplified by PCR. Next, the nine coding exons and intron-exon boundaries are sequenced from genomic DNA. As an alternative, the mutation can be determined by sequencing the UROIIIS cDNA of the patient, using the RT-PCR technique on RNAs when a lymphoblastoid cell line can be established. Finally, for each new mutation in UROIIIS coding sequence, the corresponding mutant protein is expressed in Escherichia coli, in order to demonstrate the pathological significance of the mutation. This work describes the analysis of UROIIIS gene mutations in 10 new families with CEP and summarizes the data from 20 unrelated families studied in our laboratory. Three new missense mutations of UROIIIS coding sequence (H173Y, Q187P and P248Q) have been observed together with 8 known mutations. The significance of three intronic base changes (476 -31 T-->C; 562 -4 A-->T; 562 -23 A-->G) is discussed. In 6 alleles out of 40 (15%), the mutation remains undetermined.

[Children at risk. Our experience]. / Niños de riesgo. Nuestra experiencia.

Seventy children in a situation of risk, evaluated and treated in the Social Work Unit of the Children's Hospital "Virgen del Rocío" over a period of 22 months, were analyzed. Of these children, 89% corresponded to low-middle, low or very low social classes. The most common problems included those of the family (77.1%) with history of maltreatment and unwanted pregnancies being the most prevalent problems. In second place was the personal pathology of the parents (74.2%), with mental disorders and alcoholism being the main causes, followed by drug addiction and delinquency. Social factors (57.1%), which included predominantly unemployment and illiteracy, were the next most common finding. The final factor was the personal pathology of the child (10%). The consequences of the risk situation are described, emphasizing the psychic and treatment carried out. Final comments are made underlining the importance of awareness and professional training, multiprofessional teams, means of detecting and intervention into the problems, manpower and material as well as how to carry out studies in this area.

[Guillain-Barre syndrome in children. Analysis of 23 cases]. / El síndrome de Guillain Barré en el niño. Análisis de 23 casos.

A group of 23 children aged 5 months to 6 years a diagnosis of Guillain Barré syndrome has been analysed. In 2/3 of our patients the illness appeared in autumn-winter period. We considered muscle weaknesses, pain and impairments of cranial nerves to be the main characteristics of the disease. The presence of denervation activity was an indication of worse evolutive prognosis. Hormone treatment was started in 21 cases and plasma exchange in one more, with rapid reduction of the vegetative and the motor symptoms. The progress was considered to be highly favourable in all of them. One child had a recidivant form of this disease.