Isolated fetal pericardial effusion follow-up: Should we worry?

INTRODUCTION AND OBJECTIVES: Fetal pericardial effusion appears in different pathologies such as hydrops fetalis, heart structural or rhythm alterations, however, it can be observed in isolation but an increase in its incidence has been observed in relation to the presence of severe pathologies. METHODS: Analysis of all cases of IFPE detected in Aragon and assessed in a cardiological consultation for prenatal diagnosis of a tertiary hospital collected over ten years, as well as the evolution of the patients to the present. RESULTS: A sample of 38 fetuses was obtained from 37 pregnant women diagnosed with DPFA with spontaneous resolution in 86.8%. Two abortions (voluntary interruptions after prenatal diagnosis of 22q13 deletion and primary infection by cytomegalovirus) and one spontaneous fetal death were recorded. Pathological alterations were observed in 10/38 newborns: two patients with metabolic disease, two patients with chromosomopathies, one patient with pulmonary hypoplasia and unilateral hydronephrosis, one patient with hypertrophic cardiomyopathy, and four patients studied for alterations in psychomotor development and/or congenital ophthalmological or hearing disorders. The overall morbidity rate was 34.2% and death rate 15.7%. The detection of other ultrasound alterations and the alteration in the first trimester screening were significantly associated with the presence of pathology. CONCLUSIONS: IFPE has been classically associated with a good prognosis, although it is sometimes related to clinical entities with high morbidity and mortality: more than a third of the patients in our sample are affected. An exhaustive pre and postnatal follow-up of these cases is recommended in order to perform an early intervention.

Seguimiento del derrame pericárdico fetal aislado: ¿debemos preocuparnos? / Isolated fetal pericardial effusion follow-up: Should we worry?

Introducción y objetivos: El derrame pericárdico fetal aparece en diferentes enfermedades como hidropesía fetal, alteraciones estructurales o del ritmo cardiaco, aunque puede observarse de manera aislada. Se ha observado un incremento de su incidencia con relación a la presencia de enfermedades graves. Métodos: Análisis de la totalidad de casos de derrame pericárdico fetal aislado (DPFA) detectados en Aragón y valorados en consulta cardiológica de diagnóstico prenatal de un hospital terciario recogidos durante 10años, así como la evolución de los pacientes hasta la actualidad. Resultados: Se obtuvo una muestra de 38 fetos en 37 gestantes diagnosticados de DPFA con resolución espontánea en el 86,8%. Se registraron 2abortos (interrupciones voluntarias tras diagnóstico prenatal de deleción 22q13 y de primoinfección por citomegalovirus) y una muerte fetal espontánea. Se objetivaron alteraciones patológicas en 10/38 recién nacidos: 2pacientes con metabolopatía, 2pacientes con cromosomopatía, un paciente con hipoplasia pulmonar e hidronefrosis unilateral, un paciente con miocardiopatía hipertrófica y 4pacientes estudiados por alteraciones del desarrollo psicomotor o alteraciones congénitas oftalmológicas o auditivas. La tasa de morbilidad fue del 34,2% y de fallecimiento del 15,7%. La detección de otras alteraciones ecográficas y la alteración en el cribado del primer trimestre se asociaron de forma significativa con la presencia de patología. Conclusiones: El DPFA se ha asociado clásicamente a buen pronóstico, aunque en ocasiones se relaciona con entidades clínicas con elevada morbimortalidad: más de un tercio de los pacientes en nuestra muestra. Se recomienda un seguimiento estrecho pre y posnatal de estos casos para poder realizar una intervención precoz. (AU)

Introduction and objectives: Fetal pericardial effusion appears in different pathologies such as hydrops fetalis, heart structural or rhythm alterations, however, it can be observed in isolation but an increase in its incidence has been observed in relation to the presence of severe pathologies. Methods: Analysis of all cases of IFPE detected in Aragon and assessed in a cardiological consultation for prenatal diagnosis of a tertiary hospital collected over 10years, as well as the evolution of the patients to the present. Results: A sample of 38 fetuses was obtained from 37 pregnant women diagnosed with DPFA with spontaneous resolution in 86.8%. Two abortions (voluntary interruptions after prenatal diagnosis of 22q13 deletion and primary infection by cytomegalovirus) and one spontaneous fetal death were recorded. Pathological alterations were observed in 10/38 newborns: 2patients with metabolic disease, 2patients with chromosomopathies, one patient with pulmonary hypoplasia and unilateral hydronephrosis, one patient with hypertrophic cardiomyopathy, and 4patients studied for alterations in psychomotor development and/or congenital ophthalmological or hearing disorders. The overall morbidity rate was 34.2% and death rate 15.7%. The detection of other ultrasound alterations and the alteration in the first trimester screening were significantly associated with the presence of pathology. Conclusions: IFPE has been classically associated with a good prognosis, although it is sometimes related to clinical entities with high morbidity and mortality: more than a third of the patients in our sample are affected. An exhaustive pre- and posnatal follow-up of these cases is recommended in order to perform an early intervention. (AU)

Evaluation of liver function tests in the paediatric patient.

INTRODUCTION: Although changes in liver function tests can be non-specific in numerous clinical conditions, they can be the first sign of a potentially serious disease in an asymptomatic patient. MATERIAL AND METHODS: Retrospective cohort study, performed by reviewing the records of children of a reference hospital central laboratory with alanine aminotransferase enzyme (ALT) elevation during a 6-month aleatory period. RESULTS: 572 blood tests with serum ALT elevation corresponding to 403 patients have been assessed during the period studied. 98 patients were excluded for presenting abnormal liver test before the study period of comorbidity that could produce ALT elevation. The remaining 305 patients, 22.6% were diagnosed with a medical condition during the first blood test that explained the ALT elevation, although only 33.3% of them were followed up until verifying their normalisation. Final study sample consists of 236 patients with abnormal liver test without apparent liver disease. Adequate follow-up was found only in 29% of them. From this group, 9 patients (13%) were diagnosed with liver disease. The rest of the samples were not properly monitored. In patients with higher serum ALT levels, follow-up was early and more appropriate. CONCLUSIONS: In our area, most children without apparent liver disease are no properly monitored. Therefore, an opportunity to diagnosis and treat a potential liver disease was lost in a great number of children. All children with unexplained hypertransaminasaemia must be studied.

Evaluación del seguimiento de niños con hallazgo de hipertransaminasemia / Evaluation of liver function tests in the paediatric patient

Introducción: Las alteraciones del perfil hepático constituyen un hecho inespecífico propio de numerosas condiciones clínicas. Sin embargo, puede implicar la primera manifestación de una patología potencialmente grave en un paciente asintomático.Material y métodos: Estudio observacional retrospectivo que incluye todas las analíticas sanguíneas con elevación de alanino aminotransferasa (ALT) en pacientes pediátricos solicitadas en un sector sanitario en un período de 6meses.Resultados: Se registraron 572 analíticas correspondientes a 403 pacientes. Se excluyeron 98 pacientes con hipertransaminasemia ya conocida o comorbilidad. De los 305 restantes, el 22,6% se diagnosticaron de patología asociada a hipertransaminasemia, y de estos, se comprobó normalización en el 33,3%. De los 236 pacientes con hipertransaminasemia sin justificar se realizó un seguimiento en el 29%, encontrando patología hepática en 9pacientes (13% del grupo). En el resto de la muestra no se comprobó analíticamente la evolución de las transaminasas ni la presencia de posible patología hepática. Los pacientes con cifras más elevadas se controlan mejor y antes que los que presentan cifras más bajas.Conclusiones: En nuestra área, la mayoría de los niños sin enfermedad hepática aparente con hallazgo de ALT elevada no son adecuadamente controlados. Esto hace que se pierda una oportunidad única de diagnosticar y tratar precozmente una enfermedad hepática potencial en un gran número de niños. Todo niño con hipertransaminasemia inexplicada debe ser estudiado. (AU)

Introduction: Although changes in liver function tests can be non-specific in numerous clinical conditions, they can be the first sign of a potentially serious disease in an asymptomatic patient.Material and methods: Retrospective cohort study, performed by reviewing the records of children of a reference hospital central laboratory with alanine aminorransferase enzyme (ALT) elevation during a 6 month aleatory period.Results: 572 blood tests with serum ALT elevation corresponding to 403 patients had been assessed during the period studied. 98 patients were excluded for presenting abnormal liver test before the study period of comorbidity that could produce ALT elevation. The remaining 305 patients, 22.6% were diagnosed with a medical condition during the first blood test that explained the ALT elevation, although only 33.3% of them were followed up until verifying their normalization. Final study sample consists of 236 patients with abnormal liver test without apparent liver disease. Adequate follow-up was found only in 29% of them. From this group, 9 patients (13%) were diagnosed with liver disease. The rest of the sample were not properly monitored. In patients with higher serum ALT levels, follow-up was early and more appropiate.Conclusions: In our area, most children without apparent liver disease are no properly monitored. Therefore, an opportunity to diagnosis and treat a potential liver disease was lost in a great number of children. All children with unexplainedhypertransaminasaemia must be studied. (AU)

[Isolated fetal pericardial effusion follow-up: Should we worry?] / Seguimiento del derrame pericárdico fetal aislado: ¿debemos preocuparnos?

INTRODUCTION AND OBJECTIVES: Fetal pericardial effusion appears in different pathologies such as hydrops fetalis, heart structural or rhythm alterations, however, it can be observed in isolation but an increase in its incidence has been observed in relation to the presence of severe pathologies. METHODS: Analysis of all cases of IFPE detected in Aragon and assessed in a cardiological consultation for prenatal diagnosis of a tertiary hospital collected over 10years, as well as the evolution of the patients to the present. RESULTS: A sample of 38 fetuses was obtained from 37 pregnant women diagnosed with DPFA with spontaneous resolution in 86.8%. Two abortions (voluntary interruptions after prenatal diagnosis of 22q13 deletion and primary infection by cytomegalovirus) and one spontaneous fetal death were recorded. Pathological alterations were observed in 10/38 newborns: 2patients with metabolic disease, 2patients with chromosomopathies, one patient with pulmonary hypoplasia and unilateral hydronephrosis, one patient with hypertrophic cardiomyopathy, and 4patients studied for alterations in psychomotor development and/or congenital ophthalmological or hearing disorders. The overall morbidity rate was 34.2% and death rate 15.7%. The detection of other ultrasound alterations and the alteration in the first trimester screening were significantly associated with the presence of pathology. CONCLUSIONS: IFPE has been classically associated with a good prognosis, although it is sometimes related to clinical entities with high morbidity and mortality: more than a third of the patients in our sample are affected. An exhaustive pre- and posnatal follow-up of these cases is recommended in order to perform an early intervention.

HiperCKemia persistente asintomática en edad pediátrica. Diagnóstico de miopatía central core sin biopsia muscular / Asymptomatic hyperCKemia in children. Central core disease with non-diagnostic muscle biopsy

INTRODUCCIÓN: la elevación persistente de creatinfosfoquinasa (CK) puede constituir la primera manifestación de una patología muscular subyacente. Su correcto abordaje permite un adecuado tratamiento precoz, asesoramiento familiar e información sobre su pronóstico y sus complicaciones. CASO CLÍNICO: niño de siete años, asintomático, con elevación de CK como hallazgo casual en una analítica de rutina, persistiendo en controles seriados. Exploración física normal. Tras un estudio metabólico completo normal, se solicita estudio genético dirigido a descartar distrofinopatías u otras miopatías. Se observa una mutación en el gen RYR1, c.9912C>A; p. (Cys3304*), variante probablemente patogénica compatible con miopatía congénita de cores centrales (#MIM11700). Ante un diagnóstico genético en paciente asintomático, se evita la realización de otras técnicas invasivas. CONCLUSIONES: la miopatía congénita de cores centrales es la patología neuromuscular congénita más frecuente. Se relaciona con la presencia de mutaciones en el gen RYR1 (90% de los pacientes). Pertenece a la familia de los canales liberadores de calcio iónico, cuyo papel es fundamental en el fenómeno de acoplamiento excitación-contracción muscular. Su diagnóstico clásico era la biopsia muscular. Está asociado a complicaciones como hipertermia maligna o rabdomiolisis

INTRODUCTION: persistently elevated serum creatine kinase levels may lean the first manifestation of an underlying neuromuscular disease. Its appropriate approach allows an adequate early treatment, a genetic counselling and information concerning complications and prognosis. CASE DESCRIPTION: our patient was an asymptomatic 7-year-old boy with persistent serum CK elevation. He had a normal physical examination. After a normal metabolic study, a specific genetic study for dystrophinopaties or other myopathies was requested. A variant of uncertain significance mutation [RYR1, c.9912C>A; p. (Cys3304*)] associated with central core disease (#MIM11700) was obtained. Before this genetic diagnosis the invasive testing was rejected. DISCUSSION: central core disease is the most frequent congenital neuromuscular disease. About 90% of cases are linked to RYR1 gene mutations. RYR1 protein is a part of macromolecular complex deputed to excitation-contraction coupling through Ca2+ channels. Its diagnosis is confirmed by histological examination. CCD is associated to malignant hyperthermia and rabdomiolisis susceptibility

Bronquitis bacteriana persistente, una entidad a considerar en pediatría / Protracted bacterial bronchitis; a condition to be considered in children

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Episodio de hipotonía e hiporrespuesta en el lactante / Hypotonic-hyporesponsive episode in early childhood

Se conoce como episodio de hipotonía-hiporrespuesta a un evento adverso de baja frecuencia de la vacunación infantil predominantemente del componente antitosferina. Es caracterizado por una pérdida súbita del tono muscular asociada a hiporreactividad a estímulos y a cambios en la coloración de la piel (palidez cutánea o cianosis). Debido a que es una entidad poco conocida, secundaria a mecanismos fisiopatológicos desconocidos y con diagnóstico por exclusión, adquiere una mayor importancia el conocimiento por el profesional sanitario de este evento, para elaborar un adecuado diagnóstico diferencial de episodios colapsiformes, evitar pruebas o medidas innecesarias y prevenir el miedo poblacional a las vacunas

Hypotonic-hyporesponsive episode is known as a rare vaccine adverse event in early childhood, mainly associated with antipertussis component. It is characterized by a sudden onset of reduced muscle tone, hyporesponsiveness and change of skin color (paleness or cyanosis). Because of being a little-known event with unknown pathophysiological mechanisms and a diagnosis by exclusion, its knowledge by the health professional takes on even greater importance for making an adequate differential diagnosis, avoiding unnecessary tests and preventing fear of vaccination in the society