Defecto congénito de pericardio: a propósito de tres casos / Congenital pericardial defects: a report of three cases

Introducción: La atrofia prematura de la vena cardinal común producirá defectos en el pericardio y, a veces, también pleurales. Esos defectos pericárdicos pueden ser asintomáticos o, por el contrario, producir dolor inespecífico, dolor anginoso, isquemia miocárdica, embolias, arritmias y muerte súbita. Las pautas de actuación varían, desde la corrección quirúrgica de todo defecto a una actitud expectante.Casos clínicos: Presentamos tres casos de defecto congénito de pericardio, dos de ellos correspondientes a dos niñas lactantes de 3 y 11 meses respectivamente, en cuya radiografía de tórax se observó una alteración compatible con un defecto parcial de pericardio, confirmado con posteriores exámenes (ecocardiograma, angiocardiografía, resonancia magnética nuclear). El tercer caso se diagnosticó durante el transcurso de una intervención quirúrgica de ductus permeable, en la que pudo visualizarse directamente la ausencia de pericardio.Discusión: El interés de nuestros casos radica en la posibilidad de establecer un diagnóstico de presunción mediante la radiografía simple (en dos de ellos). Se concluye destacando la importancia de tener un alto índice de sospecha de anomalía congénita por el riesgo vital que comportan ciertos defectos parciales de pericardio ante la posibilidad de herniación ventricular

Introduction: Premature atrophy of the left common cardinal vein results in pericardial and pleuropericardial defects. Patients with these congenital defects can be entirely asymptomatic, but they may experience vague chest pain, angina, myocardial ischemia, emboli, dysrhythmia and sudden death. Practical guidelines suggest different approaches, from expectant management to surgical correction of the defects.Patients and method: We report three cases of this congenital entity. Two involved three-month-old and eleven-month-old girls with asymptomatic pericardial defects, discovered incidentally on chest X-ray and later confirmed by other techniques (echocardiography, angiocardiography, magnetic resonance imaging). The third case was diagnosed during surgical repair of a patent ductus in which the absence of pericardium was observed.Discussion: We highlight the fact that, in two of our cases, it was possible to establish a presumptive diagnosis on the basis of plain chest radiography. We conclude by stressing the importance of maintaining a high degree of suspicion for this congenital anomaly because of the life-threatening risk associated with certain partial pericardial defects should they result in ventricular herniation

[Expansile cyst, twin formation and possible parasagittal cerebral injury]. / Quiste insuflante, gemelaridad y posible daño cerebral parasagital.

INTRODUCTION: Prenatal intracranial anomalies of a cystic nature are mainly either malformations (arachnoid cysts) or disruptive (porencephaly). They are usually incidental findings and, unless they undergo a progressive increase in size and become expansile or offer clinical features, they are usually managed 'expectantly'. Disruptive defects are more frequent in twin pregnancies. CASE REPORT: A one and a half-month-old male patient, fruit of a bichorial twin pregnancy, with bouts of paleness, cyanosis around the mouth and movements of the mouth that initially responded to treatment with valproate. Physical exploration was normal except for a significant increase in the cephalic perimeter. A notable anaemia was observed and neuroimaging revealed a left temporal intraparenchymatous cystic lesion; in addition, magnetic resonance imaging showed alterations in the linear and symmetrical signals in the parasagittal region. At three months the seizures reappeared and the cyst had increased in size, which led to the implantation of a cyst peritoneal shunt. The seizures ceased and the size of the cyst became stable, without full re expansion of the brain tissue. DISCUSSION: It is necessary to carry out a differential diagnosis of an arachnoid cyst and porencephaly. Given the history of being a twin, the notable degree of anaemia at the age of one month and the image suggesting parasagittal cerebral injury (a pattern of hypoxic ischemic encephalopathy in the full term neonate), we think that our patient was suffering from antenatal or perinatal cerebrovascular damage, which conditioned the development of an expansile porencephalic cyst and cortical damage that accounted for the symptoms of epilepsy.

Quiste insuflante, gemelaridad y posible daño cerebral parasagital / Expansile cyst, twin formation and possible parasagittal cerebral injury

Introducción. Los defectos prenatales intracraneales de naturaleza quística pueden ser, principalmente, de tipo malformativo (quistes aracnoideos) o disruptivo (porencefalia). Suelen ser hallazgos casuales y, a no ser que aumenten progresivamente de tamaño y adquieran carácter insuflante, o produzcan manifestaciones clínicas, la conducta es habitualmente expectante. Los defectos disruptivos son más frecuentes en los embarazos gemelares. Caso clínico. Varón de mes y medio, fruto de un embarazo gemelar bicorial, con episodios de palidez, cianosis peribucal y movimientos bucales que respondieron inicialmente al tratamiento con valproato. La exploración física fue normal, salvo por un aumento significativo del perímetro cefálico. Se evidenció una anemia marcada y , en la neuroimagen, una lesión quística intra parenquimatosa temporal izquierda; además, en la resonancia magnética aparecieron alteraciones de señal lineales y simétricas en la región parasagital. A los tres meses reaparecieron las crisis yse evidenció un aumento del tamaño del quiste, por lo que se colocó una derivación cistoperitoneal. Cedieron las crisis y se estabilizó el tamaño del quiste, sin una reexpansión total del tejido cerebral. Discusión. Se plantea el diagnóstico diferencial entre quiste aracnoideo y por encefalia. Dados el antecedente de gemelaridad, la anemia significativa al mes de vida y la imagen sugestiva de daño cerebral parasagital (patrón de encefalopatía hipoxicoisquémica del recién nacido a término), pensamos que nuestro paciente sufrió un daño cerebrovascular perinatal antenatal, que condicionó el desarrollo de un quiste porencefálico insuflante y un daño cortical responsable de la epilepsia sintomática (AU)

Introduction. Prenatal intracranial anomalies of a cystic nature are mainly either malformations (arachnoid cysts) or disruptive (porencephaly). They are usually incidental findings and, unless they undergo a progressive increase in size and become expansile or offer clinical features, they are usually managed ‘expectantly’. Disruptive defects are more frequent in twin pregnancies. Case report. A one and a half-month-old male patient, fruit of a bichorial twin pregnancy, with bouts of paleness, cyanosis around the mouth and movements of the mouth that initially responded to treatment with valproate. Physical exploration was normal except for a significant increase in the cephalic perimeter. A notable anaemia was observed and neuroimaging revealed a left temporal intraparenchymatous cystic lesion; in addition, magnetic resonance imaging showed alterations in the linear and symmetrical signals in the parasagittal region. At three months the seizures reappeared and the cyst had increased in size, which led to the implantation of a cyst-peritoneal shunt. The seizures ceased and the size of the cyst became stable, without full re-expansion of the brain tissue. Discussion. It is necessary to carry out a differential diagnosis of an arachnoid cyst and porencephaly. Given the history of being a twin, the notable degree of anaemia at the age of one month and the image suggesting parasagittal cerebral injury (a pattern of hypoxic-ischemic encephalopathy in the full-term neonate), we think that our patient was suffering from antenatal or perinatal cerebrovascular damage, which conditioned the development of an expansile porencephalic cyst and cortical damage that accounted for the symptoms of epilepsy (AU)

[Microcephalus as the reason for visiting a regional referral neuropaediatric service]. / Microcefalia como motivo de consulta en un Servicio de Neuropediatría de referencia regional.

INTRODUCTION: The first contact between the patient and clinician takes place when the former visits because of some health problem. PATIENTS AND METHODS: We carried out a review of the clinical records of children who had visited the Neuropaediatric Service because of, among other reasons, an isolated or associated microcephalus over a period of 12 years and 9 months. Factors that were considered included whether or not there was a cephalic perimeter below p3 and evidence of encephalopathy, as well as its prenatal, perinatal or postnatal origin, functional diagnoses and the aetiological diagnosis. RESULTS: In 58 cases (0.92%) out of a total number of 6257 children the visit was due to microcephalus. The mean age at the last visit was 3.9 years. In five children (8.6%) the cephalic perimeter was not below p3. No encephalopathy was found in 20 patients (34.4%) and 38 (65.5%) were seen to have encephalopathy, 37 with a prenatal origin: nine genetic, three disruptive and 22 unspecified. Functional diagnoses were as follows: mental retardation in 29 patients, infantile cerebral palsy in 18, autistic spectrum in four and epilepsy in four. Neuroimaging studies aided diagnosis in 13 cases, i.e. 43.3% of those carried out. CONCLUSIONS: Visits to the doctor because of microcephalus, as well as in normal children, include the whole range of prenatal encephalopathies and are associated, ordered according to the frequency of occurrence, with mental retardation and with infantile cerebral palsy. Individual evaluation and clinical progression allow the orientation of each case. Neuroimaging is the most useful complementary examination for diagnostic purposes.

Microcefalia como motivo de consulta en un Servicio de Neuropediatría de referencia regional / Microcephalus as the reason for visiting a regional referral neuropaediatric service

Introducción. El primer contacto entre paciente y médico se establece mediante la consulta de un problema. Pacientes y métodos. Se han revisado las historias clínicas de los niños valorados en el Servicio de Neuropediatría durante un período de 12 años y 9 meses, entre cuyos motivos de consulta, aislado o asociado a otros, figuraba la microcefalia. Se ha considerado la existencia o no de un perímetro cefálico por debajo del p3 y la evidencia o no de encefalopatía, y su origen prenatal, perinatal o posnatal, los diagnósticos funcionales y el diagnóstico etiológico. Resultados. De 6.257 niños, 58 (0,92 por ciento) consultaron por microcefalia. La edad media en el momento de la última consulta fue de 3,9 años. En cinco niños (8,6 por ciento) el perímetro cefálico no estaba por debajo del p3. En 20 pacientes (34,4 por ciento) no se evidenció encefalopatía, y en 38 (65,5 por ciento) sí se consideró encefalopatía, en 37 de origen prenatal: nueve genéticas, tres disruptivas y 22 sin especificar. Los diagnósticos funcionales fueron: retraso mental en 29 pacientes, parálisis cerebral infantil en 18, espectro autista en cuatro y epilepsia en cuatro. La neuroimagen ha contribuido al diagnóstico en 13 casos, el 43,3 por ciento de los que se han realizado. Conclusiones. La consulta por microcefalia, además de incluir a niños normales, comprende todo el espectro de encefalopatías prenatales, y se asocia, por orden de frecuencia, a retraso mental y a parálisis cerebral infantil. La valoración y la evolución clínica permite orientar cada caso. La neuroimagen es el examen complementario de mayor rentabilidad diagnóstica (AU)

Introduction. The first contact between the patient and clinician takes place when the former visits because of some health problem. Patients and methods. We carried out a review of the clinical records of children who had visited the Neuropaediatric Service because of, among other reasons, an isolated or associated microcephalus over a period of 12 years and 9 months. Factors that were considered included whether or not there was a cephalic perimeter below p3 and evidence of encephalopathy, as well as its prenatal, perinatal or postnatal origin, functional diagnoses and the aetiological diagnosis. Results. In 58 cases (0.92%) out of a total number of 6257 children the visit was due to microcephalus. The mean age at the last visit was 3.9 years. In five children (8.6%) the cephalic perimeter was not below p3. No encephalopathy was found in 20 patients (34.4%) and 38 (65.5%) were seen to have encephalopathy, 37 with a prenatal origin: nine genetic, three disruptive and 22 unspecified. Functional diagnoses were as follows: mental retardation in 29 patients, infantile cerebral palsy in 18, autistic spectrum in four and epilepsy in four. Neuroimaging studies aided diagnosis in 13 cases, i.e. 43.3% of those carried out. Conclusions. Visits to the doctor because of microcephalus, as well as in normal children, include the whole range of prenatal encephalopathies and are associated, ordered according to the frequency of occurrence, with mental retardation and with infantile cerebral palsy. Individual evaluation and clinical progression allow the orientation of each case. Neuroimaging is the most useful complementary examination for diagnostic purposes (AU)

[Severe fulminant form of neonatal citrullinemia. Report of a case]. / Forma grave fulminante de citrulinemia neonatal. Comunicación de un caso.

INTRODUCTION: Citrullinemia is an autosomal recessive disease, which is caused by a deficiency of the argininosuccinate synthetase. The neonatal forms are serious and many times are associated with a high level of mortality. CASE REPORT: A newborn that came in again on her third day of life due to a apneic episodes which required mechanical ventilation. Previously, she rejected feeding, had poor suction, lethargy and remarkable hypoactivity. During the following hours, she showed serious neurologycal deterioration with multifocal convulsions and coma, passing away 20 hours after admission due to endocraneal hypertension. The metabolic evaluation confirmed very significant hyperammonemia, with important increase of citrullin and glutamin, and arginine in the low limits of normality. She was treated with sodium benzoate and arginine and she also needed exanguinotransfusion. It was not possible to put her on hemodyalisis. The findings of the autopsy confirmed massive cerebral edema and characteristic hystological changes in the liver. The determination of the enzymatical activity in liver tissue showed a partial deficiency, with a residual activity of 25% of the average control. CONCLUSIONS: This is a case of fulminant neonatal citrullinemia that we considered of interest in order to draw the attention of the clinical on this type of diseases. The prognosis depends on early diagnosis, witch is based on clinical suspicion and analytical determination of ammonia in every newborn with unexplained vomiting, lethargy or other symptoms of encephalopathy.

Forma grave fulminante de citrulinemia neonatal. Comunicación de un caso / Severe fulminant form of neonatal citrullinemia. Report of a case

Introducción. La citrulinemia es una afección autosómica recesiva, debida a una deficiencia de la argininsuccinato sintetasa (ASS); las formas neonatales son graves y se asocian a un alto índice de mortalidad. Caso clínico. Recién nacida que reingresa al tercer día de vida por episodios apneicos, que requirieron intubación y ventilación mecánica. Previamente, presentó rechazo de las tomas, mala succión, letargia e hipoactividad marcada. En las horas siguientes presentó grave deterioro neurológico, con convulsiones multifocales y coma; falleció a las 20 horas de su ingreso por un cuadro de hipertensión endocraneal. La evaluación metabólica confirmó una hiperamonemia muy significativa, con importante aumento de citrulina y glutamina, adsí como arginina en los límites bajos de la normalidad. Se trató con benzoato sódico y arginina, y se le realizó una exanguinotransfusión de doble volumen; no fue posible practicarle hemodiálisis. Los hallazgos de la autopsia confirmaron un edema cerebral masivo y cambios histológicos característicos en el hígado. La medida de la actividad enzimática en el tejido hepático reveló una deficiencia parcial, con una actividad residual del 25 por ciento de la media control. Conclusión. Se trata de una observación de citrulinemia neonatal de curso fulminante que consideramos de interés, con la finalidad de alertar al clínico sobre este tipo de patología, ya que el pronóstico se va a relacionar con el diagnóstico precoz, basado en la sospecha clínica y determinación del amonio en todo recién nacido con vómitos inexplicables, letargia u otros signos de encefalopatía (AU)

Introduction. Citrullinemia is an autosomal recessive disease, which is caused by a deficiency of the argininosuccinate synthetase. The neonatal forms are serious and many times are associated with a high level of mortality. Case report. A newborn that came in again on her third day of life due to a apneic episodes which required mechanical ventilation. Previously, she rejected feeding, had poor suction, lethargy and remarkable hypoactivity. During the following hours, she showed serious neurologycal deterioration with multifocal convulsions and coma, passing away 20 hours after admission due to endocraneal hypertension. The metabolic evaluation confirmed very significant hyperammonemia, with important increase of citrullin and glutamin, and arginine in the low limits of normality. She was treated with sodium benzoate and arginine and she also needed exanguinotransfusion. It was not possible to put her on hemodyalisis. The findings of the autopsy confirmed massive cerebral edema and characteristic hystological changes in the liver. The determination of the enzymatical activity in liver tissue showed a partial deficiency, with a residual activity of 25% of the average control. Conclusions. This is a case of fulminant neonatal citrullinemia that we considered of interest in order to draw the attention of the clinical on this type of diseases. The prognosis depends on early diagnosis, witch is based on clinical suspicion and analytical determination of ammonia in every newborn with unexplained vomiting, lethargy or other symptoms of encephalopathy (AU)

[Pericardial defect with atrial herniation]. / Defecto pericárdico con herniación auricular.

Pericardial defects are rare in childhood and outcome is usually benign. Patients can be asymptomatic, but they may experience vague chest pain, angina, myocardial ischemia, emboli, and arrhythmia and some cases of sudden death have even been described in the literature. We report the case of a 3-month-old girl who, in the context of an episode of fever, underwent chest X-ray examination, which showed a left heart border anomaly. This finding strongly suggested a congenital partial pericardial defect, which was subsequently confirmed by other techniques. The interest of this case lies in the ability of the pediatrician to establish a presumptive diagnosis by examining the chest X-ray. We conclude by stressing the need for a high degree suspicion for congenital heart anomalies because of the life-threatening nature of some partial pericardial defects, which can lead to left-ventricular herniation.

Defecto pericárdico con herniación auricular / Pericardial defect with atrial herniation

Los defectos del pericardio constituyen una entidad poco común en pediatría con curso generalmente benigno. Los pacientes pueden estar asintomáticos, o presentar dolor inespecífico, dolor anginoso, isquemia miocárdica, embolias, arritmias e incluso se han descrito en la literatura médica casos de muerte súbita. Se presenta el caso de una niña lactante de 3 meses de edad, a quien, en el curso de un síndrome febril, se le realizó una radiografía de tórax, en la que se observó una alteración en el borde izquierdo de la silueta cardíaca. Dicho hallazgo era muy indicativo de un defecto parcial congénito de pericardio que fue confirmado con posteriores exámenes. El interés de nuestro caso radica en la posibilidad de establecer un diagnóstico de presunción por parte del pediatra al visualizar la radiografía de tórax. Se concluye destacando la importancia de tener un alto índice de sospecha de anomalía congénita por el riesgo vital que comportan ciertos defectos parciales de pericardio ante la posibilidad de herniación ventricular (AU)