[Neuroimaging in epileptic encephalopathies in infants]. / Neuroimagen en las encefalopatias epilepticas del lactante.

Magnetic resonance plays a vital role in the aetiological diagnosis of epileptic encephalopathies, since it is capable of identifying specific aetiological patterns or patterns which are suggestive of different conditions. We review the main magnetic resonance findings that are observed in symptomatic epileptic encephalopathies.

TITLE: Neuroimagen en las encefalopatias epilepticas del lactante.La resonancia magnetica desempeña un papel crucial en el diagnostico etiologico de las encefalopatias epilepticas, al poder identificar patrones etiologicamente especificos o sugestivos de diferentes entidades. Se revisan los principales hallazgos por resonancia magnetica que se objetivan en las encefalopatias epilepticas sintomaticas.

[Reversible alterations in the neuroimages associated with vigabatrine treatment in infants with epileptic spasms]. / Alteraciones reversibles en la neuroimagen asociadas al tratamiento con vigabatrina en lactantes con espasmos epilepticos.

INTRODUCTION: Vigabatrin (VGB) is a first-line drug for the treatment of infantile spasms. Recently, several reports claim the existence of abnormalities in magnetic resonance imaging (MRI) (particularly affecting basal ganglia, and visible in T2 and diffusion sequences) in infants with spasms that were receiving high doses of VGB (> 100 mg/kg/day), which appear to be reversible after withdrawal of treatment. CASE REPORTS: We present two cases with an epileptic encephalopathy in the first year of life and seizures consisting of infantile spasms. Both were treated with several antiepileptic drugs, including VGB up to a maximum dosage of 200 mg/kg/day. At the age of 11 and 28 months, respectively, MRI images showed marked signal hyperintensities on T2-sequences on bilateral globus pallidus, thalamus, posterior portion of the brainstem and dentate nuclei, also visible on diffusion sequences. Both had previous unaltered MRI studies. After excluding an underlying metabolic disease, VGB withdrawal is decided, appreciating the reversibility of those lesions in a prospective MRI study, three months later. CONCLUSIONS: We must consider and carefully evaluate findings on brain MRI in infants receiving VGB at high doses for treatment of spasms. The apparent cytotoxic effect on basal ganglia could simulate metabolic/mitochondrial diseases. By knowing this effect of VGB and its typical MRI features, unnecessary testing can be avoided in young infants with epileptic encephalopathies, including complex procedures like muscle biopsy or a new metabolic screening.

TITLE: Alteraciones reversibles en la neuroimagen asociadas al tratamiento con vigabatrina en lactantes con espasmos epilepticos.Introduccion. La vigabatrina (VGB) es un farmaco de primera linea para el tratamiento de espasmos infantiles. Diversos estudios han hallado anomalias en la resonancia magnetica (RM) cerebral, que afectaban particularmente a los ganglios de la base, y especialmente en secuencias de difusion, en lactantes con espasmos que recibian VGB en altas dosis (> 100 mg/kg/dia), y se ha observado la desaparicion de las lesiones tras la retirada de dicho tratamiento. Casos clinicos. Se presentan dos casos clinicos con inicio de una encefalopatia epileptica en el primer año de vida y crisis en forma de espasmos infantiles. Ambos recibieron tratamiento con distintos farmacos, entre ellos VGB hasta dosis de 200 mg/kg/dia. Con 11 y 28 meses de vida, respectivamente, aparecian imagenes en la RM cerebral con una marcada hiperintensidad de señal en secuencias ponderadas en T2 en ambos palidos, talamos, porcion posterior del tronco encefalico y nucleos dentados, que asociaban restriccion en secuencias de difusion. Ambos disponian de estudios previos de RM, sin alteraciones. Tras excluir una metabolopatia subyacente, se decidio la retirada de la VGB y tres meses despues, en una RM de control, se aprecio la total reversibilidad de dichas lesiones. Conclusiones. Deben evaluarse con cautela los hallazgos de la RM cerebral en lactantes que reciban VGB en altas dosis para el tratamiento de espasmos. Su aparente efecto citotoxico sobre los ganglios de la base podria simular metabolopatias/enfermedades mitocondriales. Conocer este efecto de la VGB y sus caracteristicas tipicas en la RM puede evitar pruebas innecesarias, como una biopsia muscular o un nuevo cribado metabolico.

All children with malignant rhabdoid tumors should be treated initially with intensive chemotherapy.

Malignant rhabdoid tumors (MRT) of soft tissues are aggressive tumors, which can be detected in almost any part of the body. MRT are rare, and very few cases have been reported in the literature. Prognosis of these tumors is extremely poor despite intensive therapy. Some risk factors such as young age or disseminated disease are associated with an aggressive and almost always lethal clinical course. Some clinicians even recommend initial palliative care due to this outcome. We report a case of metastatic MRT in a 6-month-old child with excellent initial response to chemotherapy.

Fibrosis quística en imágenes. Clasificación de Bhalla para la tomografía computarizada en pacientes pediátricos / Cystic fibrosis in images: the Bhalla scoring system for computed tomography in paediatric patients

Para el seguimiento de la evolución del daño pulmonar en los pacientes con fibrosis quística (FQ) se han desarrollado distintos sistemas de clasificación o puntuación mediante la radiografía de tórax y la tomografía computarizada de alta resolución (TCAR). La TCAR es una técnica más sensible que la radiografía de tórax para evaluar la anatomía, sin embargo, en pacientes pediátricos el uso de la tomografía computarizada (TC) debe reducirse al mínimo necesario y utilizar sistemas de protección radiológica y reducción de dosis. Uno de los sistemas de clasificación mediante TCAR más empleados es el propuesto por Bhalla en 1991, que facilita la evaluación de la gravedad y la evolución de estos pacientes en función de los distintos hallazgos radiológicos. Presentamos diferentes ejemplos de estos criterios para la TCAR, observados al revisar los estudios de un grupo de 48 pacientes (AU)

To monitor the course of lung damage in patients with cystic fibrosis (CF) using the different chest X-ray and high resolution computed tomography (HRCT) scoring systems that have been developed. The HRCT technique is more sensitive than chest radiography to evaluate the anatomy. However, in paediatric patients, the use of CT should be kept to a minimum, and guidelines for radiation protection and dose reduction should be applied. One of the most used classification systems for HRCT is the one proposed by Bhalla in 1991, which helps in the assessment of the severity and course of the disease in these patients depending on the different imaging findings. We present various examples of these criteria for HRCT, observed while reviewing a group of 48 paediatric patients (AU)

[Cystic fibrosis in images: the Bhalla scoring system for computed tomography in paediatric patients]. / Fibrosis quística en imágenes. Clasificación de Bhalla para la tomografía computarizada en pacientes pediátricos.

To monitor the course of lung damage in patients with cystic fibrosis (CF) using the different chest X-ray and high resolution computed tomography (HRCT) scoring systems that have been developed. The HRCT technique is more sensitive than chest radiography to evaluate the anatomy. However, in paediatric patients, the use of CT should be kept to a minimum, and guidelines for radiation protection and dose reduction should be applied. One of the most used classification systems for HRCT is the one proposed by Bhalla in 1991, which helps in the assessment of the severity and course of the disease in these patients depending on the different imaging findings. We present various examples of these criteria for HRCT, observed while reviewing a group of 48 paediatric patients.

Linfohistiocitosis hemofagocítica familiar: hallazgos neurorradiológicos / Familial hemophagocytic lymphohistiocytosis: neuroradiological findings

La linfohistiocitosis hemofagocítica (LHH) es un síndrome clínico raro, posiblemente infradiagnosticado, más frecuente en niños. Pueden ser cuadros agresivos y evolucionar en poco tiempo a fallo multiorgánico letal. Simula cuadros de sepsis infecciosa, aunque con peor respuesta y evolución. Se debe sospechar ante un niño pequeño con fiebre persistente de origen desconocido, afectación del estado general, hepatoesplenomegalia, citopenias, aumento de triglicéridos y ferritina y disminución del fibrinógeno. En la resonancia magnética cerebral se puede apreciar un realce difuso leptomeníngeo y perivascular, áreas parcheadas hiperintensas en T2 en sustancia blanca de ambos hemisferios cerebrales y atrofia cerebral. La secuencia de difusión es útil en la estadificación de las lesiones. Presentamos un caso clínico de LHH familiar de evolución mortal y realizamos una revisión bibliográfica de las características clínicas, anatomopatológicas y radiológicas de esta entidad (AU)

Hemophagocytic lymphohistiocytosis (HL) is a rare syndrome, although more common in children, that may be underdiagnosed. The clinical presentation can be aggressive, and patients may rapidly develop lethal multiple organ failure.…HL simulates the presentation of infectious sepsis, although the response to treatment and evolution are worse. HL should be suspected in young children with persistent fever of unknown origin, general malaise, hepatosplenomegaly, cytopenia, elevated triglycerides and ferritin, and decreased fibrinogen. Brain MRI shows diffuse leptomeningeal and perivascular enhancement, patchy areas of hyperintensity in the white matter of both cerebral hemispheres on T2-weighted sequences, and cerebral atrophy. Diffusion-weighted sequences are useful for staging the lesions. We present a fatal case of familial HL and review the literature about the clinical, histological, and radiological characteristics of this disease (AU)

[Familial hemophagocytic lymphohistiocytosis: Neuroradiological findings]. / Linfohistiocitosis hemofagocítica familiar: hallazgos neurorradiológicos.

Hemophagocytic lymphohistiocytosis (HL) is a rare syndrome, although more common in children, that may be underdiagnosed. The clinical presentation can be aggressive, and patients may rapidly develop lethal multiple organ failure....HL simulates the presentation of infectious sepsis, although the response to treatment and evolution are worse. HL should be suspected in young children with persistent fever of unknown origin, general malaise, hepatosplenomegaly, cytopenia, elevated triglycerides and ferritin, and decreased fibrinogen. Brain MRI shows diffuse leptomeningeal and perivascular enhancement, patchy areas of hyperintensity in the white matter of both cerebral hemispheres on T2-weighted sequences, and cerebral atrophy. Diffusion-weighted sequences are useful for staging the lesions. We present a fatal case of familial HL and review the literature about the clinical, histological, and radiological characteristics of this disease.

Tricobezoar gástrico en una niña diagnosticada de anorexia nerviosa purgativa / No disponible

El bezoar es una concreción de carácter variado, que puede encontrase en el estómago o intestino de hombre u otros animales. Los que se componen fundamentalmente por retos de pelos son los denominados tricobezoares. Esta entidad se observa fundamentalmente en menores de 30 años de edad y es más frecuente en las mujeres (9:1) y en personas con alteraciones del comportamiento alimentario. El propósito de este trabajo es documentar un caso de tricobezoar en una niña de 9 años que se presentó con síntomas inespecíficos que se confundieron con los de la anorexia nerviosa de la que previamente había sido diagnosticada (AU)

A bezoar is a collection of diverse aetiology that can be found in stomach or intestine of men or other animals. Those made basically of hair are called trichobezoar. This rare pathology is more usual in the group of age under 30 years old and also in women (9:1), basically if they associate eating disorders. Our objective was to relate a case of trichobezoar in a 9 year-old-girl, with non-specific sintomatology that was confounded with the clinic of anorexia nervosa, which she had been previously diagnosed (AU)