Utilidad de la calprotectina fecal en la enfermedad celiaca pediátrica / Usefulness of the faecal calprotectin on the pediatric coeliac disease

Introducción: El objetivo del presente estudio es analizar el comportamiento de la calprotectina fecal en los pacientes pediátricos con enfermedad celiaca, comparando sus niveles mientras recibían dieta con y sin gluten. También se han incluido en la comparación pacientes sanos y con diversas patologías digestivas no inflamatorias. Material y métodos: Se han recogido muestras de heces de pacientes celiacos con diagnóstico de novo (con gluten) y pacientes en seguimiento (sin gluten). Se incluyeron en el grupo control niños sanos sin patología digestiva y otros con diversos trastornos digestivos no diagnosticados de enfermedad inflamatoria intestinal. Resultados: La calprotectina fecal fue significativamente más alta en los pacientes celiacos que recibieron una dieta con gluten (119,2 ± 122,6 µg/g) que en los que recibieron una dieta sin gluten (21,5 ± 24,7 µg/g). Estos últimos presentaron valores similares al grupo control sano. Conclusiones: La calprotectina fecal está elevada en los pacientes celiacos con ingesta de gluten respecto a los celiacos con dieta sin gluten y los pacientes sanos. Este marcador podría usarse para la detección precoz de la ingesta de gluten (AU)

Introduction: The objective of the present research is to study the behavior of the faecal calprotectin in the pediatric coeliac disease, comparing its levels while receiving a diet with and without gluten. For the comparison, there were also included healthy children, and patients with diverse non-inflammatory digestive pathologies. Materials and methods: There have been collected stool samples from de novo coeliac patients (with gluten) and from follow-up coeliac patients (without gluten). As control groups, there were included healthy children without any digestive pathology and others with diverse digestive non-diagnosed disorders from the inflammatory bowel disease. Results: The faecal calprotectin was significantly higher in the coeliac patients with gluten (119.2 ± 122.6 µg/g) than in the patients with the gluten-free diet (21.5 ± 24.7 µg/g). The later showed similar values to those in the healthy control group. Conclusions: The faecal calprotectin is higher in the coeliac patients with gluten ingestion than in the coeliac patients with the gluten-free diet and in the healthy group. This could be used as a marker for early detection of gluten ingestion (AU)

Síndrome de Guillain-Barré: presentación clínica y evolución en menores de 6 años de edad / Guillain-Barré syndrome: clinical presentation and prognosis in children under six years-old

Introducción: El síndrome de Guillain-Barré (SGB) es una polineuropatía aguda de difícil diagnóstico en la primera infancia. Objetivos: Revisar la forma de presentación del SGB en niños menores de 6 años atendiendo al tiempo de evolución y sintomatología que presentaron hasta el diagnóstico, los hallazgos en las pruebas complementarias y la evolución y pronóstico. Pacientes y métodos: Revisamos a todos los pacientes menores de 6 años que cumplieran los criterios de Asbury et al para el diagnóstico de SGB. Resultados: Se incluyó a 8 pacientes, con una media de edad de 3,4 años. El 75% se registró la presencia de un agente infeccioso previo. La sintomatología previa al diagnóstico fue de carácter muy heterogéneo, lo que conllevó un amplio diagnóstico diferencial y multitud de exploraciones complementarias. El tiempo medio al diagnóstico fue de 8,5 días. El 100% presentó afectación motora de miembros inferiores, el 75% de miembros superiores y el 12% de musculatura respiratoria. La afectación sensitiva fue del 62,5% y la de pares craneales del 25%. Requirieron ingreso en cuidados intensivos un 25%. Se objetivó disociación albúmino-citológica en el líquido cefalorraquídeo (83,3%) y positividad de todos los estudios electrofisiológicos con distintos patrones. El pronóstico fue excelente en todos los pacientes. Conclusiones: El SGB en niños menores de 6 años es de difícil diagnóstico por la inespecificidad de las primeras manifestaciones en muchas ocasiones. Esto implica un amplio diagnóstico diferencial y retraso diagnóstico. Es relevante, el buen pronóstico en este grupo de edad de todos los subtipos electrofisiológicos(AU)

Introduction: Guillain-Barré syndrome (GBS) is an acute polyneuropathy that is difficult to diagnose in young children. Objectives: To review the form of presentation of GBS in children under six years-old at the time of onset and the symptoms they had until the diagnosis, the findings in the complementary tests, and the progression and prognosis. Patients and methods: All patients less than 6 years-old who fulfilled the Asbury et al criteria for the diagnosis of GBS were reviewed. Results: Eight patients with a mean age of 3.4years were included. Of those 75% recorded a previous infection. The symptoms prior to the diagnosis were very heterogeneous which entailed a wide differential diagnosis with many complementary examinations. The mean time to diagnosis was 8.5 days. All of them (100%) had motor involvement in the lower limbs, 75% in the upper limbs and 12% in the respiratory muscles. Sensory and cranial nerve involvement was observed in 62.5% and 25%, respectively. Admission to intensive care was required for 25% of the patients. Albumino-cytological dissociation was observed in the CSF in 83.3% and all the electrophysiological tests were positive with different patterns. The prognosis was excellent in all patients. Conclusions: GBS in children under 6 years-old is difficult to diagnosis due to the signs of onset often being unspecific. This entails a wide differential diagnosis, with the subsequent diagnostic delay. There is a good prognosis in all the electrophysiological sub-types in this age group(AU)

[Guillain-Barré syndrome: clinical presentation and prognosis in children under six years-old]. / Síndrome de Guillain-Barré: presentación clínica y evolución en menores de 6 años de edad.

INTRODUCTION: Guillain-Barré syndrome (GBS) is an acute polyneuropathy that is difficult to diagnose in young children. OBJECTIVES: To review the form of presentation of GBS in children under six years-old at the time of onset and the symptoms they had until the diagnosis, the findings in the complementary tests, and the progression and prognosis. PATIENTS AND METHODS: All patients less than 6 years-old who fulfilled the Asbury et al criteria for the diagnosis of GBS were reviewed. RESULTS: Eight patients with a mean age of 3.4 years were included. Of those 75% recorded a previous infection. The symptoms prior to the diagnosis were very heterogeneous which entailed a wide differential diagnosis with many complementary examinations. The mean time to diagnosis was 8.5 days. All of them (100%) had motor involvement in the lower limbs, 75% in the upper limbs and 12% in the respiratory muscles. Sensory and cranial nerve involvement was observed in 62.5% and 25%, respectively. Admission to intensive care was required for 25% of the patients. Albumino-cytological dissociation was observed in the CSF in 83.3% and all the electrophysiological tests were positive with different patterns. The prognosis was excellent in all patients. CONCLUSIONS: GBS in children under 6 years-old is difficult to diagnosis due to the signs of onset often being unspecific. This entails a wide differential diagnosis, with the subsequent diagnostic delay. There is a good prognosis in all the electrophysiological sub-types in this age group.

Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable / 15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity

Presentamos el caso de un niño con retraso psicomotor y rasgos dismórficos afectado de una microdeleción 15q11.2 de 1.5 Mb de origen paterno diagnosticada mediante array-based comparative genomic hybridization. La deleción está comprendida entre los puntos de rotura BP1-BP2 de la región crítica descrita para los síndromes Prader-Willi/Angelman. Comparamos las características clínicas de nuestro paciente con las halladas en los 10 casos de deleción puraBP1-BP2 descritos hasta la fecha (AU)

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by a CGH. The deletionis located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2deletion published to date (AU)

[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]. / Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable.

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.