Por fin responde a algo / Finally responds to something

La esofagitis eosinofílica es una enfermedad crónica inmunomediada cuya incidencia está aumentando a lo largo de los últimos años. Afecta preferentemente, pero no de manera exclusiva, a varones y a personas con antecedentes de atopia. Se estima que la prevalencia actual en los países desarrollados supera los 100 casos por cada 100 000 habitantes. Supone la causa más frecuente de disfagia e impactación alimentaria a lo largo de la edad pediátrica, y repercute negativamente sobre la calidad de vida. Afecta más a varones que a niñas. Su primer escalón terapéutico está constituido por: las dietas de exclusión, los inhibidores de la bomba de protones y los corticoides tópicos deglutidos. En casos refractarios, se puede emplear dupilumab, un biológico con capacidad anti-interleukina 4 y 13, con resultados muy prometedores. (AU)

Eosinophilic esophagitis is a chronic immune-mediated disease whose incidence has been increasing in recent years. It preferentially, but not exclusively, affects men and people with a history of atopy. It is estimated that the current prevalence in developed countries exceeds 100 cases per 100,000 inhabitants. It is the most common cause of dysphagia and food impaction throughout the pediatric age, and has a negative impact on quality of life. It affects boys more than girls. Its first therapeutic step consists of: exclusion diets, proton pump inhibitors and swallowed topical corticosteroids. In refractory cases, dupilumab, a biologic with anti-interleukin 4 and 13 capacity, can be used with very promising results. (AU)

Proton Pump Inhibitor Therapy in Pediatric Eosinophilic Esophagitis: Predictive Factors and Long-Term Step-Down Efficacy.

OBJECTIVES: To assess the short- and long-term efficacy of proton pump inhibitor (PPI) therapy for pediatric eosinophilic esophagitis (EoE) in real-world practice with a step-down strategy, and to evaluate factors predictive of PPI responsiveness. METHODS: We collected data regarding the efficacy of PPIs during this cross-sectional analysis of the prospective nationwide RENESE registry. Children with EoE treated with PPI monotherapy were included. Histological remission was defined as a peak eosinophilic count of <15 eosinophils (eos)/high-power field (hpf). Factors associated with PPI responsiveness were identified using multivariate logistic regression analysis. RESULTS: After induction therapy, histological and clinico-histological remission were observed in 51.4% (n = 346) and 46.5% of children, respectively. Normal endoscopic appearance of the esophagus was associated with a higher possibility [odds ratio (OR), 9.20; 95% confidence interval (CI), 2.10-40.16], and fibrostenotic phenotype was associated with a lower possibility (OR, 0.36; 95% CI, 0.18-0.74) of histological remission. Long-term therapy with a step-down strategy effectively maintained histological remission in 68.5% and 85.3% of children at 7 months (n = 108) and 16 months (n = 34), respectively. Complete initial histological remission (≤5 eos/hpf) was associated with a higher possibility of sustained histological remission (OR, 5.08; 95% CI, 1.75-14.68). Adverse events were infrequent and mild. CONCLUSIONS: We confirmed the efficacy of PPIs for a large cohort of children with EoE with sustained histological remission using a step-down strategy. Children with fibrostenotic phenotypes are less likely to respond to induction therapy. Furthermore, patients with complete initial histological remission are more likely to experience long-term histological remission.

¿Sin salida? / No exit?

El síndrome de obstrucción intestinal distal (SOID) es una complicación digestiva propia de los pacientes con fibrosis quística. Se caracteriza por la acumulación de materia fecal viscosa y secreciones espesas. Afecta a íleon distal, ciego o colon ascendente. Puede derivar en la aparición de obstrucción intestinal total o parcial. Para su tratamiento, se aconseja administrar polietilenglicol oral o a través de una sonda nasogástrica. La cirugía se reserva para los casos refractarios (AU)

Distal intestinal obstruction syndrome (SOID) is a digestive complication specific of patients with cystic fibrosis, characterized by the accumulation of viscous fecal matter and thick secretions. It can lead to the appearance of total or partial intestinal obstruction, affecting the distal ileum, cecum, or ascending colon. For its treatment, it is suggested the administration of oral polyethylene glycol or through a nasogastric tube. Surgery is reserved for refractory cases. (AU)

Ictericia en el lactante: más allá de la atresia de vías biliares / Jaundice in infants: beyond biliary atresia

La colestasis es una entidad que se define por la elevación de bilirrubina conjugada sérica (más de 2 mg/dl o más del 20% del total) y que suele acompañarse de clínica de ictericia, coluria y acolia/hipocolia. Existen múltiples entidades causantes de tal cuadro, pero en el caso de la colestasis neonatal, es fundamental descartar con urgencia la atresia de vías biliares extrahepáticas (AVBE), ya que precisa una intervención quirúrgica de derivación de flujo biliar de forma temprana por sus implicaciones pronósticas futuras. Ante una colestasis neonatal en la que se ha descartado la AVBE, el diagnóstico diferencial se realizará en función de la evaluación de distintos factores, tales como la cifra de gamma-glutamil transferasa (GGT), el valor de los ácidos biliares, si hay o no sospecha de enfermedad metabólica o por la presencia de otras anomalías asociadas. (AU)

Cholestasis is a condition defined by elevated direct bilirubin serum levels (>2 mg/dl or >20% of total bilirubin) and is usually accompanied by jaundice, dark urine, and acholia. Many diseases that cause this condition, but in the case of neonatal cholestasis, it is essential to rule out extrahepatic bile duct atresia (EBVA) on an urgent basis, since it requires early surgical intervention to divert bile flow due to its impact on future outcomes. In the presence of neonatal cholestasis in which EBVA has been ruled out, the differential diagnosis is based on the evaluation of different factors, such as gamma-glutamyl transferase (GGT) and bile acid levels, the suspicion of metabolic disease or the presence of other associated abnormalities. (AU)

Duodenitis, la gran desconocida / Duodenitis, the great unknown

Debido a la relación que mantiene el duodeno con el resto de los órganos vecinos, el abordaje de la duodenitis implica realizar un amplio diagnóstico diferencial. Las patologías de este sector del intestino delgado son muy diversas e incluyen procesos congénitos, inflamatorios, traumáticos y neoplásicos. En el presente caso, comentamos una duodenitis erosiva secundaria a una infección por H. pylori (AU)

Due to the relationship of the duodenum with all other adjacent organs, the approach to duodenitis requires a broad differential diagnosis. Diseases in this part of the small intestine are diverse and include congenital, inflammatory, traumatic and malignant processes. Here, we discuss a case of erosive duodenitis secondary to Helicobacter pylori infection. (AU)

Diarrea grave en una lactante previamente sana: un reto diagnóstico / Severe diarrhoea in a previously healthy infant: a diagnostic challenge

Aunque la causa más frecuente de los procesos diarreicos infantiles son las infecciones, ante cuadros graves y prolongados en el tiempo en los lactantes hay que descartar causas congénitas como trastornos genéticos o inmunodeficiencias. La colitis por citomegalovirus (CMV) es una causa poco frecuente de diarrea crónica en niños inmunocompetentes. Por lo general, su curso es leve y autolimitado, por lo que debemos pensar la posibilidad de que exista una inmunodeficiencia en los casos con una evolución más grave. Se recomienda realizar un estudio endoscópico en estos pacientes, precisando tratamiento antiviral aquellos con un curso de la enfermedad más grave o en caso de confirmarse situación de inmunodepresión (AU)

Although the most frequent cause of childhood diarrheal processes is infection, in the case of severe and prolonged symptoms in infants, congenital causes such as genetic disorders or immunodeficiencies must be ruled out. Cytomegalovirus (CMV) colitis is a rare cause of chronic diarrhoea in immunocompetent children. In general, it is a mild and self-limiting disease, so the possibility of immunodeficiency should be considered in cases with a more severe course. Performance of an endoscopic examination is recommended in these patients, and antiviral treatment is required in those with more severe forms of disease or with confirmed immunosuppression. (AU)

Úlcera rectal solitaria secundaria a prolapso rectal recurrente / Solitary rectal ulcer secondary to recurrent rectal prolapse

El síndrome de úlcera rectal solitaria (SURS) es una entidad excepcional en Pediatría, en especial si se acompaña de prolapso rectal recurrente. Es habitual que se confunda con otras entidades, como la enfermedad inflamatoria intestinal (EII), lo que puede conllevar retraso en el diagnóstico. Clínicamente, se manifiesta como tenesmo, urgencia defecatoria, rectorragia leve que puede estar acompañada de moco y sensación de evacuación incompleta. Para el diagnóstico es fundamental la realización de una rectoscopia con toma de biopsias. El tratamiento es controvertido, ya que no existen guías consensuadas para el manejo de esta entidad. La presencia de prolapso recurrente suele requerir cirugía (AU)

Solitary rectal ulcer syndrome (SURS) is a rare disease in paediatrics, especially when it is associated with recurrent rectal prolapse. It can be easily confused with other conditions, such as inflammatory bowel disease (IBD), which can lead to a delayed diagnosis. It manifests in the form of tenesmus, faecal urgency, mild rectal bleeding possibly accompanied by mucus and incomplete evacuation. Performance of a rectoscopy with collection of biopsy samples is essential for diagnosis. Its treatment is still subject to controversy, as there are no consensus guidelines for the management of this disease. If there is recurrent prolapse, surgery is usually required. (AU)

Infección por SARS-CoV-2 en neonatos menores de 28 días. Serie de casos multicéntrica / SARS-CoV-2 infection in infants aged 28 days and younger. A multicentre case series

No disponible

Irritabilidad y síndrome de Williams / Irritability and Williams syndrome

El síndrome de Williams es una enfermedad genética poco frecuente que fue descrita por primera vez en 1961. Entre su espectro clínico, destaca la aparición de dismorfia facial, cardiopatía (en especial, estenosis aórtica supravalvular), discapacidad intelectual e hipercalcemia idiopática. En estos niños es frecuente la aparición de irritabilidad en el periodo lactante. Se presenta el caso de un lactante con este problema, y se aprovecha el mismo para hacer el diagnóstico diferencial de sus posibles orígenes (AU)

Williams syndrome is a rare genetic disease that was first described in 1961. Among its clinical spectrum, the appearance of facial dysmorphia, heart disease (especially supravalvular aortic stenosis), intellectual disability and idiopathic hypercalcemia stand out. In these children, irritability in the lactating period is frequent. We report the case of an infant with this problem, and it is used to make the differential diagnosis of its possible origins. (AU)

Síndrome de Joubert / Joubert syndrome

El síndrome de Joubert es una enfermedad multisistémica poco frecuente. Se caracteriza por una malformación congénita del tronco cerebral e hipoplasia del vermis cerebeloso. Estas alteraciones provocan, entre otros, problemas respiratorios, hipotonía y retraso del desarrollo psicomotor. Puede asociar alteraciones a nivel renal, hepático u ocular, entre otros. No existe un tratamiento curativo de la enfermedad; por ello es importante un diagnóstico precoz, para ofrecer un seguimiento multidisciplinar y así poder mejorar el pronóstico y la calidad de vida de los pacientes y sus familias. (AU)

Joubert syndrome is a rare neurological disorder. It is characterized by the absence or underdevelopment of the cerebellar vermis and a malformed brain stem. These abnormalities cause signs and symptoms that include abnormal breathing patterns, hypotonia and development delay. It may associate kidney, liver or eye abnormalities. Treatment is supportive and depends on the symptoms in each person. This is why early diagnosis is so important, to offer a multidisciplinary strategy for improving the prognosis and quality of life. (AU)

Safety and effectiveness of vedolizumab in paediatric patients with inflammatory bowel disease: an observational multicentre Spanish study.

Vedolizumab is a humanised monoclonal antibody that binds to integrin α4ß7 expressed in T-cells, inhibiting its binding to the mucosal addressin cell adhesion molecule-1 (MAdCAM-1), which is specifically expressed in the small intestine and colon, playing a fundamental role in T-cell migration to the gastrointestinal tract. Vedolizumab has been shown to be effective in treating adults with inflammatory bowel disease; however, efficacy data for paediatric use are scarce. The objective of the present study was to assess the effectiveness and safety of vedolizumab for inducing and maintaining clinical remission in children with inflammatory bowel disease. We conducted a retrospective multicentre study of patients younger than 18 years with inflammatory bowel disease refractory to anti-tumour necrosis factor alpha (anti-TNF-α) drugs, who underwent treatment with vedolizumab. Clinical remission was defined as a score < 10 points in the activity indices. We included 42 patients, 22 of whom were male (52.3%), with a median age of 13.1 years (IQR 10.2-14.2) at the start of treatment. Of the 42 patients, 14 (33.3%) had Crohn's disease (CD) and 28 (66.7%) had ulcerative colitis (UC). At the start of treatment with vedolizumab, the Paediatric Crohn's Disease Activity Index was 36 (IQR 24-40) and the Paediatric Ulcerative Colitis Activity Index was 47 (IQR 25-65). All of them had received prior treatment with anti-TNF and 3 patients ustekinumab. At week 14, 69% of the patients responded to the treatment (57.1% of those with CD and 75% of those with UC; p=0.238), and 52.4% achieved remission (35.7% with CD and 60.7% with UC; p=0.126). At 30 weeks, the response rate was 66.7% (46.2% and 78.3% for CD and UC, respectively; p=0.049), and 52.8% achieved remission (30.8% and 65.2% for CD and UC, respectively; p=0.047). Among the patients with remission at week 14, 80% of the patients with CD and 84.5% of those with UC maintained the remission at 52 weeks. Adverse effects were uncommon and mild. Three patients (7.1%) presented headaches, 1 presented alopecia, 1 presented anaemia and 1 presented dermatitis.Conclusion: The results show that treatment with vedolizumab is a safe and effective option for achieving clinical remission in paediatric patients with inflammatory bowel disease with primary failure or loss of response to other treatments, especially in UC. What is Known: • Vedolizumab is effective in inducing and maintaining remission in adult patients with inflammatory bowel disease. • Most studies and clinical trials have been performed on adult populations, and there is currently no indication for paediatric populations. What is New: • Children with inflammatory bowel disease refractory to anti-TNF presented higher clinical remission rates than those published for adults. • There are few publications of this magnitude on paediatric populations treated with vedolizumab and with long-term follow-up (52 weeks).

Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.

We report the clinical, biochemical and genetic findings from a Spanish boy of Caucasian origin who presented with fever-dependent RALF (recurrent acute liver failure) and osteogenesis imperfecta (OI). Whole-exome sequencing (WES) uncovered two compound heterozygous variants in NBAS (c.[1265 T > C];[1549C > T]:p.[(Leu422Pro)];[(Arg517Cys)]), and a heterozygous variant in P4HB (c.[194A > G];[194=]:p.[(Lys65Arg)];[(Lys65=)]) that was transmitted from the clinically unaffected mother who was mosaic carrier of the variant. Variants in NBAS protein have been associated with ILFS2 (infantile liver failure syndrome-2), SOPH syndrome (short stature, optic nerve atrophy, and Pelger-Huët anomaly syndrome), and multisystem diseases. Several patients showed clinical manifestations affecting the skeletal system, such as osteoporosis, pathologic fractures and OI. Experiments in the patient's fibroblasts demonstrated that mutated NBAS protein is overexpressed and thermally unstable, and reduces the expression of MGP, a regulator of bone homeostasis. Variant in PDI (protein encoded by P4HB) has been associated with CLCRP1 (Cole-Carpenter syndrome-1), a type of severe OI. An increase of COL1A2 protein retention was observed in the patient's fibroblasts. In order to study if the variant in P4HB was involved in the alteration in collagen trafficking, overexpression experiments of PDI were carried out. These experiments showed that overexpression of mutated PDI protein produces an increase in COL1A2 retention. In conclusion, these results corroborate that the variants in NBAS are responsible for the liver phenotype, and demonstrate that the variant in P4HB is involved in the bone phenotype, probably in synergy with NBAS variants.

Hepatomegalia, polifagia e hipertransaminasemia / Large liver, polyphagia and hipertransaminasemia

La glucogenosis es una enfermedad metabólica poco frecuente, producida por un trastorno del metabolismo de los hidratos de carbono. Existen múltiples variantes en función de la enzima implicada, la tipo 9 se produce por una deficiencia de la glucógeno desfoforilasa-cinasa a nivel hepático y se caracteriza por la presencia de hepatomegalia, hipertransaminasemia e hipoglucemia con el ayuno. Se presenta el caso de una lactante de 10 meses, cuyos síntomas guías fueron la distensión abdominal y la hiperfagia. El diagnóstico de glucogenosis se confirmó mediante el estudio genético, objetivándose una mutación en el gen PHKG2, compatible con el diagnóstico de enfermedad de almacenamiento de glucógeno tipo 9C. Se instauró tratamiento sintomático, evitando el ayuno y aumentando la ingesta hidratos de carbono de absorción lenta, con buena evolución clínica

Glycogenesis is a rare metabolic disease caused by a carbohydrate metabolism disorder. There are multiple variants depending on the enzyme involved. Type 9 is produced by a deficiency of glycogen defoforilase-kinase in the liver and is characterized by the presence of hepatomegaly, hypertransaminasemia and hypoglycemia during fasting. We describe the case of a 10-month-old girl, whose guiding symptoms were abdominal distention and hyperphagia. The diagnosis of glycogenosis was confirmed by genetic study, observing a mutation in the PHKG2 gene, compatible with the diagnosis of type 9C glycogen storage disease. Symptomatic treatment was established, avoiding fasting and increasing the intake of slowly absorbing carbohydrates, with good clinical evolution

Síndrome de ACNES: no todo dolor abdominal es visceral / ACNES syndrome, not all abdominal pain is visceral

El anterior cutaneous nerve entrapment syndrome (ACNES) es un tipo de dolor abdominal crónico originado en la pared abdominal. Su diagnóstico inicialmente es clínico, basado en historia clínica y exploración física compatibles, con signos de Carnett, pinch test o disestesias positivos. El diagnóstico definitivo se realiza a través de la mejoría clínica tras infiltración con anestésico tópico en el punto de máximo dolor. Este síndrome es poco conocido y por consiguiente infradiagnosticado, suponiendo un exceso de pruebas complementarias innecesarias e invasivas

The anterior cutaneous nerve entrapment syndrome (ACNES) is a type of chronic neuropathic pain felt in the abdominal wall. Initially, its diagnosis is clinical, based on a compatible clinical history and physical examination, with Carnett signs, Pinch test and/or positive dysesthesias. The definitive diagnosis is made through clinical improvement after infiltration with topical anesthetic at the point of maximum pain. This syndrome is frequently overlooked and therefore underdiagnosed, involving an excess of unnecessary and invasive complementary tests

¿Dónde está la vesícula biliar? / Where is the gallbladder?

Se presenta el caso de un lactante con agenesia de la vesícula biliar de diagnóstico prenatal. Este hallazgo es poco común. En la mayor parte de los casos se detecta de manera casual durante una exploración quirúrgica. No es infrecuente que produzca sintomatología (25-30%), y cuando lo hace, esta es indistinguible de otras patologías de vías biliares. El reto fundamental en esta entidad es su diagnóstico prequirúrgico, cada día más factible dados los avances en las técnicas de imagen. Dada la baja tasa de complicaciones y la buena evolución de estas, es una entidad con un pronóstico favorable

A case of an infant with prenatally diagnosed gallbladder agenesis is reported. This is an uncommon finding, being detected in most cases by chance during a surgical exploration. It is not uncommon for it to produce symptoms (25-30%), and when it does, it is indistinguishable from other biliary pathologies. The fundamental challenge in this entity is its pre-surgical diagnosis, each day more feasible given the advances in imaging techniques. Given the low rate of complications and their good evolution, it is an entity with a favorable prognosis

COVID-19 Gastrointestinal Manifestations Are Independent Predictors of PICU Admission in Hospitalized Pediatric Patients.

Multicenter study conducted in 15 hospitals including 101 COVID-19 pediatric inpatients aiming to describe associated gastrointestinal (GI) manifestations. GI symptoms were present in 57% and were the first manifestation in 14%. Adjusted by confounding factors, those with GI symptoms had higher risk of pediatric intensive care unit admission. GI symptoms are predictive of severity in COVID-19 children admitted to hospitals.

Disfagia secundaria a arteria subclavia derecha aberrante / Dysphagia secondary to aberrant right subclavian artery

El arco aórtico izquierdo con arteria subclavia derecha aberrante (ARSA) es la anomalía más frecuente del arco aórtico. El diagnóstico prenatal mediante ecocardiografía ha permitido su diagnóstico precoz, pero sigue siendo generalmente un diagnóstico incidental. La mayoría de los casos son asintomáticos, pero una proporción de pacientes cursa con disfagia de predominio para sólidos. En menor medida puede provocar fallo de medro o clínica respiratoria por compresión extrínseca de la vía aérea. El diagnóstico se suele realizar mediante estudio esófago-gastroduodenal con contraste baritado, y otras técnicas útiles son la tomografía computarizada (TC) y la resonancia magnética (RM) con angiografía, así como el ecocardiograma con Doppler color. El tratamiento de elección en pacientes sintomáticos es la cirugía

Left aortic arch with aberrant right subclavian artery is the most frequent anomaly of the aortic arch. Prenatal diagnosis through echographic imaging has allowed early diagnosis, but the entity still remains mainly an incidental finding. Most cases are asymptomatic, but a subset of patients suffer from dysphagia with the intake of solid food. In a small percentage it can cause poor weight gain or respiratory symptoms secondary to extrinsic compression of the airway. Diagnosis relies usually in oesophagography with barium contrast, although computerized tomography and magnetic resonance with angiography have also shown to be useful, as well as echocardiogram with colour Doppler. Surgery is the preferred treatment option for symptomatic patients