Hematomas en un lactante de 3 meses. La importancia del diagnóstico diferencial / Bruising in a 3-month-old infant. The importance of differential diagnosis

Introducción: el motivo de consulta en Pediatría puede o no estar relacionado con patología subyacente importante, la exploración física exhaustiva en busca de signos de alarma es fundamental. Caso clínico: presentamos el caso de un lactante de 3 meses en el que durante una visita a nuestro servicio de urgencias se detectaron hematomas. Con la sospecha inicial de un posible maltrato, se realizaron varios estudios y el diagnóstico final fue el de tromboastenia de Glanzmann. Discusión: la tromboastenia de Glanzmann es un trastorno hereditario de la función plaquetaria. Se trata de una enfermedad muy poco frecuente de herencia autosómica recesiva. El hemograma y las pruebas de coagulación básicas son normales y el diagnóstico se realiza mediante análisis de pruebas de función plaquetaria y agregometría por transmisión de luz. Conclusiones: la presencia de hematomas en un lactante de corta edad constituye siempre un motivo de investigación. Aunque por su incidencia el maltrato infantil constituye una de las principales causas, no debemos olvidar que se trata de un diagnóstico de exclusión, por lo que deberán descartarse otras patologías en función de los signos y síntomas que presente el paciente (AU)

Introduction: the presenting complaint in a paediatric visit may or not be related to an important underlying disease, so performing an exhaustive physical examination in search of warning signs is essential.Clinical case: we present the case of a 3-month-old infant in whom little bruises in thorax were detected during a visit to our emergency room. Several tests were performed to assess the initial suspicion of physical child abuse, after which the final diagnosis was Glanzmann thrombasthenia.Discussion: Glanzmann thrombasthenia is an inherited platelet function disorder. It is a rare disorder with autosomal recessive inheritance. Complete blood count and basic coagulation tests are normal, and the diagnosis is performed by platelet function testing and light transmission aggregometry.Conclusions: the presence of bruises in infants is always a reason for investigation. Although, given its frequency, child abuse is one of the leading causes, we must not forget that it is a diagnosis of exclusion. Therefore, other pathologies should be ruled out based on the presenting signs and symptoms. (AU)

Survival and toxicity outcomes of hematopoietic stem cell transplantation for pediatric patients with Fanconi anemia: a unified multicentric national study from the Spanish Working Group for Bone Marrow Transplantation in Children.

Hematopoietic stem cell transplantation (HSCT) is currently the only curative option for hematological manifestations in patients with Fanconi anemia (FA). We report the outcome of 34 patients with FA inside a collaborative multicenter national study based on recommendations of Spanish Working Group for Bone Marrow Transplantation in Children (GETMON) between 2009 and 2016. Fludarabine-based conditioning regimen was carried out in all patients, with low dose total body irradiation in unrelated transplants. Disease status before HSCT was bone marrow failure (BMF) in 30 patients and myelodysplastic syndrome (MDS) in four. Donors were matched siblings donors (MSD) in 18, matched unrelated donors (MUD) in 15, and one haploidentical donor. All except one patient engrafted. Cumulative incidence of grades II-IV acute graft-versus-host disease (GVHD) was 29% and 11% for chronic GVHD. Median follow-up after HSCT was 6.5 years. Seven patients (21%) died due to transplant-related causes, two (6%) because of MDS relapse, and one (3%) after a squamous cell carcinoma. Overall survival (OS) was 73% at 5 years post-transplant, with no differences between MSD and MUD transplants. OS for patients with BMF was 80% while for MDS was 25%. Our data suggest HSCT can cure hematologic manifestations of most FA patients with BMF.

Experience with anidulafungin in patients with allogeneic hematopoietic stem cell transplantation and graft-versus-host disease.

BACKGROUND: It is well known that both acute and chronic graft-versus-host disease (GVHD) are associated with invasive fungal disease (IFD). Because the galactomannan antigen diagnostic test has low specificity and sensitivity outside of the neutropenic period, many institutions use posaconazole or voriconazole for IFD prophylaxis during GVHD treatment. Moreover, several factors, mainly hepatic impairment, can limit the use of extended spectrum azoles, both in prophylaxis or treatment. METHODS: We retrospectively analyzed 25 patients with allogeneic hematopoietic stem cell transplantation (HSCT) and GVHD - grade III-IV acute GHVD (n = 15), progressive chronic GVHD (n = 7), and "overlap" GVHD (n = 3) - who received intravenous anidulafungin (200 mg on day 1, followed by 100 mg once daily). If necessary, anidulafungin treatment was followed by oral administration of 200 mg voriconazole twice a day or 200 mg posaconazole 3 times daily until patients were considered not at risk for IFD. RESULTS: Twenty-one patients (85%) received anidulafungin as prophylaxis and 5 patients (15%) received it as treatment. Median duration of intravenous anidulafungin administration was 8 days (range 6-17). Seven patients (28%) presented mild adverse effects, with no significant interactions with calcineurin inhibitors. Sequentially, 4 patients received voriconazole and 6 posaconazole. Two patients (8%) developed IFD after anidulafungin withdrawal: 1 with Candida albicans and the other with Mucor, 8 and 5 days after withdrawal, respectively. CONCLUSIONS: Our results are of interest owing to the absence of data in the literature on anidulafungin use in HSCT patients with GVHD, and suggest that anidulafungin, because of its spectrum, pharmacological profile, low toxicity, and absence of interactions with immunosuppressants, could be a drug of choice in this setting.

Experiencia de las Unidades de Trasplante en las comunidades ámbito de la Sociedad de Pediatría de Asturias, Cantabria y Castilla y León / Experience of the Transplant Units in the Pediatric Society in within the communities of Asturias, Cantabria and Castilla y León

Introducción: Durante las últimas dos décadas el trasplante de progenitores hematopoyéticos (TPH) se ha consolidado como un tratamiento de primera línea para diversas enfermedades congénitas y adquiridas de la infancia. Los avances en el campo y la experiencia acumulada en el manejo de las complicaciones del TPH han reducido la mortalidad y mejorado la calidad de vida de los supervivientes. El 10% de los pacientes trasplantados en España son niños. Objetivos: Analizar la experiencia de TPH pediátrico de las tres unidades de trasplante existentes en las Comunidades Autónomas pertenecientes a la Sociedad de Pediatría de Asturias, Cantabria y Castilla y León (SCCALP). Pacientes y métodos: Estudio retrospectivo de los trasplantes realizados en pacientes pediátricos (≤ 18 años de edad) en el Hospital Central de Asturias, Marqués de Valdecilla y Clínico de Salamanca, analizando especialmente los resultados de la última década. Resultados: Las tres unidades de TPH pediátrico de la SCCALP realizan todos los tipos de trasplante. La media de TPH por año y unidad en los últimos 10 años fue de 5. La indicación más frecuente de TPH fue una enfermedad maligna. Una proporción significativa de pacientes con enfermedades congénitas recibieron un TPH alogénico. La supervivencia global de los pacientes trasplantados fue del 55-65%. Conclusiones: Las indicaciones y resultados del TPH pediátrico en los centros de la SCCALP son comparables a los de otros centros de nuestro entorno. La colaboración entre los servicios de hematología y pediatría hace posible el funcionamiento de unidades mixtas de trasplante

Introduction: Hematopoietic stem cell transplantation (HSCT) has become a first line curative procedure in children and adolescents with a variety of malignant and non malignant life-threatening conditions. The enormous progress achieved in the field and the accumulated experience in the management of the complications related to the procedure in children have significantly reduced its mortality and improved the quality of life of the surviving patients. In Spain, up to 10% of the patients transplanted are children. Objective: To analyze the activity and results of pediatric HSCT in the centers of the Pediatric Society of Asturias, Cantabria and Castilla-León (SCCALP). Methods and patients: A retrospective analysis of the medical records of pediatric patients (aged ≤ 18 years) undergoing HSCT during the last 10 years at the HSCT Units of Salamanca, Oviedo and Santander. Results. HSCT centers of the SCCALP are allowed to perform all types of hematopoietic transplantation in children. A median of 5 procedures per year were performed at each unit over the last 10 years. The most common indication for a HSCT was a malignant disease while a significant proportion of patients with an inherited condition underwent an allogeneic transplantation. Overall survival for all patients was 55 to 65%. Conclusions: Indications and results of pediatric HSCT performed at the SCCALP centers are comparable to current practices. The procedure is safely performed in mixed (adult and pediatric) HSCT units when collaboration between the Hematologist and the Pediatrician is warranted

Safety of the concomitant use of caspofungin and cyclosporin A in patients with invasive fungal infections.

Caspofungin, an echinocandin antifungal agent, is active against invasive Aspergillus and Candida infections. In a phase I study in healthy volunteers, mild transient increases in serum aminotransferases were observed with the concomitant administration of caspofungin and cyclosporin A (CsA). As a result, it is recommended that the concomitant use of the two drugs be limited to those settings with appropriate risk-benefit balance. We retrospectively assessed safety data in 14 patients with refractory invasive mycoses who were treated concomitantly with CsA and caspofungin before the drug was licensed in Spain. In all, 13 patients were adults (median age, 31.5 years; range, 14-67 years). The average duration of concomitant therapy was 15 days (range, 2-43 days). No clinically significant elevations of serum aminotransferases were observed, and no patient had concomitant therapy discontinued or interrupted due to a drug-related adverse event. In this study of a limited number of patients, the coadministration of caspofungin and CsA was generally well tolerated.

Cerebral toxoplasmosis after autologous peripheral blood stem cell transplantation.

Toxoplasmosis appears to be a rare opportunistic protozoal infection following haematopoietic stem cell transplantation (HSCT). Most cases have been reported in allogeneic HSCT recipients, with only anecdotal reports of infection occurring after autologous transplantation. Reported here is the case of a patient who developed cerebral toxoplasmosis following autologous peripheral blood stem cell transplantation for non-Hodgkin's lymphoma.