ABSTRACT
Las anomalías vasculares de la órbita (AVO) son un grupo heterogéneo de patologías que pueden presentarse con frecuencia en el cono orbitario, la región periorbitaria o dentro de la órbita misma. Las AVO se dividen en tumores y malformaciones. Su presentación clínica más frecuente es el exoftalmos, asociado o no a alteración del eje visual. Además, pueden presentar complicaciones agudas, como hemorragia intralesional o celulitis entre las más frecuentes, y complicaciones crónicas, como ambliopía y afectación de la agudeza visual a largo plazo. La evolución de las técnicas de imágenes, el uso de nuevos fármacos y la utilización de innovadores procedimientos en radiología intervencionista han posibilitado obtener una mejora significativa en los procesos diagnósticos y terapéuticos de estos pacientes, permitiendo un diagnóstico y tratamiento preciso.
Orbital vascular anomalies (OVAs) are a heterogeneous group of disorders frequently found in the orbital cone, the periorbital region, or within the orbit itself. OVAs are divided into tumors and malformations. The most frequent clinical presentation is exophthalmos, associated or not with an alteration of the visual axis. They may also cause acute complications, being intralesional bleeding or cellulitis the most frequent, and chronic complications, such as amblyopia and long-term visual acuity impairment. The development of imaging techniques, the use of new drugs, and the implementation of innovative procedures in interventional radiology have resulted in a significant improvement in the diagnostic and therapeutic approaches to these patients, essential to an accurate diagnosis and management.
Subject(s)
Humans , Child , Exophthalmos , Vascular Malformations/therapy , Vascular Malformations/diagnostic imaging , Orbit/blood supply , Orbit/pathology , Visual Acuity , Hemorrhage/pathologyABSTRACT
Orbital vascular anomalies (OVAs) are a heterogeneous group of disorders frequently found in the orbital cone, the periorbital region, or within the orbit itself. OVAs are divided into tumors and malformations. The most frequent clinical presentation is exophthalmos, associated or not with an alteration of the visual axis. They may also cause acute complications, being intralesional bleeding or cellulitis the most frequent, and chronic complications, such as amblyopia and long-term visual acuity impairment. The development of imaging techniques, the use of new drugs, and the implementation of innovative procedures in interventional radiology have resulted in a significant improvement in the diagnostic and therapeutic approaches to these patients, essential to an accurate diagnosis and management.
Las anomalías vasculares de la órbita (AVO) son un grupo heterogéneo de patologías que pueden presentarse con frecuencia en el cono orbitario, la región periorbitaria o dentro de la órbita misma. Las AVO se dividen en tumores y malformaciones. Su presentación clínica más frecuente es el exoftalmos, asociado o no a alteración del eje visual. Además, pueden presentar complicaciones agudas, como hemorragia intralesional o celulitis entre las más frecuentes, y complicaciones crónicas, como ambliopía y afectación de la agudeza visual a largo plazo. La evolución de las técnicas de imágenes, el uso de nuevos fármacos y la utilización de innovadores procedimientos en radiología intervencionista han posibilitado obtener una mejora significativa en los procesos diagnósticos y terapéuticos de estos pacientes, permitiendo un diagnóstico y tratamiento preciso.
Subject(s)
Exophthalmos , Vascular Malformations , Humans , Child , Vascular Malformations/diagnostic imaging , Vascular Malformations/therapy , Orbit/blood supply , Orbit/pathology , Visual Acuity , Hemorrhage/pathologyABSTRACT
BACKGROUND: The impact of the pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) in low- and middle-income countries remains poorly understood. Our aim was to understand the characteristics and outcomes of PIMS-TS in Argentina. METHODS: This observational, prospective, and retrospective multicenter study enrolled patients younger than 18 years-old manifesting PIMS-TS, Kawasaki disease (KD) or Kawasaki shock syndrome (KSS) between March 2020 and May 2021. Patients were followed-up until hospital discharge or death (one case). The primary outcome was pediatric intensive care unit (PICU) admission. Multiple logistic regression was used to identify variables predicting PICU admission. RESULTS: Eighty-one percent, 82%, and 14% of the 176 enrolled patients fulfilled the suspect case criteria for PIMS-TS, KD, and KSS, respectively. Temporal association with SARS-CoV-2 was confirmed in 85% of the patients and 38% were admitted to the PICU. The more common clinical manifestations were fever, abdominal pain, rash, and conjunctival injection. Lymphopenia was more common among PICU-admitted patients (87% vs. 51%, p < 0.0001), who also showed a lower platelet count and higher plasmatic levels of inflammatory and cardiac markers. Mitral valve insufficiency, left ventricular wall motion alterations, pericardial effusion, and coronary artery alterations were observed in 30%, 30%, 19.8%, and 18.6% of the patients, respectively. Days to initiation of treatment, rash, lymphopenia, and low platelet count were significant independent contributions to PICU admission. CONCLUSION: Rates of severe outcomes of PIMS-TS in the present study agreed with those observed in high-income countries. Together with other published studies, this work helps clinicians to better understand this novel clinical entity.
Subject(s)
COVID-19 , Lymphopenia , Mucocutaneous Lymph Node Syndrome , Thrombocytopenia , Child , Humans , Adolescent , COVID-19/complications , SARS-CoV-2 , Argentina , Prospective Studies , Systemic Inflammatory Response Syndrome/complications , Mucocutaneous Lymph Node Syndrome/complications , Thrombocytopenia/complications , Lymphopenia/complicationsABSTRACT
OBJECTIVE: To describe the effects of oral sirolimus administered before and after surgical resection of slow-flow vascular malformations of the scrotum in pediatric patients. METHODS: Retrospective review of 3 patients presenting with complex lymphatic-venous malformations of the scrotum who received adjuvant oral sirolimus 3 months before and 3 months after surgical resection. Demographic data, clinical course, imaging findings, and management strategies were reviewed for each patient. RESULTS: In each of the 3 patients, there was a significant volume reduction of the lesion within the 3 months after initial dose of sirolimus. Scarce lymphatic leakage during and after surgery was reported, associated with an adequate wound healing. Two years after the last postsurgical dose of sirolimus, all patients remain asymptomatic without any lymphatic leakage or lesion recurrence. CONCLUSION: Combined lymphatic-venous vascular malformations of the male genitalia are rare but associated with high morbidity and challenging treatment options. Pre- and postsurgical adjuvant treatment with oral sirolimus seems to be a promising therapeutic option that provides reduction of the lesion size before surgery and improvement of postsurgical recovery and wound healing.
Subject(s)
Lymphatic Abnormalities/therapy , Scrotum/surgery , Sirolimus/therapeutic use , Vascular Malformations/therapy , Administration, Oral , Child , Child, Preschool , Humans , Infant , Male , Postoperative Care , Premedication , Retrospective Studies , Scrotum/blood supply , Wound HealingABSTRACT
Interferon-stimulated gene 15 (ISG15) was the first ubiquitin-like modifier protein identified that acts by protein conjugation (ISGylation) and is thought to modulate IFN-induced inflammation. Here, we report a new patient from a non-consanguineous Argentinian family, who was followed for recurrent ulcerative skin lesions, cerebral calcifications and lung disease. Whole Exome Sequencing (WES) revealed two novel compound heterozygous variants (c.285del and c.299_312del, NM_005101.4 GRCh37(hg19), both classified as pathogenic according to ACMG criteria) in the ISG15 gene, resulting in a complete deficiency due to disruption of the second ubiquitin domain of the corresponding protein. The clinical phenotype of this patient is unique given the presence of recurrent pulmonary manifestations and the absence of mycobacterial infections, thus resulting in a phenotype distinct from that previously described in patients with biallelic loss-of-function (LOF) ISG15 variants. This case highlights the role of ISG15 as an immunomodulating factor whose LOF variants result in heterogeneous clinical presentations.
ABSTRACT
Las enfermedades de la vía aérea superior en la infancia constituyen la causa más frecuente de consulta al pediatra y abarcan una diversidad de trastornos cuyo abordaje preciso y oportuno es fundamental. En este nuevo volumen de las Series de Pediatría Garrahan: El niño con problemas de la vía aérea superior se han reunido pediatras con amplia experiencia en el área ambulatoria del Hospital y prestigiosos especialistas en otorrinolaringología pediátrica para resumir y actualizar las claves en el manejo integral de esta problemática. Entre sus características se destacan: El estudio detallado de las patologías clínicas más frecuentes, como otitis media aguda, rinosinusitis, estridor, tos crónica, hipoacusia y faringoamigdalitis, y de las indicaciones de amigdalectomía o adenoidectomía. El abordaje, a través de casos clínicos y de manera dinámica, con la secuencia de presentación clínica, los estudios de diagnósticos, el tratamiento y la evolución de los niños con estas patologías y sus complicaciones. El cierre de cada capítulo con un recordatorio de puntos clave y lecturas recomendadas y, además, material complementario como videos o descripción de procedimientos disponibles en el sitio web. Comparte y transmite una modalidad de trabajo propia del hospital, con base en el rol central del pediatra como coordinador de la atención interdisciplinaria en el marco de su tarea cotidiana junto a los niños y sus familias. Una obra actualizada y práctica que aporta información científica y experiencia de los profesionales de una institución de prestigio. Este tomo y las Series de Pediatría, en su conjunto, serán de gran utilidad para todos aquellos miembros del equipo de salud que atienden y cuidan niños, dondequiera que trabajen al servicio de la salud infantil.
