RESUMO
Introduction: Congenital Heart Disease (CHD) is the most common congenital disorder and a leading cause of infant mortality. Despite improved survival rates, patients with CHD often face malnutrition due to increased metabolic demands, feeding difficulties, and gastrointestinal dysfunction. Malnutrition in CHD is linked to poor short and long-term clinical outcomes. Gastrostomy (GT) is frequently used for long-term enteral support, and laparoscopic GT (LGT) has demonstrated advantages in children without CHD. This study evaluated a modified Georgeson's percutaneous LGT technique and its perioperative complications in children with CHD. Methods: We performed an analytical retrospective cohort study from 2018 to 2022, including patients younger than 24 months with a diagnosis of CHD who underwent LGT. The primary outcome evaluated was the presence of complications during surgery and the first thirty postoperative days. Complications were graded using Clavien-Dindo's (CD) classification. Sociodemographic, clinical, and procedure-related variables were collected. A bivariate analysis was performed using STATA 15, and a p < 0.05 was considered statistically significant. Results: Seventy-eight patients were eligible (male 56.41%, Median age 129.5 days, weight: 4.83â kg). The median surgery time was 35â min. The complication rate was 24.36%. The most frequent complications were GT site infection (10.26%), followed by leakage (8.97%) and granuloma formation (6.41%). Conversion to open surgery was significantly associated with postoperative complications (p = 0.002). Conclusion: This modified technique is well-tolerated in children with CHD, demonstrating a low rate of CD grade 3A/3B complications and no grade 4 or 5 complications.
RESUMO
El sarcoma de Ewing forma parte de una familia de tumores que se caracterizan por presentar translocaciones que involucran al gen EWS y algún miembro de la familia ETS que posee un dominio de unión al ADN. Se presenta el caso de un paciente de dos años de edad con una masa cervical de crecimiento rápido que por compresión local comprometió estructuras nerviosas manifestándose inicialmente con un retardo en el neurodesarrollo. Se diagnosticó Sarcoma de Ewing/Tumor neuroectodérmico primitivo por biopsia. Este es un tipo de tumor raro con una presentación inusual a nivel cervical; el cual debe tenerse en cuenta al momento de evaluar pacientes con masas cervicales en especial las de crecimiento rápido con el fin de dar un tratamiento preciso y oportuno.
Ewing's sarcoma is part of a family of tumors that is characterized by translocations that involve the EWS gene and a member of the ETS family that has a DNA binding domain. The case of a two-year-old patient who was admitted in our institution because of a rapidly growing cervical mass associated to neurodevelopment setback and functional gradual loss due to nerve compression. Ewing's sarcoma / primitive neuroectodermal tumor was diagnosed by biopsy. This is a rare type of tumor with an unusual presentation in this location; which should be taken into account when assessing a patient with cervical masses, especially those of rapid growth in order to provide an accurate and opportune treatment for improving outcomes.
Assuntos
Humanos , Sarcoma de Ewing , Neoplasias de Tecidos Moles , Tumores Neuroectodérmicos Primitivos Periféricos , Neoplasias de Cabeça e PescoçoRESUMO
El síndrome de deleción terminal 7q se presenta por una pérdida de un fragmento distal del brazo largo del cromosoma 7, siendo variable dependiendo del tamaño de la región comprometida. Su espectro clínico es amplio con alteración en varios sistemas. Reporte del caso: Paciente de 8 años quien presenta retardo del desarrollo psicomotor, lenguaje verbal ausente, pabellones auriculares en copa, sobreplegamiento del hélix, retrognatia, incisivos prominentes, hiperplasia gingival, mal oclusión dental, hernia umbilical y pie equinovaro. El cariotipo bandeo G (25 metafases analizadas, 550-600 bandas) reporta: 46, XX, del (7) (q35); 46, XX, del (7) (pter → q35:). Las alteraciones fenotípicas varían según el punto de corte cromosómico. Se comparan los hallazgos de la paciente con lo descrito en la literatura. Se establece la importancia de la caracterización clínica y realizar estudio citogenético y molecular para poder tener un diagnóstico oportuno y con esto indicar manejo preventivo y asesoría genética.
7q terminal deletion syndrome is due to a loss of the distal portion of the long arm of chromosome 7; it is variable and depends on the size of the compromised region. Its clinical spectrum is wide and includes several anatomic systems. Case report: The patient is an eightyear- old girl who shows neurodevelopmental delay, absence of speech, cupped ears with overfolding helix, retrognathia, prominent incisors with gingival hyperplasia, dental malocclusion, umbilical hernia and clubfoot. The G-banding karyotype (25 metafases analyzed, 550-600 bands) reported: 46, XX, del (7) (q35), 46, XX, del (7) (pter → q35:). Phenotypic alterations differ due to chromosomal breakpoints. We compare clinical findings of the patient with case reports published in the worldwide literature. It is important to establish a clinical characterization and to perform molecular and cytogenetic studies in order to have a well-timed diagnosis and prescribe preventive management and genetic counseling.
