Résumé
ABSTRACT Combined hamartoma of the retina and retinal pigment epithelium is a rare, benign intraocular tumor. Hamartoma of the retina and retinal pigment epithelium has been described in the literature as a condition presenting with variable retinal damage, ranging from partial epiretinal involvement to complete distortion of the retinal layers and retinal pigment epithelium. We report the case of an 8-year-old girl presenting with longstanding strabismus who was diagnosed with Hamartoma of the retina and retinal pigment epithelium based on multimodal imaging assessment. We explored the particular imaging findings from studies using spectral-domain optical coherence tomography, fundus autofluorescence, optical coherence tomography angiography, and fluorescein angiography.
RESUMO O hamartoma combinado de retina e epitélio pigmentar da retina consiste em um tumor intraocular raro com comportamento benigno. O hamartoma combinado de retina e epitélio pigmentar da retina foi descrito na literatura apresentando dano retiniano variável, desde o envolvimento epirretiniano parcial até distorção completa das camadas retinianas e do epitélio pigmentar da retina. Relatamos o caso de uma menina de 8 anos com estrabismo de longa data que foi diagnosticada com hamartoma combinado de retina e epitélio pigmentar da retina, com base na avaliação de imagem multimodal. Exploramos os achados de imagem específicos de estudos usando tomografia de coerência óptica de domínio espectral, autofluorescência, angiografia por tomografia de coerência óptica e angiografia fluorescente.
Résumé
RESUMEN Fundamento: el hamartoma angiomiomatoso del ganglio linfático es una enfermedad vascular benigna rara de causa desconocida. Se caracteriza por el reemplazo del parénquima nodal por una mezcla de vasos sanguíneos, células musculares lisas y tejido fibroso. Objetivo: presentar el caso de un paciente con hamartoma angiomatoso de ganglio linfático diagnosticado por el Departamento de Anatomía Patológica. Presentación del caso: paciente masculino, color de la piel blanca, 34 años de edad con antecedente de trauma en región inguinal izquierda, acudió a consulta por presentar masa palpable en dicha región. Con la administración de anestesia local y sedación se aplicó tratamiento quirúrgico satisfactorio y se realizó el diagnóstico histológico de un hamartoma angiomatoso de ganglio linfático. Conclusiones: el hamartoma angiomatoso del ganglio linfático es un tumor vascular benigno poco frecuente. La extirpación de la lesión es el tratamiento de elección y el diagnóstico definitivo se deriva del análisis de una biopsia.
ABSTRACT Background: angiomyomatous hamartoma of the lymph node is a rare benign vascular disease of unknown etiology. It is characterized by the replacement of the nodal parenchyma by a mixture of blood vessels, smooth muscle cells, and fibrous tissue. Objective: to present a patient with lymph node angiomatous hamartoma diagnosed by the Department of Pathological Anatomy. Case report: 34-year-old white male patient, with a history of trauma in the left inguinal region, came to the clinic for presenting a palpable mass in that region. With the administration of local anesthesia and sedation, satisfactory surgical treatment was applied and the histological diagnosis of a lymph node angiomatous hamartoma was made. Conclusions: lymph node angiomatous hamartoma is a rare benign vascular tumor. The removal of the lesion is the treatment of choice and the definitive diagnosis is derived from the analysis of a biopsy.
Résumé
Objective To observe the multimodal imaging characteristics of combined hamatoma of the retina and retinal pigment epithelium (CHRRPE).Methods A retrospective case study.From January 2013 to December 2017,6 CHRRPE patients (6 eyes) diagnosed in Department of Ophthalmology,Sun Yat-sen Memorial Hospital were included in the study.There were 4 males and 2 females,with the mean age of 12.0±8.10 years.There were 5 eyes with BCVA ≤0.1,1 eye with BCVA＞ 1.0.Corneal fluoroscopy showed 1 eye with an external oblique 15°,and the remaining eye had no abnormalities in the anterior segment.All eyes underwent fundus color photography,FAF,FFA,ICGA,OCT and color Doppler flow imaging (CDFI).The multimodal imaging characteristics were observed.Results All the affected eyes CHRRPE were located in the posterior pole and showed mild elevation.Most of the retinal neuroepithelial layers had different degrees of hyperplasia,vascular tortuosity and retinal folds.Of the 6 eyes,4 eyes (66.7％) involving the macula and optic disc,only 2 eyes (33.3％) involving the macula.OCT showed that the structure of the neuroepithelial layer was unclear and the signal intensity was uneven;it involved 2 eyes of the whole retina (33.3％) and only 4 eyes of the neuroepithelial layer (66.7％).FFA and ICGA showed that the choroidal background fluorescence of the early lesions was weakened,and the lesions showed slightly weak fluorescence;the late telangiectasia fluorescein was obviously leaked,and the lesions were stained with fluorescence.FAF mainly appears as weak autofluorescence with a small amount of strong autofluorescence.CDFI has no characteristic performance.Conclusions CHRRPE is mainly a membrane-like hyperplasia without angiogenesis,involving the retinal neuroepithelial layer,and may also involve the entire retina.OCT is dominated by strong reflection;AF,FFA and ICGA are mainly weak fluorescence.