ABSTRACT
El síndrome periódico asociado a la criopirina es una enfermedad rara y probablemente infradiagnosticada. Se presenta con manifestaciones sistémicas, entre ellas oftalmológicas, muy diversas, por lo que su diagnóstico supone un reto para el clínico. Presentamos el caso de una niña de 4 años en la que la identificación de papiledema en el examen oftalmológico constituyó el signo guía para el diagnóstico de síndrome periódico asociado a la criopirina. Pretendemos así concienciar sobre esta enfermedad de graves implicaciones y cuyo diagnóstico precoz resulta esencial para los afectados, para que sea tenido en cuenta con mayor frecuencia como diagnóstico diferencial (AU)
Cryopyrin-associated periodic syndrome is a rare and probably underdiagnosed disease. It presents with various systemic manifestations, including ophthalmological, making its diagnosis a challenge for the clinician. We present the case of a 4-year-old girl for which the identification of papilledema in the ophthalmological examination was the key sign for the diagnosis of cryopyrin-associated periodic syndrome. Our aim is to raise awareness of this syndrome with serious implications for affected patients, so that it is taken into account more frequently as a differential diagnosis, allowing an early diagnosis (AU)
Subject(s)
Humans , Female , Child, Preschool , Cryopyrin-Associated Periodic Syndromes/complications , Cryopyrin-Associated Periodic Syndromes/diagnosis , Papilledema/diagnostic imaging , Papilledema/etiology , Diagnosis, DifferentialABSTRACT
Cryopyrin-associated periodic syndrome is a rare and probably underdiagnosed disease. It presents with various systemic manifestations, including ophthalmological, making its diagnosis a challenge for the clinician. We present the case of a 4-year-old girl for which the identification of papilledema in the ophthalmological examination was the key sign for the diagnosis of cryopyrin-associated periodic syndrome. Our aim is to raise awareness of this syndrome with serious implications for affected patients, so that it is taken into account more frequently as a differential diagnosis, allowing an early diagnosis.
Subject(s)
Cryopyrin-Associated Periodic Syndromes , Papilledema , Female , Humans , Child, Preschool , Cryopyrin-Associated Periodic Syndromes/complications , Cryopyrin-Associated Periodic Syndromes/diagnosis , Papilledema/etiology , Papilledema/complications , Diagnosis, DifferentialABSTRACT
Mediastinal infantile hemangioma has not been reported so far (as far as we are aware), using accurate diagnostic methods. MRI scans are essential for a correct characterization and assessment of the extension. Moreover, Endothelial cell glucose transporter 1 (GLUT1) isoform protein represents an extremely important diagnostic tool to differentiate Infantile Hemangioma from other vascular neoplasms. With regards to management, surgery appears to be the treatment of choice, although it is important to highlight that it is a rare disease and more studies are needed to establish a proper diagnostic and therapeutic protocol. The prognosis seems to be favorable, with not known cases of recurrence or progression to malignancy.
Los hemangiomas infantiles suponen los tumores más comunes en la época de la infancia. Su localización principal se sitúa en la piel, seguida del hígado. Los hemangiomas mediastínicos no han sido descritos hasta la fecha utilizando los métodos diagnósticos actuales adecuados. La resonancia magnética es esencial para una correcta caracterización y evaluación de la extensión. El estudio es histológico siendo el transportador celular de glucosa tipo 1 (GLUT-1) una importantísima herramienta diagnóstica para diferenciar el hemangioma infantil de otras neoplasias vasculares. En lo que al manejo respecta, la cirugía con excisión completa de la masa parece el tratamiento de elección. Es importante resaltar la rareza de esta enfermedad y la necesidad de realizar más estudios para establecer un adecuado protocolo diagnóstico-terapéutico. El pronóstico parece ser favorable, sin constar casos de recurrencia o progresión hacia la malignidad.
