ABSTRACT
Intraocular medulloepithelioma is a nonhereditary neoplasm of childhood arising from primitive medullary epithelium. It most often involves the ciliary body. Most patients present between 2 and 10 years of age with loss of vision, pain, leucocoria, or conjunctival congestion. The mass appears as a grey-white ciliary body lesion with intratumoral cysts. Presence of a neoplastic cyclitic membrane with extension to retrolental region is characteristic. Secondary manifestations like cataract and neovascular glaucoma may be present in up to 50% and 60% patients, respectively. These could be the first signs for which, unfortunately, about 50% patients undergo surgery before recognition of the hidden tumor. Systemic correlation with pleuropulmonary blastoma (DICER1 gene) has been documented in 5% cases. Histopathology shows primitive neuroepithelial cells arranged as cords closely resembling the primitive retina. Histopathologically, the tumor is classified as teratoid (containing heteroplastic elements) and nonteratoid (containing medullary epithelial elements), each of which are further subclassified as benign or malignant. Retinoblastoma-like and sarcoma-like areas may be seen within the tissue. The treatment modality depends on tumor size and extent of invasion. For small localized tumors (?3-4 clock hours), conservative treatments with cryotherapy, plaque radiotherapy, or partial lamellar sclerouvectomy (PLSU) have been used. Plaque brachytherapy is generally preferred for best tumor control. Advanced and extensive tumors require enucleation. Rare use of intra-arterial and intravitreal chemotherapy has been employed. Systemic prognosis is favorable, but those with extraocular extension and orbital involvement show risk for local recurrence and metastatic disease, which can lead to death.
ABSTRACT
Introducción: Se presenta el caso de un paciente de 10 años de edad a quien se le realizó el diagnóstico de meduloepitelioma de cuerpo ciliar con posterior enucleación. Objetivo: Presentar las principales características clínicas, abordaje diagnostico y terapéutico de un paciente con meduloepitelioma de cuerpo cilar, realizando una revisión de la literatura existente de esta patología. Diseño del estudio: Reporte de caso. Resumen del caso: Paciente masculino de 10 años de edad que presentó perdida de agudeza visual asociada a dolor ocular, al examen oftalmológico se encontró masa en cámara anterior. Se realizó biopsia de lesión iridiana diagnosticándose meduloepitelioma de cuerpo ciliar con posterior enucleación. Conclusión: Se presentó el caso de un niño con meduloepitelioma de cuerpo ciliar, exponiéndose las manifestaciones clínicas, su diagnóstico y tratamiento, así como la revisión de la literatura existente.
Background: We present the case of a 10-year-old patient who underwent a diagnosis of ciliary body medulloepithelioma with subsequent enucleation. Objective: To present the main clinical characteristics, diagnostic and therapeutic aproach of a patient with a ciliary body medulloepithelioma, carrying out a review of the existing literature of this pathology. Study design: Case report. Case summary: A 10-year-old male patient presented with loss of visual acuity associated with ocular pain. Ophthalmological examination revealed a mass in the anterior chamber. A biopsy of an iris lesion was made, diagnosing a ciliary body medulloepithelioma with subsequent enucleation. Conclusion: The case of a child with ciliary body medulloepithelioma was presented, exposing the clinical manifestations, their diagnosis and treatment, as well as the review of the existing literature.
Subject(s)
Neuroectodermal Tumors, Primitive/diagnosis , Ciliary Body/pathology , Neuroectodermal Tumors, Primitive/therapy , Eye NeoplasmsABSTRACT
Objective Toanalyzetheimagingfeaturesofmedulloepitheliomaforfurtherunderstanding.Methods Theimaging findingsof12casesofmedulloepitheliomaprovedbypathologywereanalyzedretrospectively.Results Thelesionswerelocatedin cerebralhemisphere(6),cerebellum (3),ventricularsystem (3),andalloftheminvolvedbothgrayandwhitematter.Thefeatures includedlargegrosstumorvolume,clearboundaryandperitumoraledema(8/12).Othersincludedcystic-solidlesions(11/12),completelysolidlesion (1/12),andiso-orslightlyhyper-densitywithcalcificationonCTscan.ThetypicalfeatureofMRIwas "mid-lakeisland"sign,and solidcomponentshowediso-orhypo-intensityonT1WI,isoorhyper-intensityonT2WIwithhemorrhageandnecrosis,aswellasthe tumorshowedobviousheterogeneousenhancementaftercontrast.Cystcomponentshowedthin-wallring-enhancement.Conclusion Thetypicalfeatureofthemedulloepitheliomaisthe "mid-lakeisland"sign.Thetumorhasalargevolume,andthe majorityshow cystic-solidlesions.Aboveall,medulloepitheliomashouldbeconsideredifthereisasolid-cysticlesionwithclearboundaryatchildren andadolescents.
ABSTRACT
Aim: Case report of association between diastematomyelia and medulloepithelioma. Method: 14-year-old patient with lower back pain and recent neurological deficit in extremities. CT and MRI scans of the thoracolumbar spine revealed a diastematomyelia. Intraoperative examination confirmed the presence of a spinal dysraphism and associated tumor, which was almost completely resected. Result: Histopathological and immunohistochemical findings were consistent with medulloepithelioma. Her postoperative course was uneventful. Conclusion: Diastematomyelia may manifest during adolescence as lower back pain and neurological deficit. The association of this malformation with a neoplasia is extremely rare; the present case describes concomitance with medulloepithelioma.
Reporte de un caso de asociación de diastematomielia y meduloepitelioma. Método: Paciente de 14 años con dolor lumbar y déficit neurológico en extremidades de reciente instalación. En TAC y RNM de columna dorsolumbar se pesquisa una diastematomielia. La exploración intraoperatoria, comprueba la presencia de una disrafia espinal y un tumor asociado al defecto, que se reseca casi en su totalidad. Resultado: Los hallazgos histopatológicos e inmunohistoquímicos son concordante con meduloepitelioma. La paciente tuvo un postoperatorio satisfactorio. Conclusión: La diastematomielia se puede manifestar durante la adolescencia como dolor lumbar y déficit neurológico. La asociación de esta malformación, con una neoplasia es muy poco frecuente, el presente caso describe la concomitancia con un meduloepitelioma.
Subject(s)
Humans , Adolescent , Female , Neural Tube Defects/complications , Neural Tube Defects/diagnosis , Spinal Cord Neoplasms/surgery , Spinal Cord Neoplasms/complications , Neuroectodermal Tumors, Primitive/surgery , Neuroectodermal Tumors, Primitive/complications , Low Back Pain/etiology , Spinal Cord Neoplasms/diagnosis , Spinal Dysraphism , Neuroectodermal Tumors, Primitive/diagnosisABSTRACT
PURPOSE: To report a rare case of medulloepithelioma originating from the retina. CASE SUMMARY: A nine-year-old boy visited our clinic with conjunctival injection and decreased visual acuity in the left eye, which had developed two month previously. Slit lamp examination revealed a distorted pupil and an anteriorly protruding ciliary body displacing the peripheral iris toward the cornea on the inferonasal side. Funduscopic examination showed total retinal detachment accompanied by an inferior hypervascular mass. The examination of the right eye was unremarkable. On computer tomography imaging, a calcified mass was identified behind the iris of the left globe in the inferomedial aspect, and ultrasound biomicroscopy revealed a medium to high echogenic tumor with an uneven oval cystic cavity in the ciliary body. At the follow-up examination, the size of the mass was increased, so we performed enucleation of the left eye. Pathology demonstrated that the retrolental mass abutting the lens had arisen from the retina. Histological examination revealed that the tumor had originated from the retina and extended into the ciliary body, and most of the tumor was composed of hyaline cartilage with calicification. Tumor cells were identified in the periphery, forming elongated tubules and cord-like structures that were immunohistochemically positive for vimentin, neuron-specific enolase, and CD56 compatible with a teratoid medulloepithelioma. The patient was followed up for eight months without any metastasis in the orbit or elsewhere. CONCLUSIONS: Medulloepithelioma should be considered in the differential diagnosis of pediatric orbital mass accompanied by calcification.
Subject(s)
Humans , Ciliary Body , Cornea , Diagnosis, Differential , Eye , Follow-Up Studies , Hyaline Cartilage , Iris , Microscopy, Acoustic , Neoplasm Metastasis , Neuroectodermal Tumors, Primitive , Orbit , Phosphopyruvate Hydratase , Pupil , Retina , Retinal Detachment , Vimentin , Visual AcuityABSTRACT
Medulloepithelioma(diktyoma) is a uncommon congenital tumor that is generally believed to arise from the embryonic neuroepithelium of the medullary tube. This tumor usually arises from the ciliary body epithelium. But medulloepitheliomas of the retina and optic nerve may also occur, although it is extremely rare, because the embryonal medullary epithelium that lines the optic vesicle is continuous with the epithelium lining the cavity of the optic nerve during the early embryonal period. The occurrence of medulloepithelioma of the optic nerve is exceptionally rare, with only a few cases have been previously reported. We report a first case of medulloep-ithelioma of the optic nerve head in Korea in a 5-year-old girl who presented with a poor vision and squint of the left eye.