Neuroendocrine neoplasms of the orbit: report of three cases and a literature review.

Neuroendocrine neoplasms (NENs) originate from neuroendocrine cells, and mainly occur in the gastrointestinal tract and lungs, rarely occurring in the orbit. Here, the clinicopathologic factors, treatments and prognosis of three cases of orbital NENs are described. The mean age of the three patients (two females and one male) was 59 years. Two cases exhibited ocular symptoms, including unilateral proptosis and eyelid mass, while the third case presented systemic symptoms exhibited as Cushing's syndrome. The tumours were surgically resected in all three patients. Immunohistochemistry assays revealed positive expression for pan cytokeratin and epithelial membrane antigen in all cases. Additionally, neural cell adhesion molecule 1 (also known as CD56) and synaptophysin were positive in two cases. The pathological diagnosis for case 1 and 2 was 'neuroendocrine carcinoma' and both patients died three months after diagnosis. Case 3 was diagnosed with a neuroendocrine tumour and the symptoms of Cushing's syndrome gradually improved following surgery. In addition, no recurrence was observed during the four-year follow-up period. These cases demonstrate that orbital neuroendocrine tumours show different clinical manifestations due to the different types. Pathology may clarify the diagnosis, classification and grading, and provide a reference value for treatment and prognosis.

Teratoma orbitario maduro congénito: reporte de un caso / Congenital mature orbital teratoma: A case report

Los teratomas son neoplasias gonadales o extragonadales, derivadas de los tres tejidos embrionarios, compuesto de células germinales del neuroectodermo, del mesodermo y del ectodermo. El teratoma orbitario congénito (TOC) afecta comúnmente a la órbita izquierda, predominando en mujeres sobre hombres a razón 2:1. Se presenta el caso de un paciente femenino de 9días de vida extrauterina con un teratoma orbitario congénito maduro izquierdo, intervenida por el servicio de órbita y oculoplástica, realizando una exenteración orbitaria y resección total de la masa tumoral (AU)

Teratomas are gonadal or extragonadal neoplasms, derived from the three embryonic tissues, composed of germ cells of the neuroectoderm, mesoderm and ectoderm. Congenital orbital teratoma (OCT) commonly affects the left orbit, primarily affecting women over men at a ratio of 2:1. We present the case of a female patient of 9days of extrauterine life with a left mature congenital orbital teratoma. The orbit and oculoplastic service performed an orbital exenteration and total resection of the tumor mass (AU)

Optic Nerve Sheath Meningiomas: Solving Diagnostic Challenges with 68Ga-DOTATOC PET/CT.

68Ga-DOTATOC PET could be a noninvasive, highly sensitive, and specific technique for the challenging diagnosis of optic nerve sheath meningioma (ONSM). Our objective was to report the use and results of 68Ga-DOTATOC PET in suspected ONSM. Twelve subjects who underwent 68Ga-DOTATOC PET for suspected ONSM in our department were retrospectively included. Standardised clinical and radiological data were collected. The PET examination results were classified as positive or negative, and lesion standardised uptake values (SUVmax) were recorded. 68Ga-DOTATOC PET confirmed positive uptake in six cases (SUVmax > 5), leading to ONSM diagnoses followed by radiation therapy in patients with vision loss. Six 68Ga-DOTATOC PET scans were considered negative (SUVmax < 5); these comprised one case of neurosarcoidosis, one cavernous malformation, and four uncertain diagnoses, leading to further investigation. 68Ga-DOTATOC PET was helpful in tumour volume delineation before radiation therapy, leading to a decrease in dose exposure. Noninvasive 68Ga-DOTATOC PET should be performed before treating nonhistologically proven meningiomas with radiotherapy or stereotactic radiosurgery, particularly in cases of uncertain diagnosis with MRI, which characterises most ONSM cases. PET SUVmax thresholds to distinguish meningioma from nonspecific uptake in other lesions need to be adapted to ONSM. 68Ga-DOTATOC PET improves the intraorbital lesion diagnostic approach and therefore impacts therapeutic management.

Congenital mature orbital teratoma: A case report.

Teratomas are gonadal or extragonadal neoplasms, derived from the three embryonic tissues, composed of germ cells of the neuroectoderm, mesoderm and ectoderm. Congenital orbital teratoma (OCT) commonly affects the left orbit, primarily affecting women over men at a ratio of 2:1. We present the case of a female patient of 9 days of extrauterine life with a left mature congenital orbital teratoma. The orbit and oculoplastic service performed an orbital exenteration and total resection of the tumor mass.

Rapidly progressive orbital intravascular papillary endothelial hyperplasia in a newborn.

Intravascular papillary endothelial hyperplasia (IPEH), also known as "vegetant intravascular haemangioendothelioma", is a rare benign proliferation of vascular endothelial cells secondary to intravascular thrombosis and thrombus organisation. It can develop from vascular lesions such as haemangiomas, pyogenic granulomas or varicose veins. This vascular tumour of the skin and subcutaneous tissue may exhibit rapid and progressive growth, and is usually located in the neck or head. Ocular presentation is unusual and orbital involvement is even rarer. We report a case of a preterm newborn male with a rapidly growing left orbital mass that was histologically diagnosed as intravascular papillary endothelial hyperplasia. He was successfully managed with total excision of the tumour and propranolol therapy and remains recurrence free after an eight-year follow-up.

Hiperplasia endotelial papilar intravascular orbitaria rápidamente progresiva en un recién nacido / Rapidly progressive orbital intravascular papillary endothelial hyperplasia in a newborn

La hiperplasia endotelial papilar intravascular (IPEH), también conocida como «hemangioendotelioma vegetante intravascular», es una proliferación benigna y rara de células endoteliales vasculares, secundaria a trombosis intravascular u organización del trombo. Puede desarrollarse a partir de lesiones vasculares como hemangiomas, granulomas piógenos o várices. Este tumor vascular de la piel y del tejido subcutáneo puede presentarse como crecimiento rápido y progresivo, y es usualmente localizado en cuello o cabeza. La presentación ocular es inusual y la afectación orbitaria es todavía más rara. Presentamos un caso de un varón recién nacido pretérmino, el cual presentó una masa orbitaria izquierda de crecimiento rápidamente progresivo y se obtuvo el diagnóstico por histología de hiperplasia endotelial papilar intravascular. El paciente fue exitosamente tratado mediante una escisión total del tumor y terapia con propranolol. Actualmente, después de un seguimiento de ocho años, ha permanecido sin recurrencias (AU)

Intravascular papillary endothelial hyperplasia (IPEH), also known as “vegetant intravascular haemangioendothelioma”, is a rare benign proliferation of vascular endothelial cells secondary to intravascular thrombosis and thrombus organisation. It can develop from vascular lesions such as haemangiomas, pyogenic granulomas or varicose veins. This vascular tumour of the skin and subcutaneous tissue may exhibit rapid and progressive growth, and is usually located in the neck or head. Ocular presentation is unusual and orbital involvement is even rarer. We report a case of a preterm newborn male with a rapidly growing left orbital mass that was histologically diagnosed as intravascular papillary endothelial hyperplasia. He was successfully managed with total excision of the tumour and propranolol therapy and remains recurrence free after an eight-year follow-up (AU)

Orbital aspergillosis: a case report and review of the literature.

BACKGROUND: Orbital aspergillosis is a rare sight- and life-threatening fungal infection affecting immunocompromised or otherwise healthy patients. It is often misdiagnosed due to its unspecific clinical and radiologic appearance. Therapeutic delay can have dramatic consequences. However, progress in microbiological diagnostic techniques and therapeutic experience from case series help improve the management of this disease. CASE PRESENTATION: A 78-year-old immunocompetent woman presented at an eye clinic for subacute swelling, reddening, and ptosis of her left upper eyelid. Based on radiologic and histologic considerations, she was treated for idiopathic orbital inflammation, but her condition worsened. After a second biopsy of the orbital mass, aspergillosis was diagnosed. Her condition improved promptly after initiation of an oral voriconazole treatment. Additionally, using a polymerase chain reaction (PCR) assay, A. fumigatus was identified on tissue of both biopsies and its azole susceptibility was examined simultaneously. CONCLUSIONS: In the case described here, oral antifungal treatment was sufficient for the therapy of invasive orbital aspergillosis. Performing fungal PCR on orbital tissue can accelerate the diagnostic process and should be performed in ambiguous cases of slowly growing orbital mass. Finally, interdisciplinary management is the key to optimal treatment of orbital tumours and infections.

Outcomes of surgical resection of sphenoid-orbital meningiomas with Sonopet ultrasonic aspirator.

Purpose: Surgical resection is the mainstay of treatment for spheno-orbital meningiomas. The Sonopet® is an ultrasonic aspirator device that provides several advantages over the traditional standard suction techniques and bone drill, including decreased collateral soft tissue damage, more precise bone removal and a clearer operative field. The purpose of the study was to examine the treatment outcomes of Sonopet®-assisted resection of spheno-orbital meningiomas.Methods: A retrospective chart review was conducted in seven patients with spheno-orbital meningioma in a single institution who underwent surgical resection with the Sonopet®. Pre-operative and post-operative data included the assessment of visual acuity, relative afferent pupillary defect (RAPD), Ishihara score, proptosis, fundus examination, computerised visual fields and the presence or absence of diplopia, headache, and other neuro-ophthalmic complications.Results: Nine Sonopet®-assisted procedures were performed on seven patients. Post-operatively, 89% of cases had stabilization or improvement of visual acuity and colour vision, whilst 29% had improved visual fields with the remainder being stable. Proptosis improved in all patients. Five of nine cases (44%) had new post-operative cranial nerve palsies, of which 75% were transient. One patient had tumour recurrence after 14 months, requiring further tumour resection and radiotherapy.Conclusion: Sonopet®-assisted resection of spheno-orbital meningiomas has comparable outcomes of visual improvement and complication rates to traditional resection techniques. Longer periods of post-operative observation and follow-up are recommended to observe long-term benefits.

A rare case of orbital angioleiomyoma.

A 65-year old woman presented with 3-year history of painless, gradual swelling of the right upper eyelid associated with proptosis. Computed tomography (CT) and magnetic resonance imaging (MRI) of the orbit showed a well circumscribed soft tissue mass in the supero-lateral orbit. An excision biopsy of the lesion was performed via lateral orbitotomy. Histopathology examination and immunochemistry staining confirmed the diagnosis of cavernous angioleiomyoma. The tumour was excised completely. Orbital angioleiomyoma is a rare benign tumour and the lesion can cause visual morbidity, particularly when intraconal. Despite sophisticated imaging modalities, histopathological analysis is essential for diagnosis. Angioleiomyoma should be included in the differential diagnosis of well-defined orbital lesions. Complete surgical excision carries a low risk of recurrence.

Tumour of the orbit and pterygopalatine fossa: delayed recognition of possible IgG4-related disease.

INTRODUCTION: IgG4-related disease (IgG4-RD) is a systemic fibrotic-inflammatory disease characterised by elevated serum concentration of IgG4 and tissue infiltration by plasma cells. IgG4-RD is a newly recognised fibro-inflammatory condition, characterised by organ mass lesions, special histopathological appearance, and - often but not always - elevated serum IgG4 concentrations. IgG4-RD is a separate, clinically distinct disease entity, but, due to its heterogeneous manifestation, it is a subject of interest of physicians of various specialties. Histopathological examination is the gold standard in the diagnosis. CASE REPORT: In the paper we discuss the case of a 13-year-old patient who had been diagnosed with fully symptomatic IgG4-RD nine years after initial manifestation. Although IgG4-RD is diagnosed markedly more often in adults than in children, in this case report we would like to emphasise that the disease may also occur in paediatric patients, and it constitutes both a diagnostic and therapeutic challenge in this age group. CONCLUSIONS: IgG4-RD is a poorly recognised disease, especially in the paediatric population. To the best of our knowledge, case reports on IgG4-RD in paediatric patients available in the literature are sparse. The non-specific and heterogeneous manifestation may hinder the diagnostic process, and in some cases the disease is diagnosed accidentally, especially when it is asymptomatic. Since 2015, the first-line treatment in IgG4-RD has been glucocorticoids; however, combination therapies should not be underestimated as another method to achieve permanent remission.

Orbital Plasmacytoma, An Uncommon Presentation of Advanced Multiple Myeloma.

INTRODUCTION: Extramedullary plasmacytomas are present in 13% of multiple myeloma (MM) patients. Less than 5% of MM cases are non-secretory. The orbital location is uncommon and a minority of orbital tumours are plasmacytomas. DESCRIPTION: The patient was a 71-year-old man, with right proptosis, retro-ocular pain and epistaxis with visual acuity 2/10, limitation of upper eye movement and scattered ecchymosis. Blood tests revealed severe anaemia, coagulopathy, increased serum creatinine, LDH and C-RP without improvement after antimicrobial treatment. Peripheral immunophenotyping showed 9.4% of plasma cells with intracytoplasmic clonal κ chains. IgG and λ chains were decreased with normal plasma and urine immunofixation. Orbital CT: retro-orbital superomedial tumour with bone destruction. Histology of the tumour and bone biopsy was consistent with plasmacytoma. The patient was deceased in 2 weeks. DISCUSSION: MM accounts for 10% of haematopoietic tumours; 7% of cases present with plasmacytomas at diagnosis. Orbital locations are rarely reported (frequently in the temporal region). Proptosis, ptosis and reduced visual acuity are common symptoms. However, orbital pain is less frequent. Most cases of MM demonstrate hypergammaglobulinaemia. Only 5% of MM cases are non-secretory.The uncommon location, topography, symptom peculiarities and absence of monoclonality led to the diagnostic challenge of this fatal case of MM. LEARNING POINTS: Multiple myeloma (MM) represents 10% of malignant haematologic disease, 13% of which presents plasmacytomas (mostly in the axial skeleton).Orbital plasmacytoma is an uncommon presentation of MM and only 1% of orbital tumours are plasmacytomas. Proptosis is the most common symptom.Although the majority of MM cases demonstrate hypergammaglobulinaemia, non-secretory MM is described as constituting less than 5% of cases.

Paediatric orbital alveolar soft part sarcoma recurrence during long-term follow-up: a report of 3 cases and a review of the literature.

BACKGROUND: Alveolar soft part sarcoma (ASPS) is a clinically and morphologically distinct malignant soft tissue tumour. It occurs mostly in the lower extremities in adults. The purpose of our study was to describe the related clinicopathologic factors, treatment and prognosis of recurrent orbital ASPS in children. CASE PRESENTATION: Three children aged from 1 to 12 years presented with unilateral proptosis, restricted ocular motility and impaired visual acuity of the affected eye. Periodic acid Schiff (PAS) -positive diastase-resistant crystalline granules were found in all cases. Immunostaining of TFE-3, INL1 and Ki67 was positive in the tumour cells of two patients. The time until local recurrence of primary tumor in patient 2 and patient 3, who only underwent tumour resection, was shorter than that of patient 1, who underwent tumour excision and postoperative radiotherapy. The recurrent masses were successfully treated with complete tumour excision followed by adjuvant radiotherapy. Patient 1 presented metastasis at 11 years after radiotherapy. CONCLUSIONS: Orbital ASPS in children is easily misdiagnosed due to its rare occurrence and atypical clinical findings. Early diagnosis with multidisciplinary, complete surgical resection combined with adjuvant radiotherapy is essential for achieving long-term disease-free survival in orbital ASPS patients.

Concomitant Orbital Tumours: Small Lymphocytic Lymphoma Involving the Lacrimal Gland of a Patient with Clinical Diagnoses of Muir-Torre Syndrome and Extensive Sebaceous Gland Carcinoma of the Ipsilateral Eyelid.

BACKGROUND/AIMS: We present a case of 2 concomitant tumours, i.e., a sebaceous carcinoma (SC) and a small lymphocytic lymphoma (SLL), in the lacrimal gland of a patient with Muir-Torre syndrome. METHODS: Clinical history, orbital examination, diagnostic biopsy, excisional biopsy, and histopathologic analysis were utilized. RESULTS: An 89-year-old female presented to the eye casualty with corneal ulcer, anterior uveitis, proptosis, and restricted ocular motility. She has a clinical history of breast cancer, colon carcinoma, and SC of the eyelid, which had been resected completely 2 years before. Clinical examination, imaging, and diagnostic biopsy confirmed orbital SC recurrence. Exenteration and subsequent histopathologic analysis of the specimen revealed lymphocytic infiltrates consistent with SLL within the lacrimal gland. CONCLUSION: We report for the first time a case of a patient with Muir-Torre syndrome who developed an orbital recurrent SC with an incidental finding of a lacrimal gland B non-Hodgkin lymphoma consistent with SLL. Clinicians should be aware of the possibility of this coexistence of multiple cancer types in patients with sebaceous carcinoma and Muir-Torre syndrome.

Intraconal optic sheath schwannoma: report of two cases.

Optic sheath schwannoma is extremely rare. We discuss two cases of intraorbital intraconal optic sheath schwannoma. Vision significantly improved in both patients following the surgery. We have briefly described the surgical technique & discussed the relevant literature.

Anterior orbital leiomyoma originating from the supraorbital neurovascular bundle.

PURPOSE: To present a young female patient with left anterior orbital leiomyoma that originates from the supraorbital neurovascular bundle. CASE PRESENTATION: A 41-year-old female patient was admitted to our clinic with a complaint of swelling of the left upper eyelid. Based on the ophthalmological and imaging assessments, the excisional biopsy with the preliminary diagnosis of dermoid cyst was planned. The histopathological and immunohistochemical examinations of excised sample revealed surprisingly that the tumour was a leiomyoma. No recurrence was detected in the patient's follow-up. CONCLUSION: Although it is rare, orbital leiomyoma should be considered in the differential diagnosis of patients with orbital tumour.

Proptosis as initial manifestation of Burkitt's lymphoma with orbital involvement. / Proptosis como manifestación inicial de linfoma de Burkitt con afectación orbitaria.

CASE PRESENTATION: A 35-year-old woman without any known systemic disorder presented with a complaint of painful and rapidly increasing proptosis in her right eye. Based on the clinical, radiological, analytical and ophthalmological assessments, the diagnosis made was Burkitt's lymphoma in acquired immunodeficiency syndrome. CONCLUSION: Proptosis can be an unusual way of presenting with Burkitt's lymphoma associated with acquired immunodeficiency. This differential diagnosis is important because confirmation leads to a change in the vital prognosis of the patient.

Sporadic Burkitt's lymphoma/acute B-cell leukaemia presenting with progressive proptosis and orbital mass in a child.

Burkitt's lymphoma (BL) is an aggressive B-cell non-Hodgkin lymphoma that is found predominantly in children, with the highest incidence occurring in Africa. The sporadic form occurs in non-endemic areas and typically involves the ileo-caecum and the bowel, whereas orbital and paranasal sinus involvement is rare. Here, we present an unusual case of sporadic BL in a Caucasian male child with rapidly progressive painful proptosis of the right eye. Magnetic resonance imaging showed an oval-shaped, extraconal mass in the supero-lateral part of the right orbit that deformed and dislocated the eyeball antero-inferiorly. The patient underwent anterior orbitotomy, and a biopsy of the excised tissue revealed a starry-sky appearance characteristic of BL. Postoperative aggressive chemotherapy was initiated with a good response after one week.

Orbital tumour due rhinosinusal extension in a patient with Wegener's granulomatosis. / Tumoración orbitaria por extensión rinosinusal en un paciente con granulomatosis de Wegener.

CASE REPORT: The case is presented of a 49 year-old woman with an orbital mass originating from the rhinosinus. She had a history of Wegener's granulomatosis, refractory to both biological and immunosuppressive therapy. Clinical examination showed proptosis, diplopia, and restriction of ocular movements. DISCUSSION: Orbital mass resection was performed, due to its rapid growth, and lack of response to medical treatment.

Long term surgical outcomes of orbital cavernous haemangiomas (low-flow venous malformations) as performed in a tertiary eye hospital in China.

OBJECTIVE: To assess the long term efficacy and safety of surgical management of orbital cavernous haemangiomas (OCH) as performed in a tertiary eye hospital in China. METHODS: A retrospective study with 74 OCH patients treated in the Eye Hospital, at the Zhongshan Ophthalmic Center, of Sun Yat-Sen University was performed covering a period from January 2002 to April 2010. The surgical approach, treatment results and visual outcome were recorded and analysed. RESULTS: Surgery was performed in all 74 patients and all tumours were completely removed. Among them, 93% of the cases (69/74) underwent anterior orbitotomy, with 43% (30/69) by a cutaneous approach, 57% (39/69) by a conjunctival approach and only 7% of the cases (5/74) used a lateral orbitotomy. The mean follow-up time was 4.6 years (range 2.0 to 10.0 years). Visual acuity improved in 32.4% of cases and deteriorated in 8.2% of cases. No residual proptosis existed. A complicated permanent pupil change was present in three cases and only one case showed a permanent slight motility deficit. Two cases with multiple masses recurred at two years after the first surgery, but neither recurring as assessed at 2 and 5 years after the second surgery. CONCLUSIONS: Most OCHs can be removed by anterior orbitotomy, using either a cutaneous or conjunctival approach. Anterior orbitotomy is a safe, convenient and effective surgical approach for OCH.

Absence of chromosomal abnormalities in herniated orbital fat.

AIMS: Lipomatous tumours of the orbit are rare, and can sometimes be difficult to characterize. Herniated orbital fat is thought to be a reactive process, but its presentation can mimic a lipomatous tumour such as an atypical lipomatous tumour or spindle cell/pleomorphic lipoma. Genetic studies to determine if it is indeed a reactive process rather than an adipocytic neoplasm have not been performed. METHODS AND RESULTS: Four samples of herniated orbital fat were reviewed clinically, histopathologically and immunohistochemically. Array comparative genomic hybridization (aCGH) was used to search for genome-wide copy number alterations within the tumours. Histological evaluation revealed that all four tumours contained collections of adipocytes surrounded by fibrous septae. Lochkern cells and floret-like multinucleated giant cells were present, consistent with herniated orbital fat. CD34 was positive in all tumours. Staining for MDM2 and CDK4 was negative. ACGH analysis demonstrated no copy number alterations. CONCLUSIONS: Herniated orbital fat may share some histopathological features with lipoma and atypical lipomatous tumour, but the absence of copy number gains or losses is consistent with the impression that herniated orbital fat is a reactive process. Genetic analysis may be another method to help differentiate herniated orbital fat from a lipomatous orbital tumour when the diagnosis is in question.