A Case of Blastic Plasmacytoid Dendritic Cell Neoplasm with Orbital Tumor as the Initial Symptom.

BACKGROUND: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy arising from precursor dendritic cells. It is a rare and challenging clinical presentation. For decades, there has been no treatment course for managing BPDCN and its overall prognosis is poor. METHODS AND RESULTS: We report a 27-year-old man who was admitted to the hospital due to an orbital tumor as the first symptom. Progressive enlargement of the orbital tumor was accompanied by multiple purple circular nodules on the body trunk. Pathological confirmation of BPDCN after resection of the orbital mass. Bone marrow smear and flow cytometry on examination indicate AML-M5. Performance of chemotherapy and peripheral blood autologous stem cell transplantation. CONCLUSIONS: The clinical manifestations of blastic plasmacytoid dendritic cell neoplasms are diverse. The diagnosis of BPDCN can be difficult due to overlapping morphologic, immunophenotypic, and clinical features of other hematologic AML. Relapsed and refractory BPDCN remains an elusive therapeutic challenge. The future of new targeted therapeutic drugs is expected.

Extramedullary plasmacytoma of the orbit with intracranial invasion: A case report.

RATIONALE: Plasmacytoma is a disease caused by the proliferation of monoclonal immunoglobulin-producing plasma cells and divided into multiple myeloma, solitary bone plasmacytoma, and extramedullary plasmacytoma. We report a case of orbital extramedullary plasmacytoma invading the dura mater in a patient with exophthalmos and diplopia. PATIENT CONCERNS: A 35-year-old female patient with exophthalmos in the right eye and diplopia visited the clinic. DIAGNOSES: The thyroid function tests showed nonspecific results. Orbital computed tomography and magnetic resonance imaging revealed a homogeneously enhancing orbital mass infiltrating the right maxillary sinus and adjacent brain tissue in the middle cranial fossa through the superior orbital fissure. INTERVENTIONS: To diagnose and alleviate the symptoms, an excisional biopsy was performed, which revealed a plasmacytoma. OUTCOMES: One month after the surgery, the protruding symptoms and eye movement restriction in the right eye improved, and the visual acuity in the right eye was restored. LESSONS: In this case report, we present a case of an extramedullary plasmacytoma that originated in the inferior wall of the orbit and invaded the cranial cavity. To our knowledge, no previous reports have described a solitary plasmacytoma that originated in the orbit, causing exophthalmos and invading the cranial cavity at the same time.

The Isabel Differential Diagnosis Generator for Orbital Diagnosis.

PURPOSE: The Isabel differential diagnosis generator is one of the most widely known electronic diagnosis decision support tools. The authors prospectively evaluated the utility of Isabel for orbital disease differential diagnosis. METHODS: The terms "proptosis," "lid retraction," "orbit inflammation," "orbit tumour," "orbit tumor, infiltrative" and "orbital tumor, well-circumscribed" were separately input into Isabel and the results were tabulated. Then the clinical details (patient age, gender, signs, symptoms, and imaging findings) of 25 orbital cases from a textbook of orbital surgery were entered into Isabel. The top 10 differential diagnoses generated by Isabel were compared with the correct diagnosis. RESULTS: Isabel identified hyperthyroidism and Graves ophthalmopathy as the leading causes of lid retraction, but many common causes of proptosis and orbital tumors were not correctly elucidated. Of the textbook cases, Isabel correctly identified 4/25 (16%) of orbital cases as one of its top 10 differential diagnoses, and the median rank of the correct diagnosis was 6/10. Thirty-two percent of the output diagnoses were unlikely to cause orbital disease. CONCLUSION: Isabel is currently of limited value in the mainstream orbital differential diagnosis. The incorporation of anatomic localizations and imaging findings may help increase the accuracy of orbital diagnosis.

Orbital leiomyoma presenting as inverse globe retraction syndrome: a unique presentation of a rare disease.

Inverse globe retraction syndrome is a rare ocular motility disorder characterized by limited abduction, with globe retraction and up- or downshoots on attempted abduction, differentiating it from globe retraction due to Duane retraction syndrome, seen on attempted adduction. It can be congenital or acquired. We report the case of a 3-year-old girl who presented with classical features of inverse globe retraction syndrome secondary to an underlying orbital tumor involving the medial rectus muscle. Incisional biopsy confirmed the diagnosis of a leiomyoma. At 10 months' follow-up, vision, ocular alignment, and ocular motility had improved.

Superior divisional third nerve palsy due to breast cancer metastasis to the orbital apex.

PURPOSE: To report a case of breast cancer with metastasis to the orbital apex with manifestation of superior divisional third nerve palsy. CASE DESCRIPTION: A 40-year-old female, a known case of breast cancer diagnosed 3 years ago, referred to our neuro-ophthalmology clinic with chief complaint of ptosis and diplopia. In ophthalmic examination, visual acuities of both eyes were 20/20 and there was no significant finding in the anterior and posterior segment ophthalmic examination. There was left eye ptosis with MRD1 of 2 mm. In ocular movement examination, there was limitation of motion in supraduction (-2 to -3) of the left eye. Orbital MRI with contrast was requested for the patient which demonstrated a lesion in the orbital apex of the left eye. At the end, the patient was diagnosed as having superior divisional third nerve palsy. Orbital radiotherapy was recommended for the patient. CONCLUSION: In a patient with breast cancer who presents with diplopia, metastasis to the orbital apex with manifestation of divisional third nerve palsy should be kept in mind, and appropriate orbital imaging should be considered.

Endoscopic endonasal approach for resection of a recurrent spheno-orbital meningioma resulting in complete resolution of visual symptoms: A case report and review of literature.

PURPOSE: Spheno-orbital meningiomas are rare tumors, accounting for up to 9% of all intracranial meningiomas. Patients commonly present with proptosis, and visual deficits. These slow growing tumors are hard to resect due to extension into several anatomical compartments, resulting in recurrence rates as high as 35-50%. Although open surgical approaches have been historically used for resection, a handful of endoscopic approaches have been reported in recent years. We aimed to review the literature and describe a case of spheno-orbital meningioma with severe vision loss which was resected with an endoscopic endonasal approach achieving complete resolution of visual symptoms. METHODS: A systematic review of literature was conducted in accordance with the PRISMA guidelines. PubMed, Cochrane, and Web of Science databases were queried for spheno-orbital meningiomas resected via an endoscopic endonasal approach. Furthermore, the presentation, surgical management, and post-operative outcomes of a 53-year-old female with a recurrent spheno-orbital meningioma are described. RESULTS: The search yielded 26 articles, of which 8 were included, yielding 19 cases. Average age at presentation was 60.5 years (range: 44-82), and 68.4% of patients were female. More than half of the cases achieved subtotal resection. Common complications associated with endoscopic endonasal surgery included CN V2 or CN V2/V3 hypoesthesia. Following surgical intervention, visual acuity and visual field remained stable or improved in the majority of the patients. CONCLUSION: Endoscopic approaches are slowly gaining momentum for treatment of spheno-orbital meningiomas. Further studies on the clinical benefits of this approach on patient outcomes and post-operative complications is warranted.

[Tumor-induced osteomalacia caused by an orbital tumor: a case report].

A 52-year-old patient was initially diagnosed as hypophosphatemic osteomalacia in the Department of Endocrinology due to knee, foot and lumbosacral pain. The symptoms were not significantly relieved after phosphorus and vitamin D supplementation. Later, the imaging examination showed an orbital tumor in the right eye. The tumor was surgically removed, and the symptoms of systemic bone pain were relieved.

Unusual association of orbital tumour and rhino-orbital-cerebral mucormycosis.

In developing tropical countries, rhino-orbital-cerebral mucormycosis has been a cause of severe morbidity and mortality during the COVID-19 pandemic. Classically, it develops as an aggressive angioinvasive destruction of nasal, orbital and cerebral involvement. Blindness is a major disabling complication. The association of mucor in cancer is linked with immunosuppression caused by radiation and/or chemotherapy. In this case report, we tried to explore the diverse possibilities of neck swelling, nasal discharge, ocular swelling and dimness of vision in a teenage boy. Rhabdomyosarcoma is a rare tumour of the soft tissue, connective tissue or bone. This type of unusual association or coexistence of rhabdomyosarcoma with mucormycetes is rarely seen in literature.

Bilateral Enophthalmos as an Unusual Presenting Feature of Non-Hodgkin's Orbital Lymphoma.

Lymphoma is the commonest orbital malignancy. The typical presentation is proptosis or swelling, which warrants imaging and confirmation by tissue biopsy. Enophthalmos is a much rarer clinical sign and if bilateral and symmetrical can often present late. We describe a patient who presented with bilateral enophthalmos and symptomatic, secondary entropion due to bilateral non-Hodgkin's lymphoma in which orbital fat was replaced by a monoclonal proliferation of small B cells. Low-dose orbital radiotherapy and entropion surgery relieved the patient's symptoms.

Visual Outcomes in Spheno-Orbital Meningioma: A 10-Year Experience.

BACKGROUND: Spheno-orbital meningiomas (SOMs) present distinct surgical challenges because they involve important neurovascular structures, such as the orbit, cavernous sinus, superior orbital fissure, and optic canal. Resection thus focuses on maximum safe resection while preserving these neurovascular structures. Our objective was to describe our method of surgical management of SOMs and summarize visual outcomes. METHODS: A retrospective chart review was performed to identify patients who underwent surgery for SOM in 2011-2021. Demographics, preoperative visual summary, operative details, visual outcomes, and recurrence data were collected. RESULTS: The 33 patients (10 male, 23 female) had a mean age of 56 years (range 27-74 years). The mean tumor volume was 39 mL (range 4.7-220 mL). The mean follow-up period was 18 months (range 1-120 months). Thirty-two patients had preoperative radiographic evidence of proptosis (based on exophthalmos index), 23 (70%) presented with diminished visual acuity, and 10 (30%) had a concomitant visual field deficit. At last postoperative follow-up, vision was stable for 25 patients (83.3%), improved for 1 (3.3%), and worsened for 3 (10%; 2 occurring after tumor recurrence beyond 2 years). Proptosis was stable or improved in all patients. One patient had an enucleated eye. A total of 7 patients (21%) had recurrence of the tumor at 19-72 months from the operation. CONCLUSIONS: In this study, maximum safe resection, including periorbital resection, provided adequate visual and cosmetic outcomes, as well as reasonable tumor control in the long term. Rigid orbital reconstruction was not required to prevent pulsatile enophthalmos.

Genetic Alterations in Melanocytoma Associated with Oculodermal Melanocytosis: Molecular Characteristics.

Melanocytoma is a benign tumor with histologic similarity to oculodermal melanocytosis, which can undergo malignant transformation in rare cases. Melanocytoma more commonly involves the optic disc, and few cases of orbital melanocytoma have been reported. Primary orbital melanoma is a rare malignancy known to arise from pigmentary conditions, although there is little information on this tumor arising from melanocytoma. The authors present a case of malignant transformation of orbital melanocytoma in the setting of ipsilateral oculodermal melanocytosis. This case illustrates histopathologic features associated with malignant transformation and highlights the significance of GNAQ, BAP1, and specific intrachromosomal alterations occurring in oculodermal melanocytosis and melanocytoma. The molecular markers observed in this case are of interest as they have overlap with those present in uveal melanoma. This case demonstrates a timeline of genetic and molecular alterations occurring in the malignant transformation of orbital melanocytoma.

A Case of Endonasal Endoscopic Surgery for Intraorbital Metastasis of Gastric Ring Cell Carcinoma.

Gastric signet ring cell carcinoma has well-known metastatic features, including peritoneal dissemination and carcinomatous lymphangitis of the lung, but no intraorbital metastases were reported previously. A woman in her 60s developed left eye pain, sudden vision loss, and headache 12 years after gastric cancer treatment. Symptoms did not improve despite steroid pulses. Craniotomy showed no malignant findings. The patient was referred to our department for symptomatic relief and biopsy due to the lack of a definitive diagnosis and no improvement in her ocular pain. Endonasal endoscopic surgery was performed for diagnostic purposes and to relieve symptoms through orbital decompression. Preoperative computed tomography examination revealed a tumor at the left medial orbit, extending to the orbital apex. Orbital decompression through the open left medial orbital wall was performed with biopsy of the intraorbital tumor. Pathological findings were consistent with metastatic signet ring cell carcinoma. Pain and subjective improvement of visual acuity were noted the day after surgery. Twelve months postoperatively, diplopia remains, but there has been no worsening of symptoms.

Orbital metastasis from hepatocellular carcinoma revealed by sudden exophthalmos.

Orbital metastases represent a rare condition and only 33 cases of metastases from hepatocellular carcinoma (HCC), usually revealed by slowly progressive exophthalmos, have been described in the literature. A 62-year-old man affected by HCC reported a sudden left exophthalmos and amaurosis. A cranial CT scan revealed pathological tissue occupying the superior portion of the orbit. During endoscopic decompression of the optic nerve, an active venous intraorbital haemorrhage was noted. Following angiography, permanent occlusion was performed on a neoforming circulus fed by ramification of the anterior deep temporal artery, anterior ramification of the superficial temporal artery and sphenoidal ramification of the medial meningeal artery. A percutaneous incisional orbital biopsy showed features of metastatic foci of HCC. This is the first description of orbital metastasis from HCC revealed by a sudden exophthalmos.

Acute unilateral proptosis in childhood: suspect myeloid sarcoma.

As the first and only presenting feature of acute myeloid leukemia (AML), unilateral proptosis in children is uncommon. We report the cases of two girls who had no systemic clinical manifestations of AML. Orbital imaging showed space-occupying infiltrating lesions without surrounding bone erosion. Incisional biopsy and immunohistochemistry were diagnostic for myeloid sarcoma. Systemic workup and bone marrow examination showed features of AML. Systemic chemotherapy was administered to both children, who responded well to the treatment. Myeloid sarcoma should be kept in the differentials of the children presenting with isolated proptosis. Immunohistochemistry may provide an accurate diagnosis and early treatment may lead to a prompt recovery with a good prognosis.