A case of bilateral amyloidosis localized to extraocular muscles mimicking thyroid eye disease.

BACKGROUND: Amyloidosis is a rare condition characterized by the abnormal deposition of amyloid proteins in various tissues and organs. While systemic amyloidosis has been well-documented, amyloid deposition in extraocular muscles is an exceptionally rare occurrence, with only 35 reported cases. This case report sheds light on the importance of considering amyloidosis in the differential diagnosis of patients presenting with proptosis and diplopia, which are often associated with thyroid eye disease. CASE PRESENTATION: A woman in her twenties sought medical attention due to a complaint of diplopia. Her ocular examination revealed almost normal findings except for exotropia and proptosis. Orbital magnetic resonance imaging displayed fusiform enlargement of nearly all eye muscles, a presentation typically observed in thyroid eye disease. However, despite corticosteroid therapy, her symptoms showed no improvement. Given the unusual lack of response to conventional treatment, and inhomogeneous enhancement of the muscle, an extraocular muscle biopsy was conducted. This biopsy yielded a unique finding-amyloid deposition within the muscle tissue. This discovery was particularly intriguing due to the extreme rarity of amyloidosis affecting extraocular muscles, with fewer than three dozen documented cases worldwide. CONCLUSION: This unique case underscores the critical need for a comprehensive approach to diagnosing patients with proptosis and diplopia. While these symptoms are commonly attributed to thyroid eye disease, it is essential to consider alternative diagnoses such as amyloidosis, especially when standard treatments fail to yield results. The discovery of amyloid deposition in the extraocular muscles, although exceedingly rare, emphasizes the significance of a thorough differential diagnosis. In conclusion, this case report highlights the importance of vigilance in clinical practice, encouraging ophthalmologists to explore less common diagnostic possibilities when faced with challenging cases. Further research and clinical investigation are warranted to better understand the mechanisms and potential treatments for amyloidosis affecting the extraocular muscles.

Volumetric Analysis of Spheno-Orbital Meningiomas: Prognostic Correlation and a Compartmentalized Approach.

BACKGROUND AND OBJECTIVES: Spheno-orbital meningiomas arise from the arachnoid villi cap cells at the sphenoid ridge and have the ability to spread through soft tissue extension and cranial bone invasion. Owing to their orbital hyperostosis and intraorbital soft tissue extension, they commonly present with ophthalmologic manifestations. This study aims to investigate the correlation between tumor volume with the presenting symptoms and postoperative outcomes. METHODS: This retrospective study analyzed patients who underwent surgical resection of spheno-orbital meningiomas. Tumor volumes in different compartments were measured using preoperative and postoperative imaging. Linear and logistic regression analyses were used to identify correlations between tumor volumes and presenting symptoms preoperatively and postoperative outcomes. RESULTS: Sixty-six patients were included in this study, of whom 86.4% had proptosis, 80.3% had decreased visual acuity (VA), 30.3% had visual field defects, and 13.6% had periorbital edema. Preoperatively, proptosis linearly correlated with intraosseous tumor volume (coefficient = 0.6, P < .001), while the decrease in baseline VA correlated with the intraorbital tumor volume (coefficient = 0.3, P = .01). The odds of periorbital edema were found to increase with an increase in intraosseous tumor volume with an adjusted odds ratio of 1.4 (95% CI, 1.1-1.7, P = .003), while the odds of visual field defects were found to increase with an increase in intraorbital tumor volume with an adjusted odds ratio of 2.7 (95% CI, 1.3-5.6, P = .01). Postoperatively, the volume of intraosseous tumor resected linearly correlated with the improvement in proptosis (coefficient = 0.7, P < .001), while the volume of intraorbital tumor resected linearly correlated with improvement in VA (coefficient = 0.5, P < .001) and with a larger effect size in patients presenting with moderate-to-severe decrease in VA preoperatively (coefficient = 0.8). CONCLUSION: Underscoring the importance of each tumor compartment relative to the patient's symptomatology serves as a valuable guide in implementing a compartmentalized resection approach tailored to the surgical objectives.

Liver Transplantation for Zellweger Syndrome.

Zellweger syndrome or cerebrohepatorenal syndrome is a rare, multisystem disorder occurring due to defect in metabolic pathway within the peroxisomes. Cirrhosis with portal hypertension is an important presentation of these patients. Given its progressive, multisystem nature, the role of liver transplantation (LT) in Zellweger syndrome remains undefined and controversial. An 11-y-old boy diagnosed with Zellweger syndrome presented to the authors with decompensated cirrhosis along with bilateral proptosis. After a meticulous evaluation, he was offered an ABO incompatible liver transplantation with his mother being the donor. He had an uneventful post operative period. After a follow up of 24 mo, he has normal graft function, normal cognition along with resolution of proptosis. Therefore, in a group of carefully selected patients with Zellweger syndrome, a liver transplantation can be offered successfully with an excellent prognosis.

A case report of pituitary neuroendocrine tumor manifesting as severe conjunctival chemosis.

BACKGROUND: Conjunctival chemosis (CC) is an extremely rare symptom of pituitary neuroendocrine tumor (PitNET). We report an extremely rare case of PitNET manifesting as severe CC. CASE PRESENTATION: A 48-year-old male was admitted to our hospital with severe CC, proptosis, and ptosis of the right eye. Magnetic resonance imaging demonstrated the tumor mass invading the cavernous sinus (CS) with cystic lesion. The patient underwent emergent endoscopic transsphenoidal surgery, and the pathological diagnosis was PitNET. CC of the right eye remarkably improved after the surgery. Glucocorticoid therapy was performed for right oculomotor nerve palsy, which rapidly improved. The postoperative course was uneventful and the patient was discharged from our hospital without hormone replacement. CONCLUSIONS: CC caused by CS invasion of PitNET can be cured by early surgical treatment. Therefore, PitNET is important to consider in the differential diagnosis of CC.

Primary orbital yolk sac tumor in an infant: A rare entity.

We report a case of pure orbital yolk sac tumor (YST) in an 11-month-old infant, which is a rare entity. The child presented with progressive painless swelling of the right eye and on examination had proptosis, chemosis, and lid edema. Systemic examination was within normal limits. Magnetic resonance imaging (MRI) orbit revealed a lobulated heterogeneously enhancing right retroocular mass extending up to the orbital apex, displacing the optic nerve and eroding the medial orbital wall. Biopsy of the lesion revealed pure YST histology. Serum alpha-fetoprotein (AFP) was markedly raised at 76900 ng/mL. She was started on infant bleomycin etoposide cisplatin (BEP) chemotherapy protocol. There was a good clinical and radiological response. A high index of malignancy is required in young children presenting with orbital proptosis. A multidisciplinary approach and early intervention are essential to save both vision and life.

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.

Venous malformation of the conjunctiva and orbit.

A 28-year-old male presented with a large conjunctival lobulated, nonpulsatile, red vascular lesion involving a large part of the temporal quadrant of the left globe. There was no proptosis or globe displacement, but the left eye abduction was limited. T2-weighted magnetic resonance imaging scan of the brain and orbit revealed an extensive contrast-enhancing lobulated lesion in the left half of the face involving the upper lip, cheek, oral cavity, extraconal space of left orbit, and nasal cavity. He underwent surgical excision of the conjunctival lesion with amniotic membrane reconstruction.

Ophthalmologic Findings in Pediatric Erdheim-Chester Disease: A Literature Review With a Novel Case Report.

PURPOSE: The authors aim to describe the ophthalmologic manifestations of pediatric Erdheim-Chester disease (ECD). METHODS: The authors describe a novel case of ECD presenting as isolated bilateral proptosis in a child and provide a comprehensive review of the documented pediatric cases to observe overall trends and ophthalmic manifestations of disease. Twenty pediatric cases were identified in the literature. RESULTS: The mean age at presentation was 9.6 years (1.8-17 years) with a mean time of symptom presentation to diagnosis of 1.6 years (0-6 years). Nine patients (45%) had ophthalmic involvement at diagnosis, 4 who presented with ophthalmic complaints: 3 with observable proptosis and 1 with diplopia. Other ophthalmic abnormalities included eyelid findings of a maculopapular rash with central atrophy on the eyelids and bilateral xanthelasmas, neuro-ophthalmologic findings of a right hemifacial palsy accompanied by bilateral optic atrophy and diplopia, and imaging findings of orbital bone and enhancing chiasmal lesions. No intraocular involvement was described, and visual acuity was not reported in most cases. CONCLUSIONS: Ophthalmic involvement occurs in almost half of documented pediatric cases. Typically presenting with other symptoms, the case highlights that isolated exophthalmos may be the only clinical sign, and ECD should be included in the differential diagnosis of bilateral exophthalmos in children. Ophthalmologists may be the first to evaluate these patients, and a high index of suspicion and an understanding of the varied clinical, radiographic, pathologic, and molecular findings are critical for prompt diagnosis and treatment of this unusual disease.

Primary orbital yolk sac tumor presenting as fungating mass.

Primary yolk sac tumor of the orbit is a rare entity. Orbital involvement is usually seen in young children and proptosis is the commonest presentation. Aggressive orbital involvement and presentation as a fungating mass is rarely seen. We report a case of primary orbital yolk sac tumor with an aggressive presentation that responded well to systemic chemotherapy.

Systemic sarcoidosis presenting as acute rapidly progressive proptosis.

Sarcoidosis is a generalized systemic chronic inflammation that rarely involves the orbit. As a chronic inflammation, sarcoidosis typically manifests with an insidious onset and slowly progressive course. We report a case of acute-onset proptosis resulting from a rapidly growing diffuse orbital mass that simulated malignant growth, which was biopsy proven to be the first manifestation of systemic sarcoidosis. The patient demonstrated complete resolution of proptosis and systemic involvement with long-term corticosteroid treatment.

A rare case of mucoepidermoid carcinoma ex pleomorphic adenoma of the lacrimal gland.

Carcinoma ex pleomorphic adenoma (CEPA) of the lacrimal gland is a rare malignant tumor that arises from a pre-existing pleomorphic adenoma. Lacrimal gland CEPA with mucoepidermoid histological subtype is exceedingly rare. Diagnosis can be aided by radiographic findings, though the gold standard is histopathological analysis following excisional biopsy. Management options include complete surgical excision with or without adjuvant radiation therapy based on tumor grade and invasiveness. We present a 76-year-old woman with 6 months of diplopia and unilateral proptosis. Her initial exam was remarkable for hypoglobus, proptosis, and limited elevation of the right eye. Computed tomography (CT) scan demonstrated a superior, well-circumscribed, extraconal orbital mass. An excisional biopsy was performed, and histopathological findings were consistent with mucoepidermoid carcinoma ex pleomorphic adenoma with positive margins in the tumor capsule. The patient received radiation therapy and remains markedly improved with no disease recurrence at 5 months post-operatively.

GROSS TOTAL RESECTION IN A RARE CASE OF OPTIC NERVE ASTROCYTOMA: A CASE REPORT.

The authors present a 3-year-old female with increasing proptosis and absent vision in the right eye. Chemotherapy had done for 3months. But her ailments lingered. The right eye exhibited severe proptosis and poor vision, whereas the left eye was normal with 20/20 vision. Preoperative MRI revealed a dumbbell-shaped tumor in the intra-orbital and intra-cranial section of the right optic nerve. A lateral supra-orbital approach was used to dissect the dumbbell-shaped tumor and the right optic nerve. No remnant of the tumor was discovered during a follow-up examination. The case study demonstrates how to identify and treat ONA surgically. However, we need further research on optic nerve PA to gain a better understanding of their behavior. While gross total resection (GTR) is usually curative, tumors in deep locations may be unresectable and require alternative therapeutic procedures. Additionally, the case study emphasizes the importance of additional research on early detection and prevention.

MRI in the assessment of thyroid-associated orbitopathy activity.

Management of patients with thyroid-associated orbitopathy (also called Graves' disease) is dependent on the assessment of the disease activity. Evaluation of disease activity is based on ophthalmological examination. Magnetic resonance imaging (MRI) is an auxiliary method that may help quantify the activity and is also helpful in obtaining anatomical information concerning muscle thickness, exophthalmos, or optic neuropathy. We present a review of MRI techniques of the orbits with emphasis on the evaluation of disease activity. The most convincing seems to be the group of T2-weighted techniques such as conventional T2 weighting, T2 relaxometry, and T2 mapping. Dynamic contrast-enhanced MRI is another promising method.

Improvement of Orbital Intramuscular Hemangioma Following Delivery.

A 34-year-old primigravida woman at 26-week gestation presented with gradually progressive right eye proptosis since the early stage of pregnancy. On the first examination, the right eye had 7 mm proptosis, compared with the left eye. Magnetic resonance images demonstrated enlarged inferior and medial recti muscles with tendon involvement. The results of pathological examination of a specimen harvested from the medial rectus muscle lesion 1 month after the delivery corresponded to an intramuscular cavernous hemangioma. Three months after biopsy, the right eye had a 3-mm reduction in proptosis, and magnetic resonance images showed slight reduction in size of the medial rectus muscle lesion. The maximum diameter of the right medial rectus muscle measured on axial images decreased from 13.13 to 9.38 mm. The patient underwent balanced orbital decompression 8 months after the biopsy. At 9-month post-decompression period, the right eye had 3.5-mm proptosis, and the vision was stable.

Gastrointestinal stromal tumor metastatic to the orbit.

A 53-year-old woman was referred to the authors with a history of left eyelid swelling and retro-orbital pain. She had a history of a prior stomach gastrointestinal stromal tumor (GIST) with metastasis to the liver and intrahepatic bile duct. Examination showed global motility restriction with no relative afferent pupillary defect, and exophthalmometry confirmed 4 mm of left-sided proptosis. Computed tomography imaging showed a heterogeneous mass involving the left inferior rectus muscle with extension to the optic nerve measuring 32.5 mm anterior to posterior and abnormal thickening of the right inferior rectus muscle. An incisional biopsy was performed through a left inferior orbitotomy. Histopathological examination revealed an orbital mass with epithelioid morphology consistent with a metastatic GIST. Immunohistochemical analysis revealed positivity for CD-117 and Dog-1, and negativity for Myogenin. This represents the fifth biopsy-proven GIST metastatic to the orbit in the literature, only the second case with predominantly epithelioid morphology, and only the second case with bilateral orbital metastasis. The authors detail the relevant clinical history, imaging, and pathology.

Inferolateral Transorbital Endoscopic Approach for Spheno-Orbital Meningiomas.

ABSTRACT: Spheno-orbital meningiomas (SOM) are slow growing tumors that often cause proptosis and visual deficits, due to direct compression of adjacent structures or hyperostosis of surrounding bones.Traditionally, these lesions are approached via a lateral transcranial route. Recent interest in mini-invasive surgery and endoscopy brought many authors to study different trans-nasal or transorbital approaches.The authors report a surgical case series with 3 patients with proptosis due to SOM who underwent surgery in our institution via an inferolateral trans-orbital endoscopic approach. The authors described our surgical technique and the authorsretrospectively reviewed the clinical and radiological outcomes of the patients.All 3 patients had an effective orbital decompression with improvement of the proptosis and pain relief. Histological examination was possible and no intraoperative nor postoperative complications were observed.Therefore, the authors consider inferolateral trans-orbital endoscopic approach as a feasible approach for lesions involving the lateral orbit compartment arising from middle cranial fossa or from orbit itself.

Surgical Treatment of Recurrent Spheno- Orbital Meningioma.

OBJECTIVE: The extensive bone infiltration and carpet-like growth characteristics of spheno-orbital meningioma (SOM) make it hard to remove entirely, and recurrence and proptosis are the main reasons for reoperation. The authors report 20 cases of surgical treatment for recurrence of SOM, including surgical technique and symptom improvement. METHODS: The clinical data and follow-up results of 20 cases of recurrent SOM at our institution from 2000 to 2017 were retrospectively analyzed. RESULTS: All of the 20 patients with recurrence had received at least one operation before admission, with a mean age of 56 years and 70% female. The mean follow-up time was 36 months (172 months). All patients mainly showed symptoms such as proptosis and headache, and were found to be affected by supraorbital fissure during the operation. in 17 patients with recurrence, the affected sphenoid wing became tumor-like hyperplasia. Patients with extraocular muscle involvement have obvious protrusion and are often accompanied by diplopia. After surgical removal of the tumor, the symptoms of proptosis in 19 patients were significantly improved. During the follow-up, only 3 cases of proptosis recurred. After 15 patients underwent Simpson grade IV resection, 4 patients (27%) relapsed again. Five patients underwent Simpson III resection, and only 1 patient (20%) had tumor recurrence 18th months after surgery, and no proptosis recurred. CONCLUSIONS: The complete surgical removal of recurrent SOM is practically impossible. The main direction of surgical treatment should be to improve the symptoms of proptosis.

Squamous carcinoma ex pleomorphic adenoma of the lacrimal gland.

We present a very rare case of squamous cell carcinoma (SCC) ex pleomorphic adenoma of the lacrimal gland. Our patient presented with a 12 month history of painful proptosis of his left eye associated with severe headache. Imaging showed a left lacrimal gland lesion with extensive orbital disease extending into lateral and superior rectus muscles, cavernous sinus and the greater wing of the sphenoid. A lacrimal gland biopsy showed a combination of small bland glandular structures and sclerotic, elastin-containing stroma showing that the SCC had arisen on a background of a probable pleomorphic adenoma. Treatment with cisplatin and 5-Fluorouracil proved efficacious with a significant reduction of orbital and post-orbital disease on interval scanning.

"Pulsating proptosis and heavy eye syndrome precipitated by neurofibromatosis type 1: A case report".

RATIONALE: Neurofibromatosis type 1 (NF1) is a hereditary disease characterized by café-au-lait spots, peripheral neurofibromas, Lisch nodules, optic nerve glioma, and sphenoid wing dysplasia. Pulsating proptosis is associated with a sphenoid bony defect. Heavy eye syndrome is characterized by acquired esohypotropia in patients with high myopia. This study aimed to describe the presentation of pulsating proptosis and heavy eye syndrome precipitated by NF1 and its management. PATIENT CONCERNS: A 41-year-old woman presented with progressive pulsating proptosis and hypodeviation of the right eye over the past 2 years. The axial length of the right eye was 36.81 mm. The right eye presented with esohypotropia and hypoglobus. The ocular motility examination showed limitations in all directions, especially in supraduction. Brain computed tomography revealed sphenoid wing dysplasia of the right orbit. The meningocele protruded through the orbital defect, lifting the globe. Brain magnetic resonance imaging demonstrated superior rectus muscle (SR) medial displacement and lateral rectus muscle inferior displacement. Physical examination revealed café-au-lait macules and neurofibromas on the trunk. DIAGNOSIS: NF1 with pulsating proptosis and heavy eye syndrome. INTERVENTIONS: The patient declined neurosurgery due to risk and economic reasons. To manage her main concern regarding cosmetics, we performed orbital floor decompression, SR resection with advancement, maximal hang-back recession of the inferior rectus muscle, and a partial Jensen's procedure. OUTCOMES: Proptosis was reduced. The eye position became more symmetrical. The range of eye movements was also increased. LESSONS: This case describes a rare synchronous presentation of pulsating proptosis and heavy eye syndrome precipitated by NF1. Adult-onset presentation implied a progressive process in NF1. The case also showed a different etiology from that of typical heavy eye syndrome. It reminds ophthalmologists that orbital imaging should be performed in high myopia patients with strabismus to evaluate the extraocular muscle pathway. Furthermore, the case demonstrated a management that avoided the risk and expensive cost of neurosurgery, which has not been reported.