Severe Exophthalmos Research Articles

Microphthalmia with a Large Orbital Cyst: A Case Report

Purpose: We present the case of a 4-month-old boy with a large orbital cyst that caused lateral displacement of the optic nerve resulting in progressive exophthalmos of the left eye since birth.Case summary: A 4-month-old boy presented with progressive exophthalmos of the left eye since birth. Physical examination revealed marked left eye proptosis. Magnetic resonance imaging revealed microphthalmia and a 2.2 × 1.9 cm orbital cyst in the retrobulbar region. Subsequently, an anterior orbitotomy of the left eye was performed to dissect and excise the cyst. Histopathological examination revealed an orbital cyst containing neuroectodermal tissue. No complications or recurrences were observed during the 3-month post-surgery period.Conclusions: Congenital microphthalmia with orbital cysts is a rare condition that does not always require surgical intervention. However, timely surgical intervention in cases of severe exophthalmos can result in favorable functional and cosmetic outcomes. We present a case that exhibited significant improvement following surgical removal of the orbital cyst.

Enzootic bovine leukosis in a cow

Clinical History: A 5-year-old, Holstein-Friesian dairy cow was evaluated by a veterinary practitioner for a 30-day history of unilateral exophthalmos (Fig. 1). After 15 days, the cow presented lameness followed by progressive weight loss and pelvic limbs paresis, culminating in persistent sternal recumbency (Fig. 2). The superficial inguinal lymph nodes were enlarged. Due to the poor prognosis, the cow was euthanized and submitted to a postmortem examination. Gross Findings: The cow was in poor body condition with mild amounts of subcutaneous and visceral fat stores. The oral and conjunctival mucous membranes were pale. There was severe exophthalmos in the right eye, caused by a soft, homogenous, white to yellow mass (6 cm in diameter) (Fig. 3) in the retrobulbar space. Similar irregular masses were seen in the left renal pelvis, partially effacing the renal parenchyma, and in the epidural space, circumferentially surrounding the pachymeninges (extradural location) (Fig. 4) of the lumbar segment of the spinal cord. The superficial inguinal lymph nodes (supramammary) were markedly enlarged and, on the cut surface, had homogenous white to yellow discoloration and loss of the corticomedullary junction. Multifocal areas of the abomasum wall were moderately thickened and expanded by a soft, homogenous, white to yellow masses. No significant alterations were observed in other organs.

Perceptions about Graves’ Disease: A qualitative study on reports of patients in Euthyroidism and with Ophthalmopathy under a Brazilian university specialized outpatient follow-up

IntroductionKnowing mental representations about the phenomenon of illness and medical care allows the clinical team to have better emotional handling of their patients, with gains in greater adherence to treatments. Graves’ Ophthalmopathy is an inflammatory disease with primary involvement of the extraocular muscles and orbit, being the most frequent extrathyroidal manifestation of Graves’ Disease. Many patients have psychological status changes even after successful treatment of hyperthyroidism, especially when the disfiguring signs of ophthalmopathy are predominant. An understanding of the symbolic aspects linked to this condition help doctors and nurses to have a relationship more harmonious with them.ObjectivesTo interpret emotional meanings in reports of patients with euthyroidism and with ophthalmopathy under follow-up at a specialized university endocrinology outpatient follow-up, discussing contradictions perceived between a stigmatized body and clinical-laboratory euthyroidism.MethodsClinical-Qualitative design of Turato. Data was collected using Semi-directed interviews with open-ended questions in-depth, carried out with patients at a university hospital specialized outpatient service in South-eastern Brazil. The interview material was audio-recorded and fully transcribed. The interviews were treated by Clinical-Qualitative Content Analysis described by Seven Steps’ Faria-Schützer. It is based on psychodynamic concepts from the Medical Psychology theoretical framework, whose main author is Michael Balint. The sample was closed by the Theoretical Saturation of Information studied by Fontanella and cols. The finding validation has occurred by peers at the Laboratory of Clinical-Qualitative Research, State University of Campinas, San Paolo.ResultsThe sample was composed by 10 patients. From the search of nuclei of meanings in the reports, four categories of analysis were constructed: 1) “No, this is not normal, I must have cancer”: psychodynamics of the doctor-patient relationship in Graves’ Disease; 2) Types of illness according to their manifestations and auto-perception: silent illness and non-silent ones; 3) “The eyes are everything”: the impacts of the disfiguring alterations of ophthalmopathy; 4) The contradiction perception between clinical and laboratory normality the stigmas of ophthalmopathy.ConclusionsThe patients with severe exophthalmos, maintained emotional distress despite being euthyroid, manifested by various emotional meanings reported in the interviews. The clinical-laboratory diagnosis of Graves’ Disease alone is not sufficiently capable of responding to the psychological demands of the patients. Proper listening to emotional symbolic meanings attributed by patients can help physicians and nurses in handling this settingDisclosure of InterestNone Declared

Optic Canal Analysis in Syndromic Craniosynostosis: Volumetric and Surface Area Validation Study Using Different Measurement Modalities.

In syndromic craniosynostosis (SC), unlike persistent corneal irritation due to severe exophthalmos and increased intracranial pressure, optic canal (OC) stenosis has been scarcely reported to cause visual impairment. This study aimed to validate the OC volumetric and surface area measurement among SC patients. Sixteen computed tomography scan of SC patients (8 months-6 years old) were imported to Materialise Interactive Medical Image Control System (MIMICS) and Materialise 3-matics software. Three-dimensional (3D) OC models were fabricated, and linear measurements were obtained. Mathematical formulas were used for calculation of OC volume and surface area from the 3D model. The same measurements were obtained from the software and used as ground truth. Data normality was investigated before statistical analyses were performed. Wilcoxon test was used to validate differences of OC volume and surface area between 3D model and software. The mean values for OC surface area for 3D model and MIMICS software were 103.19 mm2 and 31.27 mm2, respectively, whereas the mean for OC volume for 3D model and MIMICS software were 184.37 mm2 and 147.07 mm2, respectively. Significant difference was found between OC volume (P = 0.0681) and surface area (P = 0.0002) between 3D model and software. Optic canal in SC is not a perfect conical frustum thus making 3D model measurement and mathematical formula for surface area and volume estimation not ideal. Computer software remains the best modality to gauge dimensional parameter and is useful to elucidates the relationship of OC and eye function as well as aiding intervention in SC patients.

Overcorrected Midface Advancement to Improve Airway Problems in Severe Pfeiffer Syndrome Types II and III

Treatment of patients with severe Pfeiffer syndrome types II and III is difficult. The purpose of this article is to present our method of overcorrecting midface advancement to improve airway problems in such patients. One boy and two girls with types II and III Pfeiffer syndrome and who underwent Le Fort III midface advancement using our previously described corrected cephalometric analysis and distraction system were included in the study. The authors overcorrected by advancing the midface to make it look as similar as possible to an adult face. While the overcorrected midface advancement widened the upper airway spaces in the 3 patients, the tracheostomy that had already been placed during infancy could not be closed, probably because of an underlying tracheal abnormality or tracheomalacia. Overcorrected midface advancement cannot enable tracheostomy closure, probably because of severe tracheal anomalies, such as tracheomalacia, below the tracheostomy. However, with the possibility of gradual improvement of the tracheomalacia with age, closure of the tracheostomy can eventually be expected. Therefore, efforts to close a tracheostomy should be pursued even if the probability of its removal is low. Overcorrected midface advancement did not enable tracheostomy closure, probably because of severe tracheal anomalies such as tracheomalacia. However, the severe exophthalmos and angle III malocclusion were improved, and with the possibility of gradual improvement of the tracheomalacia with age, closure of the tracheostomy can eventually be expected. Therefore, efforts to close a tracheostomy should be pursued even if the probability of its removal is low.

Prenatal diagnosis of Apert syndrome

Apert syndrome is a rare monogenic autosomal dominant disorder characterized by severe craniosynostosis, hypoplastic mediofacial structures and symmetric syndactyly of the upper and lower limbs. De novo case with Apert synclrome fetus was detected prenatally at 19–20 weeks of gestation when echography showed next pathognomic signs: an abnormal skull shape, frontal bossing, mild pachygyria, severe hypertelorism bilateral exophthalmos, deep nasal bridge, short upturned nose, prognathia, long filtrum, mild microgenia and ful syndactyly of the feet and hands. Differential diagnosis with other acrocephalosyndactyly types was performed. It is considered, that this is the earliest term of this syndrom prenatal diagnosis in a low risk pregnancies with unimpaired family history. By the parents desire this pregnancy was terminated and subsequent autopsy confirmed the diagnosis of Apert syndrome (acrocephalosyndactyly — type I) one of the hands looks like mitten the other one has the bucket shape.

Clinical manifestations of orbital lesion in granulomatosis with polyangiitis

To study the clinical course and prognosis of orbital lesions of various localization in GPA patients. Material and me-thods. The study included 226 patients with GPA, 74 of them with orbital lesion. Ophthalmic examination consisted of visual acuity test, biomicroscopy, ophthalmoscopy, exophthalmometry and ocular mobility test. Visualization was done using multislice computed tomography and/or magnetic resonance tomography and/or ultrasound examination. Among the patients of the study group, in 35.1% the lesion was limited to dacryoadenitis, in 4.0% of patients - to myositis, and 70.8% had extensive inflammatory orbital masses. Patients with orbital masses had systemic disease in 51.1%, compared to 7.7% in dacryoadenitis (p=0.00). Clinical progression in patients with orbital masses was characterized by severe exophthalmos, periorbital swelling and hyperemia. Patients with dacryoadenitis, on the contrary, had only mild symptoms. Patients with orbital masses had unfavorable prognosis. There were only three patients with myositis in the study group, so the data on them is limited; their clinical symptoms included light periorbital swelling, exophthalmos, strabismus, painful binocular diplopia and eye movement restriction. The disease was recurring in two cases. Patients with orbital involvement in GPA may have different course of the disease depending on the localization of inflammation.

Generalized lymphoma with a displacing mass in the orbital cavity of a Pacific parrotlet (Forpus coelestis)

In this case report, a 4.5-year-old Pacific parrotlet (Forpus coelestis) with a generalized hematopoietic neoplasia is described. The patient was presented with severe unilateral exophthalmos of the right eye and a poor general health condition. Neither in the general nor the ophthalmologic, nor the subsequent microbiological and mycological examination signs of infection were detected, and molecular tests for Chlamydia psittaci were negative. As the bird’s condition decreased despite intensive care treatment, euthanasia was performed. Postmortem examination revealed a large, space-occupying, bloody mass in the right orbita, displacing the globe. The calvaria seemed to be involved as well as the Paries dorsalis and Paries caudalis of the orbita. Histopathology identified tumor cells in the liver, the spleen, the kidneys, the right eye, and the surrounding orbita, indicating a generalized lymphoma as underlying cause. Immunohistochemical analysis confirmed the swelling to be of B-cell origin. This case report demonstrates that neoplasms should be included in the list of differentials for exophthalmos in psittacines. Moreover, diagnostic options to work off an exophthalmos are described with a special focus on hematopoietic neoplasms in psittacines.

Salvage Approaches for Maintaining the Eye Globe in a Glaucomatous Patient with Severe Unilateral Exophthalmos

An eight-year-old Shih-Tzu dog was referred to Kyungpook National University Veterinary Medical Teaching Hospital because of severe glaucoma and exophthalmos. The symptoms included severe buphthalmos, conjunctival hyperemia, focal dried cornea and discomfort in the affected eye. Although enucleation was considered as a potential intervention measure in light of the severity of symptoms, it was possible to save the globe and relieve symptoms through evisceration, intraocular prosthesis implantation, and lateral canthoplasty. Our experience with this case suggests that symptomatic salvage therapy, rather than enucleation, is an appropriate approach for resolution of exopthalmos and other complications associated with glaucoma surgery.

Variable Expressivity and Clinical Heterogeneity Can Complicate the Diagnosis and Management of Pfeiffer Syndrome

We report here a newborn female infant with striking features consistent with severe Pfeiffer syndrome (PS). Pfeiffer syndrome is a rare craniofacial disorder that has an autosomal dominant mode of inheritance (OMIM 101600). Our patient had unexpected differences between her clinical features and those predicted from her genetic tests. The following clinical features were noted: severe exophthalmos, syndactyly, upper extremity contractures, and relative macroglossia. A head computed tomography with three-dimensional reconstruction showed that she did not have craniosynostosis. Genetic tests included a normal 46,XX karyotype and a chromosomal microarray that revealed a copy number gain at 14q23.1 as well as a copy number loss at 16p13.2. FGFR2 sequencing revealed a c.870G>T transversion in exon 8, which is predicted to encode a Trp290Cys substitution.The clinical features of severe exophthalmos and other features typical of PS without craniosynostosis were most consistent with a diagnosis of PS type III. However, her Trp290Cys FGFR2 mutation is reported to be associated with PS type II that includes kleeblatschädel (or "cloverleaf") skull anomalies as a cardinal feature. Our patient's lack of craniosynostosis predicted from this mutation is a striking example of variable expressivity. Such discrepancies between the physical findings (phenotype) and the mutation identified (genotype) and the association of different findings with different mutations in the same gene (clinical heterogeneity) can present difficulties in case management. Clinicians should be guided by careful phenotyping rather than by genotypic predictions alone.

CT features of exophthalmos in Chinese subjects with thyroid-associated ophthalmopathy.

: To investigate computed tomography (CT) features of exophthalmos in Chinese subjects with thyroid-associated ophthalmopathy (TAO). A total of 605 eyes of 325 patients with exophthalmos due to TAO were classified as grade I (mild exophthalmos) or II (severe exophthalmos) based on orbital CT imaging. The increased orbital volume features, such as changes from extraocular muscles, orbital fat, or both, were analyzed. A total of 605 eyes were analyzed, among them 62.98% presented grade I exophthalmos, while 36.02% showed grade II exophthalmos. In grade I, 56.69% showed orbital fat change, and in grade II, 89.29% exhibited extraocular muscle enlargement. Orbital fat and extraocular muscle enlargement are likely to be observed on CTs of subjects with mild and severe exophthalmos, respectively. Our results suggest that CT findings may guide TAO clinical therapy recommendations and prognosis.

Hand-Schüller-Christian Disease and Erdheim-Chester Disease: Coexistence and Discrepancy

Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) share similar clinical features and mechanisms. In very rare circumstances, the two diseases coexist in the same patient. Here we report such a patient, who was first diagnosed with Hand-Schüller-Christian disease (HSC), a type of LCH. Several years later, the patient presented with severe exophthalmos and osteosclerosis on radiograph. New biopsy revealed ECD. We also analyze 54 cases of LCH and 6 cases of ECD diagnosed in our hospital, as well as their progression during a follow-up period of 8 years. In five cases of HSC (9.3% of LCH), a triad of central diabetes insipidus, hyperprolactinemia, and pituitary stalk thickening on magnetic resonance imaging (MRI) preceded the typical bone lesions by 4-9 years. In addition, LCH was featured as elevated plasma alkaline phosphatase (ALP), which was normal in ECD. Combined with a literature review, several features are summarized to differentiate ECD from HSC. In patients with diabetes insipidus, concomitant hyperprolactinemia and pituitary stalk thickening on MRI indicate a possible HSC. Additionally, if osteosclerosis is observed in a patient with LCH, the coexistence of ECD should be considered.

Orbital metastases in colorectal cancer: a case report

Clinical caseA 32-year-old male, with colon cancer stage IV, resistant to chemotherapy, was referred to our department due to palpebral edema, conjunctival chemosis, severe exophthalmos, complete ptosis in left eye, and limitation in eye movements, mainly in abduction and supraversion. In the orbital MR scan we observed two nodular lesions in the left orbital, with involvement of the superior rectus-elevator muscle of upper eyelid complex and external rectus muscle, suggestive of metastases. Generally, as the patient was not feeling well, radiotherapy was not considered, and an intravenous bolus of corticoids was given, without response, resulting in the death of the patient. DiscussionOrbital metastases usually originate from breast and lung cancer, with those secondary to colon cancer being much less frequent. The treatment is palliative, based on intravenous corticoids, and, above all, radiotherapy, and, only in cases with a long-term survival, surgery.

Metástasis orbitarias en carcinoma colorrectal: a propósito de un caso

Clinical caseA 32-year-old male, with colon cancer stage IV, resistant to chemotherapy, was referred to our department due to palpebral oedema, conjunctival chemosis, severe exophthalmos, complete ptosis in left eye, and limitation in eye movements, mainly in abduction and supraversion. In the orbital MR scan we observed two nodular lesions in the left orbital, with involvement of the superior rectus-elevator muscle of upper eyelid complex and external rectus muscle, suggestive of metastases. Due to the patient generally feeling unwell, radiotherapy was not considered, and an intravenous bolus of corticoids was given, without response, resulting in the death of the patient. DiscussionOrbital metastases usually originate from breast and lung cancer, with those secondary to colon cancer being much less frequent. The treatment is palliative, based on intravenous corticoids, and, above all, radiotherapy, and, only in cases with a long-term survival, surgery.

TWO RARE CASES OF NEOPLASMS OF THE NOSE AND PARANASAL SINUSES

Purpose: To present the diagnostic approach and treatment of two rare neoplasms, hemangiopericytoma and hemangioleiomyoma, treated in the ENT Dept. of Chania General Hospital. description of the cases: A female, 65 years old, with severe nasal congestion, diplopia and exophthalmos and an 82 years old male with unilateral, recurrent, moderate epistaxis were admitted in the ENT Dept. In both cases assessment included full ENT examination, laboratory tests and imaging with CT and MRI scans. For the first patient, due to extension of the lesion in the right maxillary sinus and orbit, excision biopsy with combined Caldwell-Luc and endoscopic approach was decided. Five months after initial intervention she had local recurrence and distance metastasis and underwent adjuvant chemotherapy. She is on follow up without any indication of expansion of the preexisting disease. For the second patient, specimen from the lesion in the left nostril was sent for histology and he denied any further intervention. The patient is on regular follow up without any change from the initial diagnosis. Conclusion: While clinical examination raises the suspicion, diagnosis is confirmed by histology, and extent of disease is evaluated with CT-MRI scans. Imaging should precede biopsy because of high vascularity of these tumors. Appropriate treatment is extensive removal of the lesion. keywords: hemangiopericytoma, hemangioleiomyoma, nose-paranasal sinuses.

A Pitfall of Decompression for Severe Exophthalmos

This report addresses a pitfall of decompression for severe exophthalmos. In mild cases, removal of the orbital floor is an effective treatment, but in severe cases, the results of this approach are sometimes unsatisfactory, and only decompression is necessary. In these cases, orbital decompression in 3 areas including the medial wall, the lateral wall, and the orbital floor is usually performed. A 5.0-mm mean reduction in exophthalmos is observed, but more reduction is difficult to achieve.We considered the possibility that removal of the posterior wall of the maxillary sinus is critically important to achieving greater recovery. It is proposed that this technique is effective in creating about 10 mm of improvement for severe exophthalmos.

Feasibility of tomotherapy for Graves’ ophthalmopathy

To compare the dosimetry of tomotherapy and the conventional half-beam technique (HBT) or non-split beam technique (NSBT) for target coverage and radiation dose to the lacrimal glands and lens. A retrospective review of 7 patients with Graves' ophthalmopathy who had radiotherapy because of disease progression on high steroid dose is reported: 3 patients were treated with tomotherapy and 4 patients with HBT. Compared to HBT, tomotherapy may provide better target coverage and significant reduction of radiation dose to the lacrimal glands and a higher dose to the lens. The NSBT improved target coverage but resulted in significantly higher doses to the lens and lacrimal glands. Tomotherapy may provide better coverage of the target volume and may be more effective in reducing severe exophthalmos compared to the conventional radiotherapy technique.

Acute severe exophthalmos in an infant with orbital capillary hemangioma

Acute severe exophthalmos in an infant with orbital capillary hemangioma

Teratogenic effects of carbamazepine on embryonic eye development in pregnant mice

Background: Carbamazepine is an antiepileptic drug used widely for the treatment of epileptic seizures and neuropathic pain. Several malformations in humans, mainly neural tube defects, have been reported as a consequence of its use during pregnancy. The association between maternal use of carbamazepine and congenital eye malformations is not very well understood.Objective: The purpose of this study was to examine this association after intraperitoneal injection of carbamazepine during the period of organogenesis in mice.Methods: Balb/c timed-pregnant mice were divided into 4 experimental and control groups. Two experimental groups received daily intraperitoneal injections of 15 mg/kg (group I) or 30 mg/kg (group II) of carbamazepine on gestational days 6 to 15. Two control groups received normal saline or Tween 20 (polysorbate 20). Dams underwent Cesarean section on gestational day 18 and embryos were harvested. External examination for eye malformations, routine histological processing of malformed fetuses to study eye morphology, and skeletal staining were performed.Results: The mean weight and crown-rump of the fetuses in both experimental groups were significantly reduced compared with those of the control groups. Various malformations were detected such as brachygnathia, calvarial deformity, vertebral deformity, short tail, and brachydactyly. Premature opening of one or both eyes with mild to severe exophthalmos occurred in the 2 experimental groups. Deformed lens, retinal folds with undeveloped layers, and corneal folds with absence of surface epithelium were detected in both experimental groups.Conclusions: This study, to the best of our knowledge, showed for the first time that intraperitoneal administration of carbamazepine at clinically comparable doses during organogenesis can induce several eye malformations in mice. The implication of these results needs to be considered when carbamazepine is administered during human pregnancy.

Severe exophthalmos in trigeminal plexiform neurofibroma involving the orbit and the infratemporal fossa

Trigeminal plexiform neurofibromas involving the orbit and the infratemporal fossa are rare tumours. An uncommon case of a plexiform neurofibroma of the trigeminal nerve occurring in a 53-year-old female patient with severe cosmetic deformity is reported. The clinical findings, neuroradiographic features, surgical management, postoperative results and follow-up of trigeminal plexiform neurofibromas are reviewed.