RESUMO
Rhabdomyoma of the orbit is a rare tumor with very few cases reported in the literature. We herein describe a 5-year-old boy who presented to us with a deviation of his left eye. Magnetic Resonance Imaging (MRI) showed a well-defined homogeneous intraconal mass in the superomedial aspect compressing the optic nerve. An excision biopsy was performed and the diagnosis of rhabdomyoma was confirmed on histopathology and immunohistochemistry with a coincidental finding of Trichinella spiralis larvae within the excised specimen. We report this phenomenon in two rare diseases with a predilection for striated muscle occurring simultaneously in a single patient.
Assuntos
Imageamento por Ressonância Magnética , Neoplasias Orbitárias , Rabdomioma , Triquinelose , Humanos , Masculino , Rabdomioma/cirurgia , Rabdomioma/diagnóstico , Rabdomioma/diagnóstico por imagem , Triquinelose/diagnóstico , Pré-Escolar , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/patologia , Neoplasias Orbitárias/cirurgia , Neoplasias Orbitárias/diagnóstico , Animais , Trichinella spiralis/isolamento & purificação , Infecções Oculares Parasitárias/diagnóstico , Infecções Oculares Parasitárias/cirurgia , Infecções Oculares Parasitárias/parasitologiaRESUMO
PURPOSE: To evaluate the efficacy of intermittent manual carotid compression (IMCC) in the management of low-flow carotid cavernous fistulae (CCF). MATERIALS AND METHODS: Patients diagnosed with low-flow CCF and treated with IMCC over a period of 13 years were retrospectively analyzed. Data analyzed included demographic details, clinical features, type of CCF, and response to therapy. Outcomes were categorized as complete cure, partial cure, and no cure or worsening. Patients with complete and partial cure were grouped as good outcome whereas those with no cure or worsening as poor outcome. RESULTS: A total of 44 patients were advised IMCC for low-flow CCF, of whom five were lost to follow-up. Results of the remaining 39 patients were analyzed, of whom 21 (53.8%) were males. The mean age at presentation was 54.38 ± 14.54 years. The median duration between the onset of symptoms and presentation was 5.0 ± 4.10 months. The common presenting features were episcleral congestion and proptosis (89.7%), extraocular motility restriction (66.7%), and diplopia (48.7%). Most common CCF type was type D (34, 87.2%). All patients were advised to undergo IMCC. Good outcome was seen in 35 patients (89.7%, 95% CI: 80.2% to 99.2%), whereas poor outcome was seen in four (10.3%) patients. The mean duration of follow-up was 15.91 ± 21.87 months. CONCLUSION: The present study found a good outcome with IMCC in 89.7% cases of indirect low-flow CCF with no major complications. It should be considered the management of choice in patients who are systemically unfit or cannot afford endovascular embolization.
Assuntos
Fístula Carótido-Cavernosa , Embolização Terapêutica , Exoftalmia , Malformações Vasculares , Masculino , Humanos , Adulto , Pessoa de Meia-Idade , Idoso , Feminino , Fístula Carótido-Cavernosa/diagnóstico por imagem , Fístula Carótido-Cavernosa/terapia , Estudos Retrospectivos , Resultado do Tratamento , Exoftalmia/etiologia , Diplopia/etiologia , Embolização Terapêutica/métodos , Malformações Vasculares/etiologiaRESUMO
PURPOSE: To compare the results between tarsofrontalis sling (TFS) and levator palpebrae superioris (LPS) excision with TFS in cases of ptosis with Marcus Gunn jaw winking syndrome (MGJWS). METHOD: A retrospective review of records of all patients undergoing either TFS (group A) or LPS excision along with TFS (group B) in cases of ptosis with MGJWS was done over the past 10 years and their results were compared. RESULTS: The study included 73 patients (75 eyes). There were 36 patients (36 eyes) in group A and 37 patients (39 eyes) in group B. There was a significant reduction in the excursion due to MGJWS from 4.7 ± 1.49 to 1.91 ± 1.04 mm in group A (p = .001) and 4.65 ± 1.34 to 1.79 ± 0.98 mm in group B (p < .05). The reduction in excursion due to MGJWS and lagophthalmos were comparable in both groups. The mean follow-up in group A was 5.62 ± 6.94 (Range: 1-24) months and group B was 19.15 ± 29.16 (Range: 1-96) months (p = .01). CONCLUSION: Both TFS and LPS excision with TFS is equally effective in dampening the eyelid excursion in MGJWS. Tarsofrontalis sling is a safe, easy and effective technique for MGJWS with lesser complication.
Assuntos
Blefaroptose , Cardiopatias Congênitas , Humanos , Blefaroptose/cirurgia , Pálpebras/cirurgia , Cardiopatias Congênitas/cirurgia , Músculos Oculomotores/cirurgiaRESUMO
Burkitt lymphoma (BL) is an aggressive, rapidly growing B-cell non-Hodgkin lymphoma found predominantly in children and has three clinical subtypes. The sporadic subtype, seen in non-endemic areas, typically presents as an abdominal mass. Primary orbital involvement is rarely reported. We report two cases of sporadic orbital BL manifesting as unilateral rapidly progressive proptosis with orbit being the initial site of presentation. Following an incision biopsy, BL was confirmed on histopathology and immunohistochemistry. Both patients demonstrated a remarkable improvement with systemic chemotherapy. Burkitt lymphomas grow rapidly with the potential for vision loss. Albeit rare, clinicians should be aware of this entity as timely diagnosis and initiation with chemotherapy display a dramatic response.
Assuntos
Linfoma de Burkitt , Exoftalmia , Criança , Humanos , Linfoma de Burkitt/diagnóstico por imagem , Linfoma de Burkitt/tratamento farmacológico , Órbita/patologia , Exoftalmia/diagnóstico , Biópsia , Imuno-HistoquímicaRESUMO
PURPOSE: To study the risk factors for development of COVID-19 associated rhino-orbital-cerebral mucormycosis (ROCM) during the COVID-19 pandemic in India. METHODS: Multi-centric retrospective case-control study conducted from October 2020 to May 2021. Cases comprised of consecutive patients of COVID-19-associated ROCM (CA-ROCM) presenting at the participating ophthalmic institutes. Controls comprised of COVID-19-positive or COVID-19-recovered patients who did not develop ROCM. Comparative analysis of demographic, COVID-19 infection, treatment parameters and vaccination status between cases and controls performed. Clinical and imaging features of CA-ROCM analyzed. RESULTS: There were 179 cases and 361 controls. Mean age of presentation in cases was 52.06 years (p = .001) with male predominance (69.83%, p = .000011). Active COVID-19 infection at the time of presentation of ROCM (57.54%, p < .0001), moderate to severe COVID-19 (p < .0001), steroid administration (OR 3.63, p < .00001), uncontrolled diabetes (OR 32.83, p < .00001), random blood sugar >178 mg/dl were associated with development of CA-ROCM. Vaccination showed a protective effect (p = .0049). In cases with intracranial or cavernous sinus extension there was history of steroid administration (OR 2.89, p = .024) and orbital apex involvement on imaging (OR 6.202, p = .000037) compared to those with only rhino-orbital disease. CONCLUSION: Male gender, active COVID-19 infection, moderate or severe COVID-19, uncontrolled diabetes, steroid administration during COVID-19 treatment are risk factors for developing rhino-orbital-cerebral mucormycosis. Vaccination is protective. Random blood sugar of >178 mg/dl in COVID-19 positive or recovered patients should warrant close observation and early detection of ROCM. Presence of ophthalmoplegia, blepharoptosis at first clinical presentation and orbital apex involvement on imaging are associated with intracranial extension in ROCM.
Assuntos
COVID-19 , Oftalmopatias , Mucormicose , Doenças Orbitárias , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Pandemias , Glicemia , Tratamento Farmacológico da COVID-19 , Estudos de Casos e Controles , Mucormicose/epidemiologia , Estudos Retrospectivos , COVID-19/epidemiologia , Fatores de Risco , Doenças Orbitárias/diagnóstico por imagem , Doenças Orbitárias/epidemiologia , Índia/epidemiologia , EsteroidesRESUMO
PURPOSE: Fractures of the infraorbital rim (IOR) are often undertreated with a resultant compromise of facial esthetics and function. The purpose of this research was to identify types of IOR fractures related clinical findings and assess post-treatment outcomes. METHODS: A retrospective cohort study was implemented involving all patients treated for IOR fractures during an 18-month period. Data consisted of treatment records, pretreatment and post-treatment photographs, and computed tomographic (CT) scans. The types of fractures were matched to the treatment instituted. The type of fracture was the independent variable, while the dependent variables were (i) clinical findings such as lid and globe malposition, tethering of facial skin, diplopia, and infraorbital nerve paresthesia, and (ii) treatment outcome assessed by surgeon and patient. Data were analyzed statistically to study frequencies, proportions, and associations using SPSS (v26, IBM, Armonk, NY). RESULTS: Forty-three patients (41 males and 2 females) with IOR fractures were treated between July 2019 and January 2021. The age range was 18 to 50 years. The etiology for trauma in all patients was a motor vehicle accident. Fifty-one fractures were classified into 6 types based on CT presentation. The single line fracture (concomitant with other bones) was the most prevalent (58.8%), while globe malposition was the most common clinical finding (35.8%). Lid malposition, globe malposition, and tethering of facial skin were associated with the type of IOR fracture (P = .04, P = .02, and P = .01, respectively). Excellent outcomes were scored in 32 and 25 fractures by the surgeon and patients, respectively, (P = .015 and P = .003). The inter-rater agreement between the surgeon and patient was significant (Kappa = 0.680; P < .001). CONCLUSIONS: Clinical findings in IOR fractures are dependent on the fracture type. Treatment of fractures based on their CT presentation produces effective management of signs/symptoms and improved treatment outcomes.
Assuntos
Fraturas Orbitárias , Adolescente , Adulto , Diplopia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fraturas Orbitárias/diagnóstico por imagem , Fraturas Orbitárias/cirurgia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento , Adulto JovemRESUMO
PURPOSE: To report the epidemiology, histopathological spectrum, and surgical outcomes of peripunctal mass lesions. METHODS: Multicentric retrospective case series involving 6 centers in India. All cases of peripunctal masses with histopathological diagnoses and minimum follow up of 3 months were included. Demographic data, clinical photographs, objective assessments of clinical improvement were assessed before and after treatment. RESULTS: A total of 50 patients were included. The mean age was 46.4 years (range: 12-76 years). The mean duration of complaints was 27.4 months (range: 1-120 months) and mean follow-up period after surgery was 15.8 months (range: 3-120 months). The most common presenting complaints were a mass lesion/cosmetic concern (82%), followed by epiphora (48%) and foreign body sensation (16%). The most common lesion was melanocytic nevus (19/50; 38%), followed by squamous papilloma (8/50; 16%), hidrocystoma (7/50; 14%), and epidermoid cyst (7/50; 14%). Three cases of malignant tumors were diagnosed: 2 cases of sebaceous gland carcinoma and 1 case of squamous cell carcinoma. In all, 21 of 50 (42%) cases underwent excision with the placement of a Mini-Monoka stent, whereas the remaining 29 cases underwent only excision. At final follow up, a healed punctal opening was visible in 46 of 50 (92%) of the cases; 2 (4%) cases had a slit-like punctum and in 1 case (2%), a stenosed punctum was visible. However, only 1 case (2%) reported epiphora at follow up. CONCLUSIONS: Peripunctal masses are largely benign and present most commonly on the lower eyelid. Melanocytic nevus is the most common peripunctal mass lesion. In the series, stent placement did not play a significant role in the functional outcome.
Assuntos
Neoplasias Palpebrais , Doenças do Aparelho Lacrimal , Nevo Pigmentado , Neoplasias das Glândulas Sebáceas , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Adolescente , Adulto , Idoso , Criança , Neoplasias Palpebrais/patologia , Humanos , Doenças do Aparelho Lacrimal/diagnóstico , Doenças do Aparelho Lacrimal/cirurgia , Pessoa de Meia-Idade , Nevo Pigmentado/patologia , Nevo Pigmentado/cirurgia , Estudos Retrospectivos , Neoplasias das Glândulas Sebáceas/patologia , Neoplasias Cutâneas/patologia , Resultado do Tratamento , Adulto JovemRESUMO
PURPOSE: Orbital abscesses in children are not uncommon. Unless managed in a timely fashion, they can potentially lead to vision-threatening as well as life-threatening complications. The objective of this study is to report the clinical and microbiological profile and management outcomes in infants presenting with orbital abscesses. MATERIALS AND METHODS: A retrospective review of electronic medical records of children younger than 1 year with a diagnosis of an orbital abscess was done. The data was collected from a time period of 12 years (2007-2019). The data collected included mode of presentation, radiological, microbiological and histopathological features, and the final outcome. RESULTS: A total of nine patients met the inclusion criteria. The mean age at presentation was 19 weeks. Three patients had upper respiratory tract infection, one had a congenital nasolacrimal duct obstruction, two had sinusitis, and one patient had neonatal sepsis. All patients underwent imaging following which abscess drainage was performed. Methicillin-sensitive Staphylococcus aureus was the most common organism, which was isolated in five patients, Methicillin-resistant S. aureus was isolated in three, while one patient had Entomophthorales fungal infection. The median follow-up period was 10 months (range 5 days to 89 months). There was no recurrence in the cohort. At least one patient had visual impairment at the last follow up. CONCLUSION: Orbital abscesses in infants are rare. Imaging and prompt drainage of the abscess supplemented by appropriate antimicrobial regimen leads to a successful outcome.
Assuntos
Obstrução dos Ductos Lacrimais , Staphylococcus aureus Resistente à Meticilina , Ducto Nasolacrimal , Celulite Orbitária , Abscesso/diagnóstico por imagem , Abscesso/tratamento farmacológico , Antibacterianos/uso terapêutico , Criança , Drenagem/métodos , Humanos , Lactente , Recém-Nascido , Obstrução dos Ductos Lacrimais/complicações , Celulite Orbitária/diagnóstico , Estudos RetrospectivosRESUMO
PURPOSE: To report the clinical profile and management outcomes of a series of cases of malignant tumors of the lacrimal drainage system (LDS). MATERIALS AND METHODS: A retrospective analysis of all cases diagnosed with LDS malignancy over the past 24 years (1995-2019) was done. Patient characteristics, tumor types, management, and outcomes were analyzed. RESULTS: A total of 14 patients were included. Thirteen cases were of primary malignancy, while one was a secondary lesion. The mean age was 42.5 years, with males and females being equally affected. A medial canthal mass was the most common (9, 64.2%) presentation. Six patients (42.8%) had undergone one or more dacryocystorhinostomy surgeries for nasolacrimal duct obstruction before presentation. Seven patients underwent wide local excision (50%) while 3 (21.4%) each underwent dacryocystectomy and exenteration. Adjuvant radiation was administered to 4 (28.5%) patients. Thirteen (92.8%) patients were diagnosed with epithelial malignancy while one (7.1%) was a case of small B cell lymphoma. Transitional cell carcinoma was the most common epithelial malignancy (4, 28.5%). Three (21.4%) patients had metastatic disease (2 lymph nodes and one angle of jaw). There was no mortality after a mean follow up of 40.7+_25.1 months (Median 26; Range 4-131). CONCLUSION: LDS malignancy is rare, with the epithelial variant being far more common than non-epithelial. Wide local excision with adjuvant radiotherapy is the preferred management. Long-term follow-up is essential to manage recurrences and to increase survival.
Assuntos
Carcinoma de Células de Transição , Dacriocistorinostomia , Doenças do Aparelho Lacrimal , Aparelho Lacrimal , Obstrução dos Ductos Lacrimais , Linfoma de Células B , Ducto Nasolacrimal , Adulto , Feminino , Humanos , Aparelho Lacrimal/patologia , Doenças do Aparelho Lacrimal/diagnóstico , Doenças do Aparelho Lacrimal/cirurgia , Obstrução dos Ductos Lacrimais/diagnóstico , Masculino , Ducto Nasolacrimal/patologia , Ducto Nasolacrimal/cirurgia , Estudos RetrospectivosRESUMO
A 28-year-old male presented with gradually progressive swelling of the right lower eyelid along with a prominence of the eye for 6 months. He had received oral steroids and intraorbital triamcinolone acetonide injection in the inferior quadrant for active thyroid eye disease. External examination revealed right eye proptosis and swelling along the inferior orbital region. Magnetic resonance imaging showed an ill-defined soft tissue lesion in the inferior extraconal space and a bulky right inferior rectus. Histopathology of the biopsied material revealed inflammation with septate fungal filaments, identified as Aspergillus flavus on culture. He responded well to oral voriconazole despite a recurrence during the course of treatment. Intraorbital steroids are given for idiopathic and thyroid-associated orbital inflammation. This is a report of a rare complication of fungal orbital abscess following intraorbital corticosteroid injection in an immunocompetent young patient.
Assuntos
Abscesso , Celulite Orbitária , Abscesso/diagnóstico por imagem , Abscesso/tratamento farmacológico , Adulto , Edema , Glucocorticoides/uso terapêutico , Humanos , Imageamento por Ressonância Magnética , Masculino , Voriconazol/uso terapêuticoRESUMO
PURPOSE: To study the clinical, microbiological profile and management outcomes of orbital abscess at a tertiary care center in South India. MATERIAL AND METHOD: In a retrospective interventional case series, we reviewed all patients diagnosed with orbital cellulitis from 2000-2020. The data analyzed included demographic profile, clinical and radiological features, microbiological profile, and management outcome. RESULTS: A total of 921 cases of orbital and periorbital infections were reviewed. Seventy-two cases were diagnosed as orbital cellulitis. Thirty-four cases (47.22%) had radiological evidence of orbital abscess. The median age was 20.63 years. Three patients (8.82%) were neonates. A male preponderance was noted (23, 67.65%). Sinusitis (10, 29.41%) and diabetes (5, 14.7%), were the most common predisposing factors. Optic neuropathy was seen in 15 (44.11%) patients, cavernous sinus thrombosis in two patients (5.88%), and septicemia in one patient (2.94%) Multiple orbital abscesses were noted in 7 (20.59%) cases. All patients underwent surgical drainage. Methicillin-sensitive Staphylococcus aureus was the most common organism isolated in 14 patients (41.18%). Vision improvement or stabilization was seen in all except 3 (8.82%). CONCLUSION: Orbital abscess is a potential sight-threatening orbital infection. The infective process can spread and ascend up to involve cavernous sinus thereby becoming life-threatening. A timely diagnosis and intervention can halt the disease process and help restore vision in many cases.
Assuntos
Celulite Orbitária , Doenças Orbitárias , Recém-Nascido , Humanos , Masculino , Adulto Jovem , Adulto , Celulite Orbitária/diagnóstico por imagem , Celulite Orbitária/epidemiologia , Abscesso/diagnóstico por imagem , Abscesso/terapia , Centros de Atenção Terciária , Estudos Retrospectivos , Antibacterianos/uso terapêutico , Doenças Orbitárias/diagnóstico por imagem , Doenças Orbitárias/epidemiologiaRESUMO
AIM: To describe the clinical and radiological features of orbital cysticercosis and its management outcome. MATERIAL AND METHOD: A retrospective analysis of consecutive cases of orbital cysticercosis between January 2008 and January 2018. The management outcome was classified into good, fair, and poor depending upon the resolution of the clinical features and status of the cyst and scolex in the imaging studies. RESULTS: A total of 61 patients with a mean age of 24.33± 31.04 years were included. The male: female ratio was 1.9:1. Pain, with or without prominence of the eye was the most common presenting symptom (n = 35, 57.4%). The mean duration of symptoms was 3.65 +/-8.56 months. Ocular motility restriction was the most common sign (n = 52, 85.2%). Fifty-five (90.16%) patients had myocysticercosis with inferior rectus being most commonly involved (n = 17, 27.9%), while 6 (9.83%) cases had orbital cysticercosis without any ocular muscle involvement. Four patients had compressive optic neuropathy. Subjectively, good clinical outcome was documented in 37 (60.65%), fair in 17 (27.87%) and poor in 7 (11.47%) patients. Objectively, imaging studies showed complete resolution of the cysticercosis lesion in 18 (45%), partial in 19 (47.5%), and no change in 3 (7.5%) patients. CONCLUSION: A high index of suspicion and a thorough knowledge of the clinical and radiological features are necessary for the proper diagnosis and management of orbital cysticercosis. Medical management with oral albendazole combined with oral steroids leads to desired outcome in the majority.
Assuntos
Cisticercose , Infecções Oculares Parasitárias , Adulto , Albendazol/uso terapêutico , Cisticercose/diagnóstico , Cisticercose/tratamento farmacológico , Infecções Oculares Parasitárias/diagnóstico , Infecções Oculares Parasitárias/tratamento farmacológico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Músculos Oculomotores , Estudos Retrospectivos , Adulto JovemRESUMO
PURPOSE: To report 5 cases of superior ophthalmic vein thrombosis (SOVT) following intermittent manual carotid compression (IMCC) for indirect carotid-cavernous fistula (CCF) and to outline the management. METHODS: Retrospective observational case series of all patients who developed SOVT secondary to IMCC for indirect low flow CCF's at a tertiary care center. The demographic profile, clinical, imaging findings, treatment, and outcomes were studied. RESULTS: The mean age at presentation was 60.2 years (Range: 42-87 years). Four patients were male. All patients had a unilateral presentation. The mean time interval between starting IMCC and the development of SOVT was 1.18 months (Range: 0.25-3 months). Acute exacerbation of proptosis and chemosis associated with a decrease in vision was the presenting feature in all the patients. The mean visual acuity at presentation was 0.89 on the logMAR scale. The causes of reduced visual acuity were venous stasis retinopathy (n = 4) and compressive optic neuropathy (n = 1). Magnetic resonance imaging revealed enlarged superior ophthalmic vein with absent flow voids and post-contrast filling defects. Four patients received anticoagulation treatment with subcutaneous injection of enoxaparin 1 mg/kg twice daily for 5 days followed by oral warfarin 5 mg once daily along with oral steroids. Complete recovery of SOVT was noted in all patients at a mean duration of treatment of 0. 75 months (Range: 0-2 months). CONCLUSION: SOVT is a rare but possible complication in patients on IMCC for indirect CCF, and hence warrants close follow up. Early diagnosis and prompt management will help in preventing complications like permanent vision loss.
Assuntos
Fístula Carótido-Cavernosa , Seio Cavernoso , Embolização Terapêutica , Exoftalmia , Fístula , Trombose , Fístula Carótido-Cavernosa/diagnóstico por imagem , Fístula Carótido-Cavernosa/etiologia , Fístula Carótido-Cavernosa/terapia , Exoftalmia/diagnóstico , Exoftalmia/etiologia , Humanos , Masculino , Estudos RetrospectivosRESUMO
A triton tumor is a malignant peripheral nerve sheath tumor (MPNST) with rhabdomyomatous differentiation These tumors account for 5% of MPNSTs and have an extremely poor prognosis. We describe the case of a 14-year-old girl who presented with a history of painful, progressive protrusion of her right eye with a diminution of vision for the past five years. She had been diagnosed as having an embryonal rhabdomyosarcoma of the right orbit, and she had undergone surgical debulking followed by chemotherapy and radiotherapy. Despite undergoing multiple modalities of treatment, she had several recurrences prior to this consultation. We reviewed her histology slides. HPE features were consistent with a malignant triton tumor with cartilage and osseous differentiation. Immunohistochemistry was done to confirm the diagnosis. In view of the aggressive nature of the tumor with multiple recurrences; she was advised palliative radical excision to reduce the tumor burden.
Assuntos
Neurofibrossarcoma/patologia , Neoplasias Orbitárias/patologia , Rabdomiossarcoma/patologia , Adolescente , Biomarcadores Tumorais/análise , Feminino , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Neurofibrossarcoma/diagnóstico por imagem , Neurofibrossarcoma/cirurgia , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/cirurgia , Rabdomiossarcoma/diagnóstico por imagem , Rabdomiossarcoma/cirurgia , Tomografia Computadorizada por Raios XRESUMO
To describe a unique case of a non-germinomatous germ cell tumor, a giant orbital dermoid, present in adulthood. A 31-year-old male presented in our clinic with gradual, painless, progressive proptosis in the left eye since 28 years associated with gradual loss of vision. The left eye showed gross proptosis. Ocular structures could not be made out. Computed tomography scan showed a well-circumscribed oval heterogeneous mixed solid and cystic lesion completely filling the left orbit with calcification. The differential diagnosis was that of either teratoma or optic nerve glioma. The patient underwent excision of the lesion. Histopathology revealed a capsulated tumor with multiple cystic components filled with blood and eosinophilic material suggestive of a dermoid cyst. Non-germinomatous germ cell tumors may present atypically in adults and neglected benign dermoid cysts can attain massive size mimicking malignant lesions.
Assuntos
Cisto Dermoide/diagnóstico , Neoplasias Orbitárias/diagnóstico , Adulto , Cisto Dermoide/cirurgia , Diagnóstico Diferencial , Exoftalmia/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Masculino , Glioma do Nervo Óptico/diagnóstico , Neoplasias Orbitárias/cirurgia , Teratoma/diagnóstico , Tomografia Computadorizada por Raios X , Transtornos da Visão/diagnóstico , Acuidade Visual/fisiologiaRESUMO
A 24-year-old male presented with decreased vision associated with inward deviation of his left eye since childhood and gradually progressive prominence of left eye for 6 months. Left eye examination revealed visual acuity of 2/60, convergent squint with restricted abduction and medial dystopia. Computed tomography (CT) scan showed a well-circumscribed mass with fat fluid levels temporal to the optic nerve indistinguishable from the left lateral rectus. Intraoperatively, a well-encapsulated mass was identified within the lateral rectus muscle which was confirmed as dermoid cyst on histopathology. Patient subsequently underwent surgical correction of his esotropia and the final cosmetic outcome was satisfactory. Dermoid cysts are common orbital lesions usually found overlying suture lines. A dermoid cyst presenting within the ocular muscles is a rare entity. Deep dermoid cyst should be considered as one of the differentials for focal enlargement of extraocular muscles.
Assuntos
Cisto Dermoide/diagnóstico por imagem , Esotropia/diagnóstico , Neoplasias Musculares/diagnóstico por imagem , Músculos Oculomotores/diagnóstico por imagem , Cisto Dermoide/cirurgia , Diplopia/diagnóstico , Esotropia/cirurgia , Humanos , Masculino , Neoplasias Musculares/cirurgia , Músculos Oculomotores/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Tomografia Computadorizada por Raios X , Acuidade Visual , Campos Visuais , Adulto JovemRESUMO
Ossifying fibroma (OF) is a benign fibro-osseous neoplasm which may be mistaken for other similar lesions due to overlapping clinical and radiological features. We report a 5-year-old male child with recurrent benign OF of the orbit. The child had two episodes of recurrence in a span of 18 months. Computed tomography (CT) of orbit showed a large, lobulated expansile fibro-osseous lesion involving the greater wing of sphenoid and orbital roof without intracranial extension. An excisional biopsy was done though an orbital approach. Histopathology showed fibroblast rich stroma with bony trabeculae. Osteoblastic rimming without any mitotic activity was suggestive of juvenile OF. The child developed a recurrence 6 months following the initial excision, and surgical excision was done by a neurosurgeon using a bicoronal approach. The patient had another recurrence after 1 year requiring further surgery. At 2-year follow up there was no recurrence. Juvenile OF is the most aggressive variant that commonly occurs in children, the other benign fibro-osseous lesions being fibrous dysplasias (FDs), osseous dysplasias, and familial gigantiform cementomas.
Assuntos
Fibroma Ossificante/patologia , Recidiva Local de Neoplasia/patologia , Neoplasias Orbitárias/patologia , Biópsia , Pré-Escolar , Fibroma Ossificante/diagnóstico por imagem , Fibroma Ossificante/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Procedimentos Cirúrgicos Oftalmológicos , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/cirurgia , Tomografia Computadorizada por Raios X , Acuidade VisualRESUMO
Thelazia callipaeda is a rare parasitic infestation caused by spiruroid nematode of the genus Thelazia. We report a case of a 74-year-old gentleman who presented with a painless swelling of left lower lid since 15 days. Examination revealed a firm mobile mass along the inferior orbital rim. Magnetic Resonance Imaging showed a well-defined preseptal cystic lesion and Ultrasound screening revealed multiple mobile worms within. Patient underwent cyst excision in toto under local anesthesia. Four long refractile worms were isolated from within the cyst cavity. Species identification confirmed the parasite as Thelazia callipaeda. Periocular thelaziasis usually presents as free floating worms in the conjunctival sac, anterior chamber or vitreous cavity. It is important to be aware of this rare entity which should be considered as a differential diagnosis in endemic areas.
Assuntos
Infecções Oculares Parasitárias/diagnóstico por imagem , Doenças Palpebrais/diagnóstico por imagem , Doenças Orbitárias/diagnóstico por imagem , Infecções por Spirurida/diagnóstico por imagem , Thelazioidea/isolamento & purificação , Idoso , Animais , Infecções Oculares Parasitárias/parasitologia , Infecções Oculares Parasitárias/cirurgia , Doenças Palpebrais/parasitologia , Doenças Palpebrais/cirurgia , Humanos , Imageamento por Ressonância Magnética , Masculino , Doenças Orbitárias/patologia , Doenças Orbitárias/cirurgia , Infecções por Spirurida/parasitologia , Infecções por Spirurida/cirurgia , UltrassonografiaRESUMO
End resection of DNA double-strand breaks (DSBs) to generate 3'-single-stranded DNA facilitates DSB repair via error-free homologous recombination (HR) while stymieing repair by the error-prone non-homologous end joining (NHEJ) pathway. Activation of DNA end resection involves phosphorylation of the 5' to 3' exonuclease EXO1 by the phosphoinositide 3-kinase-like kinases ATM (ataxia telangiectasia-mutated) and ATR (ATM and Rad3-related) and by the cyclin-dependent kinases 1 and 2. After activation, EXO1 must also be restrained to prevent over-resection that is known to hamper optimal HR and trigger global genomic instability. However, mechanisms by which EXO1 is restrained are still unclear. Here, we report that EXO1 is rapidly degraded by the ubiquitin-proteasome system soon after DSB induction in human cells. ATR inhibition attenuated DNA-damage-induced EXO1 degradation, indicating that ATR-mediated phosphorylation of EXO1 targets it for degradation. In accord with these results, EXO1 became resistant to degradation when its SQ motifs required for ATR-mediated phosphorylation were mutated. We show that upon the induction of DNA damage, EXO1 is ubiquitinated by a member of the Skp1-Cullin1-F-box (SCF) family of ubiquitin ligases in a phosphorylation-dependent manner. Importantly, expression of degradation-resistant EXO1 resulted in hyper-resection, which attenuated both NHEJ and HR and severely compromised DSB repair resulting in chromosomal instability. These findings indicate that the coupling of EXO1 activation with its eventual degradation is a timing mechanism that limits the extent of DNA end resection for accurate DNA repair.
Assuntos
Instabilidade Cromossômica/fisiologia , Dano ao DNA , Enzimas Reparadoras do DNA/metabolismo , Reparo do DNA/fisiologia , Exodesoxirribonucleases/metabolismo , Proteólise , Ubiquitinação/fisiologia , Motivos de Aminoácidos , Proteínas Mutadas de Ataxia Telangiectasia/genética , Proteínas Mutadas de Ataxia Telangiectasia/metabolismo , Enzimas Reparadoras do DNA/genética , Ativação Enzimática/fisiologia , Exodesoxirribonucleases/genética , Células HEK293 , Células HeLa , Humanos , Fosforilação/fisiologia , Ubiquitina-Proteína Ligases/genética , Ubiquitina-Proteína Ligases/metabolismoRESUMO
Several homology-dependent pathways can repair potentially lethal DNA double-strand breaks (DSBs). The first step common to all homologous recombination reactions is the 5'-3' degradation of DSB ends that yields the 3' single-stranded DNA required for the loading of checkpoint and recombination proteins. In yeast, the Mre11-Rad50-Xrs2 complex (Xrs2 is known as NBN or NBS1 in humans) and Sae2 (known as RBBP8 or CTIP in humans) initiate end resection, whereas long-range resection depends on the exonuclease Exo1, or the helicase-topoisomerase complex Sgs1-Top3-Rmi1 together with the endonuclease Dna2 (refs 1-6). DSBs occur in the context of chromatin, but how the resection machinery navigates through nucleosomal DNA is a process that is not well understood. Here we show that the yeast Saccharomyces cerevisiae Fun30 protein and its human counterpart SMARCAD1 (ref. 8), two poorly characterized ATP-dependent chromatin remodellers of the Snf2 ATPase family, are directly involved in the DSB response. Fun30 physically associates with DSB ends and directly promotes both Exo1- and Sgs1-dependent end resection through a mechanism involving its ATPase activity. The function of Fun30 in resection facilitates the repair of camptothecin-induced DNA lesions, although it becomes dispensable when Exo1 is ectopically overexpressed. Interestingly, SMARCAD1 is also recruited to DSBs, and the kinetics of recruitment is similar to that of EXO1. The loss of SMARCAD1 impairs end resection and recombinational DNA repair, and renders cells hypersensitive to DNA damage resulting from camptothecin or poly(ADP-ribose) polymerase inhibitor treatments. These findings unveil an evolutionarily conserved role for the Fun30 and SMARCAD1 chromatin remodellers in controlling end resection, homologous recombination and genome stability in the context of chromatin.