RESUMEN
There have been no reports of the coexistence of allergic bronchopulmonary aspergillosis (ABPA) and granulomatosis with polyangiitis (GPA). The first case of ABPA with comorbid GPA that developed exophthalmos is reported. A 69-year-old man was referred to our hospital for exophthalmos, fever, anorexia and weight loss. The patient had been diagnosed with ABPA six years earlier, which had been repeatedly treated but recurred with oral corticosteroids with or without antifungal therapy. The laboratory data on referral showed elevations of the white blood cell count, C-reactive protein and specific immunoglobulin E against Aspergillus fumigatus, but antineutrophil cytoplasmic antibody was not positive. Urinalysis showed proteinuria. Paranasal sinus and chest computed tomography showed sinusitis with osteochondral destruction, bronchiectasis, mucus plugging, and a pulmonary nodule. Orbital magnetic resonance imaging showed swelling of the medial rectus muscle and peripheral mass. The intraorbital tissue biopsy showed a necrotic granuloma and necrotizing vasculitis. The patient was diagnosed with GPA, on the basis of the Ministry of Health, Labour and Welfare's criteria of Japan. The patient was treated with induction therapy consisting of glucocorticoids and rituximab, and his symptoms improved. Though the pathogenesis common to ABPA and GPA remains unknown, neutrophilic inflammation induced by airway Aspergillus persistent infection might be involved. Study of further cases is needed.
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Exoftalmia , Granulomatosis con Poliangitis , Humanos , Masculino , Granulomatosis con Poliangitis/complicaciones , Granulomatosis con Poliangitis/tratamiento farmacológico , Anciano , Exoftalmia/etiología , Aspergilosis Broncopulmonar Alérgica/tratamiento farmacológico , Aspergilosis Broncopulmonar Alérgica/complicacionesAsunto(s)
Craneosinostosis , Enfermedades de los Perros , Exoftalmia , Intubación Intratraqueal , Perros , Animales , Intubación Intratraqueal/veterinaria , Intubación Intratraqueal/efectos adversos , Exoftalmia/veterinaria , Exoftalmia/etiología , Craneosinostosis/veterinaria , Masculino , FemeninoRESUMEN
PURPOSE: To compare inferomedial wall orbital decompression to balanced medial plus lateral wall orbital decompression in patients with Graves' orbitopathy in the inactive phase with regard to exophthalmos reduction and the effects on quality of life. METHODS: Forty-two patients with inactive Graves' orbitopathy were randomly divided into two groups and submitted to one of two orbital decompression techniques: inferomedial wall orbital decompression or medial plus lateral wall orbital decompression. Preoperative and postoperative assessments included Hertel's exophthalmometry and a validated Graves' orbitopathy quality of life questionnaire. The results of the two groups were compared. RESULTS: Compared to preoperative measurement, exophthalmos reduction was statistically significant in both groups (p<0.001) but more so in patients undergoing medial plus lateral wall orbital decompression (p=0.010). Neither orbital decompression techniques increased the visual functioning subscale score on the Graves' orbitopathy quality of life questionnaire (inferomedial wall orbital decompression p=0.362 and medial plus lateral wall orbital decompression p=0.727), but a statistically significant difference was observed in the score of the appearance subscale in patients submitted to medial plus lateral wall orbital decompression (p=0.006). CONCLUSIONS: Inferomedial wall orbital decompression is a good alternative for patients who do not require large exophthalmos reduction. However, medial plus lateral wall orbital decompression offers greater exophthalmos reduction and greater improvement in appearance (higher Graves' orbitopathy quality of life questionnaire scores), making it a suitable option for esthetic-functional rehabilitation.
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Descompresión Quirúrgica , Exoftalmia , Oftalmopatía de Graves , Calidad de Vida , Humanos , Descompresión Quirúrgica/métodos , Oftalmopatía de Graves/cirugía , Oftalmopatía de Graves/psicología , Femenino , Masculino , Adulto , Persona de Mediana Edad , Exoftalmia/cirugía , Resultado del Tratamiento , Encuestas y Cuestionarios , Órbita/cirugía , Periodo PosoperatorioRESUMEN
Introduction: Thyroid eye disease (TED) is an autoimmune process characterized by extraocular muscle and orbital fat remodeling/expansion resulting in swelling, pain, redness, proptosis, and diplopia. Teprotumumab, an insulin-like growth factor-I receptor inhibitor, demonstrated improvements in TED signs and symptoms in three adequately powered clinical trials of 24 weeks duration. Here we analyze the long-term maintenance of responses with teprotumumab from these trials. Methods: A total of 112 patients who received 7 or 8 infusions of teprotumumab in the Phase 2, Phase 3 (OPTIC study), and OPTIC Extension (OPTIC-X) studies were included in this analysis. Responses, including clinical activity score (CAS ≥2-point improvement), the European Group of Graves' Orbitopathy ophthalmic composite outcome, diplopia (≥1 Gorman grade improvement), proptosis (≥2 mm improvement), Overall (improvement in proptosis + CAS), and disease inactivation (CAS ≤1), were assessed and pooled from study baseline to week 24 (formal study) and up to week 72 (formal follow-up). Graves' Ophthalmopathy quality-of-life (GO-QoL) scores were also assessed. Outcomes included the percentages of observed patient responses from the study baseline. Additional alternative treatments for TED were assessed as a surrogate of persistent benefit from week 24 through week 120 (extended follow-up). Studies differed in the timing of follow-up visits, and data from some visits were unavailable. Results: At week 72, 52/57 (91.2%), 51/57 (89.5%), 35/48 (72.9%), 38/56 (67.9%), and 37/56 (66.1%) of patients were responders for CAS, composite outcome, diplopia, proptosis, and Overall response, respectively. The mean reduction in proptosis was 2.68 mm (SD 1.92, n = 56), mean GO-QoL improvement was 15.22 (SE 2.82, n = 56), and disease inactivation (CAS ≤1) was detected in 40/57 (70.2%). Over 99 weeks following teprotumumab therapy, 19/106 (17.9%) patients reported additional TED therapy during formal and extended follow-up. Conclusion: The long-term response to teprotumumab as observed 51 weeks after therapy was similar to week 24 results in the controlled clinical trials. Inflammatory and ophthalmic composite outcome improvements were seen in 90% of patients with nearly 70% reporting improvement in diplopia and proptosis. Further, 82% of patients in this analysis did not report additional TED treatment (including surgery) over 99 weeks following the final teprotumumab dose.
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Anticuerpos Monoclonales Humanizados , Oftalmopatía de Graves , Humanos , Oftalmopatía de Graves/tratamiento farmacológico , Masculino , Femenino , Anticuerpos Monoclonales Humanizados/uso terapéutico , Persona de Mediana Edad , Resultado del Tratamiento , Estudios de Seguimiento , Adulto , Anciano , Exoftalmia/tratamiento farmacológico , Diplopía/tratamiento farmacológico , Receptor IGF Tipo 1/antagonistas & inhibidoresRESUMEN
BACKGROUND: Posterior movement of ocular tissue secondary to orbital cavernous venous malformation shrinkage from fractionated stereotactic radiotherapy can allow healthy structures to move into the radiation field during treatment. This may carry an increased risk of radiation-induced retinopathy. METHODS: We present a case of a young female whose radiotherapy treatment for an orbital cavernous venous malformation resulted in a 3 mm reduction in proptosis and subsequent retinopathy. RESULTS: The severity of the patient's radiation-induced radiotherapy exceeded expectations. The venous malformation shrinkage during treatment and ensuing posterior movement of the globe suggested an increased involvement of ocular tissue in the radiation field, prompting consideration of interval neuroimaging and tumour mapping. CONCLUSIONS: We describe and suggest a protocol of onboard neuroimaging during the radiation therapy course to better target tumour volumes and minimise collateral tissue damage. To our knowledge, this has not been previously described in the ophthalmic literature.
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Imagen por Resonancia Magnética , Traumatismos por Radiación , Radiocirugia , Enfermedades de la Retina , Humanos , Femenino , Radiocirugia/efectos adversos , Enfermedades de la Retina/etiología , Enfermedades de la Retina/diagnóstico , Traumatismos por Radiación/diagnóstico , Traumatismos por Radiación/etiología , Neoplasias Orbitales/radioterapia , Adulto , Fraccionamiento de la Dosis de Radiación , Órbita/irrigación sanguínea , Órbita/diagnóstico por imagen , Exoftalmia/etiología , Exoftalmia/diagnósticoRESUMEN
This study aimed to investigate the effect of orbital wall decompression surgery and reduction of proptosis on the choroidal vascularity index (CVI) and subfoveal choroidal thickness (SFCT) in patients with thyroid eye disease (TED). Fifty-one eyes from 38 patients with controlled TED and proptosis were enrolled in this study. The majority of the patients (50.9%) had a clinical activity score (CAS) of zero, and none had a CAS greater than 2. The patients underwent a complete baseline ophthalmologic examination, and their choroidal profile alterations were monitored using enhanced depth imaging optical coherence tomography (EDI-OCT) before and during the three months after surgery. Changes in SFCT, luminance area (LA), total choroidal area (TCA), and the choroidal vascularity index (CVI) were measured as the ratio of LA to TCA in EDI-OCT images. The participants had an average age of 46.47 years, and 22 were female (57.9%). The SFCT of the patients exhibited a significant reduction over the follow-up period, decreasing from 388 ± 103 to 355 ± 95 µm in the first month (p < 0.001) and further decreasing to 342 ± 109 µm by the third month compared to baseline (p < 0.001). The CVI exhibited a drop from 0.685 ± 0.037 at baseline to 0.682 ± 0.035 and 0.675 ± 0.030 at 1 and 3 months post-surgery, respectively. However, these changes were not statistically significant, indicating comparable decreases in both LA and TCA. There was a significant correlation between improved proptosis and reduction in SFCT (p < 0.001) but not with CVI (p = 0.171). In conclusion, during the three months of follow-up following orbital wall decompression, CVI did not change, while SFCT reduced significantly. Additionally, SFCT was significantly correlated with proptosis reduction, whereas CVI was not.
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Coroides , Descompresión Quirúrgica , Oftalmopatía de Graves , Órbita , Tomografía de Coherencia Óptica , Humanos , Femenino , Masculino , Persona de Mediana Edad , Descompresión Quirúrgica/métodos , Oftalmopatía de Graves/cirugía , Oftalmopatía de Graves/diagnóstico por imagen , Coroides/diagnóstico por imagen , Coroides/cirugía , Coroides/patología , Tomografía de Coherencia Óptica/métodos , Adulto , Órbita/cirugía , Órbita/diagnóstico por imagen , Exoftalmia/cirugía , Exoftalmia/diagnóstico por imagen , Anciano , Resultado del TratamientoRESUMEN
Purpose: This study aims to report correlations between thyroid-stimulating immunoglobulin (TSI) and both clinical and radiological parameters in recent-onset symptomatic thyroid eye disease (TED) patients. Methods: A prospective cohort study of TED patients managed at the Chinese University of Hong Kong from January 2014 to May 2022. Serum TSI levels were determined with the functional assay. Outcomes included the Clinical Activity Score (CAS), marginal reflex distance1 (MRD1), extraocular muscle motility restriction (EOMy), exophthalmos, and diplopia. The radiological assessment included cross-sectional areas and signal of extraocular muscles on STIR-sequence MRI. Results: A total of 255 (197 female) treatment-naive patients, with an average onset age of 50 ± 14 years (mean ± s.d.), were included. Elevated pre-treatment TSI level was observed in 223 (88%) patients. There was a weak positive correlation between TSI and CAS (r = 0.28, P = 0.000031), MRD1 (r = 0.17, P = 0.0080), and the size of the levator palpebrae superioris/superior rectus complex (r = 0.25, P = 0.018). No significant correlation existed between TSI and STIR signals. The AUC and optimal cut-off value for clinical active TED were 0.67 (95% CI: 0.60-0.75) and 284% (specificity: 50%, sensitivity: 85%). In total, 64 patients received intravenous methylprednisolone (IVMP) during the study interval, and they had a higher baseline TSI level than those who did not have IVMP (P = 0.000044). Serial post-IVMP TSI among the 62 patients showed a significant reduction compared to the baseline level (P < 0.001). Both the baseline and post-IVMP TSI levels, and percentages of TSI changes were comparable between patients who responded and did not respond to the first course of IVMP. Conclusion: TSI can be a serum biomarker for the diagnosis, prognosis, and treatment response of TED. Further validation should be warranted.
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Oftalmopatía de Graves , Inmunoglobulinas Estimulantes de la Tiroides , Humanos , Femenino , Masculino , Oftalmopatía de Graves/sangre , Oftalmopatía de Graves/epidemiología , Oftalmopatía de Graves/tratamiento farmacológico , Persona de Mediana Edad , Estudios Prospectivos , Adulto , Inmunoglobulinas Estimulantes de la Tiroides/sangre , Anciano , Músculos Oculomotores/diagnóstico por imagen , Hong Kong/epidemiología , Imagen por Resonancia Magnética , Diplopía/epidemiología , Exoftalmia/epidemiología , Exoftalmia/sangreRESUMEN
PURPOSE: Thyroid eye disease (TED) is characterized by a variety of disfiguring periocular changes. Vertical globe changes affecting the relative position of the eyelids are not well understood in patients with TED. This study seeks to determine the effect of orbital decompression on vertical globe displacement in patients with TED, without TED, and with intraconal tumor (ICT). METHODS: For this cross-sectional study, a clinical database was used to identify patients with TED. Comparison groups were drawn from separate anonymized databases. Vertical position and interpupillary distance (IPD) were measured from photographs and exophthalmos was measured via Hertel's exophthalmometer. Primary outcomes were vertical globe position at baseline and postoperatively in patients with TED and ICT. Secondary outcomes included the relationship between vertical globe position, exophthalmos, and IPD. RESULTS: Among 269 participants meeting the inclusion criteria, mean vertical globe position was significantly lower in patients with TED following lateral decompression surgery compared to controls, after accounting for race, age, and sex. While patients with ICT had a significant difference in preoperative and postoperative IPD, patients with TED did not. Medial or inferior decompression did not significantly change globe position and lateral decompression did not cause lateral canthal dystopia in patients with TED. No association between postoperative changes in exophthalmometry, IPD, and globe position was found in patients with TED. CONCLUSIONS: Patients with TED experience hypoglobus that does not improve following decompression surgery. There was no correlation between change in vertical globe position and exophthalmos or IPD among patients with TED. Surgeons should discuss the possibility of hypoglobus as a persistent finding for patients with TED undergoing decompression surgery.
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Descompresión Quirúrgica , Exoftalmia , Oftalmopatía de Graves , Humanos , Femenino , Masculino , Estudios Transversales , Exoftalmia/cirugía , Oftalmopatía de Graves/cirugía , Persona de Mediana Edad , Adulto , Anciano , Órbita/cirugía , Órbita/diagnóstico por imagenRESUMEN
A patient in his 20s presented with a change in the appearance of his left eye with evidence of relative afferent pupillary defect. Imaging revealed a giant frontoethmoidal osteoma, a benign sinonasal tumour, invading three-quarters of the orbit. Multidisciplinary discussion involving opthalmology, maxillofacial surgery, neurosurgery and otolaryngology resulted in the decision to attempt entirely endoscopic excision of this lesion, which was performed with successful outcomes. This case demonstrates how a sinonasal osteoma should be considered in the differential diagnosis for a patient presenting with proptosis or other eye signs suggestive of compression of the orbital compartment. This case report and literature review highlights the possibility of managing giant sinonasal osteomas with orbital extension through a completely endoscopic approach.
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Endoscopía , Osteoma , Neoplasias de los Senos Paranasales , Humanos , Osteoma/cirugía , Osteoma/diagnóstico por imagen , Osteoma/patología , Masculino , Endoscopía/métodos , Neoplasias de los Senos Paranasales/cirugía , Neoplasias de los Senos Paranasales/diagnóstico por imagen , Neoplasias de los Senos Paranasales/patología , Hueso Etmoides/diagnóstico por imagen , Hueso Etmoides/cirugía , Hueso Etmoides/patología , Neoplasias Orbitales/cirugía , Neoplasias Orbitales/diagnóstico por imagen , Neoplasias Orbitales/patología , Senos Etmoidales/diagnóstico por imagen , Senos Etmoidales/cirugía , Senos Etmoidales/patología , Órbita/diagnóstico por imagen , Órbita/cirugía , Órbita/patología , Seno Frontal/diagnóstico por imagen , Seno Frontal/cirugía , Seno Frontal/patología , Tomografía Computarizada por Rayos X , Adulto Joven , Exoftalmia/etiología , Exoftalmia/cirugía , Diagnóstico Diferencial , AdultoRESUMEN
This study reported a case of an arachnoid cyst of the sphenoid bone causing orbital signs and symptoms in a 58-year-old man with progressive proptosis and nonspecific discomfort in the OS. Orbital MRI showed a 3-cm homogeneous cyst within the left greater wing of the sphenoid bone. To the best of our knowledge, this is the first report of an intradiploic arachnoid cyst in the sphenoid bone with atypical radiological features, causing clinical symptoms, and managed through an eyelid approach, achieving a complete resolution with no complications.
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Quistes Aracnoideos , Imagen por Resonancia Magnética , Enfermedades Orbitales , Humanos , Quistes Aracnoideos/diagnóstico , Quistes Aracnoideos/cirugía , Quistes Aracnoideos/diagnóstico por imagen , Persona de Mediana Edad , Masculino , Enfermedades Orbitales/diagnóstico , Hueso Esfenoides/diagnóstico por imagen , Órbita/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Exoftalmia/diagnóstico , Exoftalmia/etiologíaRESUMEN
The purpose of this article is to report a rare case of isolated superior ophthalmic vein thrombosis. A 74-year-old female presented to the emergency department with a sudden onset of eye pain and bulging. Ophthalmological examination was remarkable for proptosis and ptosis with chemosis of the OS. Neuroimaging demonstrated an isolated superior ophthalmic vein thrombosis secondary to presumed thrombosis of the superior vein varix. Hypercoagulable, infectious, and autoimmune lab workups were unremarkable. The patient was initiated on anticoagulation with the eventual resolution of her symptoms. Isolated superior ophthalmic vein thrombosis is an uncommon diagnosis that requires urgent evaluation to prevent vision loss. Risk factors are multifactorial with infectious being the most common etiology. Our case is unique in that there was no identifiable risk factor.
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Trombosis de la Vena , Humanos , Femenino , Anciano , Trombosis de la Vena/diagnóstico , Trombosis de la Vena/etiología , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , Exoftalmia/diagnóstico , Exoftalmia/etiologíaRESUMEN
OBJECTIVE: This study aimed to investigate the clinical characteristics of patients with complications following inadequate primary orbital fracture repair and to evaluate surgical outcomes of secondary revision orbital reconstruction. METHODS: The authors retrospectively reviewed data from 41 patients who underwent revision orbital reconstruction by a single surgeon following complications from primary orbital fracture repair performed elsewhere. Clinical characteristics, including enophthalmos, exophthalmos, diplopia, ocular motility limitation, epiphora, infraorbital hypoesthesia, infection, eyelid malposition, lagophthalmos, hypoglobus, and compressive optic neuropathy, were assessed. Surgical outcomes of revision surgery were evaluated to determine improvements in clinical deficits and postoperative patient satisfaction. RESULTS: The most common postoperative complications of primary orbital fracture repair were enophthalmos (n=20/41) and diplopia (n=20/41). The mean time between primary and revision surgeries was 67.2 months (range: 1-276 mo). Revision surgery significantly improved enophthalmos, diplopia (Hess area ratio), epiphora (Munk score), periorbital pain, and exophthalmos ( P =0.003, P =0.001, P <0.001, P <0.001, and P =0.007, respectively) compared to the pre-revision state. In addition, 6 patients experienced improved infraorbital hypoesthesia. Among the 41 patients, 23 were very satisfied, 17 were satisfied, and 1 was neutral after revision orbital reconstruction. CONCLUSIONS: Our study highlights the positive impact of revision orbital reconstruction in addressing complications from inadequate primary orbital fracture repair. Surgeons should consider revision surgery to address clinical deficits following prior surgery, especially when anatomic abnormalities are evident in imaging studies, regardless of the time lapse since the initial surgery or concerns about tissue fibrosis and fat atrophy.
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Diplopía , Fracturas Orbitales , Procedimientos de Cirugía Plástica , Complicaciones Posoperatorias , Reoperación , Humanos , Fracturas Orbitales/cirugía , Masculino , Femenino , Adulto , Estudios Retrospectivos , Persona de Mediana Edad , Procedimientos de Cirugía Plástica/métodos , Adolescente , Resultado del Tratamiento , Diplopía/etiología , Diplopía/cirugía , Enoftalmia/cirugía , Enoftalmia/etiología , Satisfacción del Paciente , Anciano , Niño , Exoftalmia/cirugía , Exoftalmia/etiologíaRESUMEN
Immunoglobulin G4-related disease (IgG4-RD) is characterized by a systemic fibroinflammatory infiltrate that often involves the orbit in addition to other tissues. Thus it has to be considered in the differential diagnosis of orbital tumors. We report the clinical case of a 64-year-old woman who presented with right mydriasis, progressive proptosis and paralysis of the third cranial nerve of 1 year of evolution. Cranial MRI identified an intraconal lesion of the right orbit, located between the external and inferior rectus muscles and the optic nerve, and she was scheduled for surgery by transcranial approach with lateral micro-orbitomy. A satisfactory macroscopic excision was achieved with no remarkable complications and a definitive deferred histological result of pseudotumor by IgG4-RD. Follow-up for 24 months showed no tumor recurrence, and the patient clinically improved from ophthalmoplegia. This case highlights the efficacy of lateral orbitotomy in the etiologic diagnosis and successful therapeutic outcome of complex orbital lesions associated with IgG4-RD pseudotumor.
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Enfermedad Relacionada con Inmunoglobulina G4 , Órbita , Seudotumor Orbitario , Humanos , Femenino , Persona de Mediana Edad , Seudotumor Orbitario/cirugía , Seudotumor Orbitario/diagnóstico por imagen , Enfermedad Relacionada con Inmunoglobulina G4/cirugía , Enfermedad Relacionada con Inmunoglobulina G4/complicaciones , Enfermedad Relacionada con Inmunoglobulina G4/diagnóstico por imagen , Órbita/cirugía , Órbita/diagnóstico por imagen , Imagen por Resonancia Magnética , Exoftalmia/etiologíaRESUMEN
Este manuscrito presenta un caso de un leiomioma orbitario de larga evolución en un joven de 14años. El tumor era inusualmente grande y causaba una proptosis severa y una afectación importante de la musculatura ocular. El paciente presentaba amaurosis, una oftalmoplejía completa, dolor ocular espontáneo e incapacidad para cerrar los párpados. Debido al tamaño del tumor y a su progresión, se realizó una exenteración orbitaria derecha para eliminar todo el contenido orbitario, incluyendo el tumor y el globo ocular. El procedimiento quirúrgico tenía como objetivo prevenir la recurrencia del tumor y mejorar la calidad de vida del paciente. El análisis histopatológico confirmó el diagnóstico de leiomioma orbitario. Este caso presenta un interés particular por el grado de evolución que ha alcanzado. La extirpación completa del tumor y un seguimiento a largo plazo son necesarios para prevenir la recurrencia y garantizar resultados óptimos para el paciente. Además, este caso refleja las grandes diferencias en el acceso a la sanidad en las diferentes regiones del mundo. (AU)
This manuscript describes an exceptional case of a long-standing orbital leiomyoma in a 14-year-old male. The tumor was unusually large, causing severe proptosis and significant involvement of the ocular muscles. The patient presented with amaurosis, complete ophthalmoplegia, spontaneous eye pain, and the inability to close the eyelids, leading to psychological distress. Due to the tumor's size and progression, a right orbital exenteration was performed to remove all orbital contents, including the tumor and the eyeball. The surgical procedure aimed to prevent tumor recurrence and improve the patient's quality of life. The histopathological analysis confirmed the diagnosis of orbital leiomyoma. This case presents a particular interest due to the degree of evolution it has reached. Complete tumor excision and long-term follow-up are necessary to prevent recurrence and ensure optimal patient outcomes. This report underscores global healthcare disparities and the complexity of managing rare orbital neoplasms in diverse country settings. (AU)
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Humanos , Masculino , Adolescente , Leiomioma , Exoftalmia , Oftalmoplejía , Evisceración OrbitariaRESUMEN
A 26-year-old male with a history of orbital lymphangioma and compressive optic neuropathy presented with recurrent proptosis in the OS. After examination and imaging, a left orbital lymphatic malformation and a new subcutaneous temporal-parietal vasculo-lymphatic malformation were diagnosed. The patient underwent a bleomycin injection for the orbital malformation and an excisional biopsy for the temporal lesion, leading to symptom resolution. Recurrence of lymphatic malformations and hemorrhage typically occurs at the same site, here we report a patient with the appearance of a new site lesion with orbital recurrence.
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Anomalías Linfáticas , Neoplasias Orbitales , Humanos , Masculino , Adulto , Anomalías Linfáticas/diagnóstico , Neoplasias Orbitales/diagnóstico , Linfangioma/diagnóstico , Imagen por Resonancia Magnética , Órbita/diagnóstico por imagen , Órbita/anomalías , Antibióticos Antineoplásicos/uso terapéutico , Exoftalmia/diagnóstico , Bleomicina/uso terapéutico , Tomografía Computarizada por Rayos XRESUMEN
Raine syndrome (RNS) is a rare autosomal recessive osteosclerotic dysplasia. RNS is caused by loss-of-function disease-causative variants of the FAM20C gene that encodes a kinase that phosphorylates most of the secreted proteins found in the body fluids and extracellular matrix. The most common RNS clinical features are generalized osteosclerosis, facial dysmorphism, intracerebral calcifications and respiratory defects. In non-lethal RNS forms, oral traits include a well-studied hypoplastic amelogenesis imperfecta (AI) and a much less characterized gingival phenotype. We used immunomorphological, biochemical, and siRNA approaches to analyze gingival tissues and primary cultures of gingival fibroblasts of two unrelated, previously reported RNS patients. We showed that fibrosis, pathological gingival calcifications and increased expression of various profibrotic and pro-osteogenic proteins such as POSTN, SPARC and VIM were common findings. Proteomic analysis of differentially expressed proteins demonstrated that proteins involved in extracellular matrix (ECM) regulation and related to the TGFß/SMAD signaling pathway were increased. Functional analyses confirmed the upregulation of TGFß/SMAD signaling and subsequently uncovered the involvement of two closely related transcription cofactors important in fibrogenesis, Yes-associated protein (YAP) and transcriptional coactivator with PDZ-binding motif (TAZ). Knocking down of FAM20C confirmed the TGFß-YAP/TAZ interplay indicating that a profibrotic loop enabled gingival fibrosis in RNS patients. In summary, our in vivo and in vitro data provide a detailed description of the RNS gingival phenotype. They show that gingival fibrosis and calcifications are associated with, and most likely caused by excessed ECM production and disorganization. They furthermore uncover the contribution of increased TGFß-YAP/TAZ signaling in the pathogenesis of the gingival fibrosis.
Asunto(s)
Anomalías Múltiples , Proteínas Adaptadoras Transductoras de Señales , Fisura del Paladar , Hipoplasia del Esmalte Dental , Exoftalmia , Fibroblastos , Fibrosis , Encía , Osteosclerosis , Proteómica , Transducción de Señal , Factores de Transcripción , Factor de Crecimiento Transformador beta , Proteínas Señalizadoras YAP , Humanos , Factor de Crecimiento Transformador beta/metabolismo , Encía/metabolismo , Encía/patología , Proteómica/métodos , Fibrosis/metabolismo , Proteínas Señalizadoras YAP/metabolismo , Proteínas Señalizadoras YAP/genética , Osteosclerosis/metabolismo , Osteosclerosis/genética , Osteosclerosis/patología , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Proteínas Adaptadoras Transductoras de Señales/genética , Factores de Transcripción/metabolismo , Factores de Transcripción/genética , Hipoplasia del Esmalte Dental/metabolismo , Hipoplasia del Esmalte Dental/genética , Hipoplasia del Esmalte Dental/patología , Fibroblastos/metabolismo , Fibroblastos/patología , Microcefalia/metabolismo , Microcefalia/genética , Microcefalia/patología , Femenino , Proteínas Coactivadoras Transcripcionales con Motivo de Unión a PDZ/metabolismo , Masculino , Transactivadores/metabolismo , Transactivadores/genética , Péptidos y Proteínas de Señalización Intracelular/metabolismo , Péptidos y Proteínas de Señalización Intracelular/genética , Quinasa de la Caseína I/metabolismo , Quinasa de la Caseína I/genética , Proteínas de la Matriz Extracelular/metabolismo , Proteínas de la Matriz Extracelular/genética , Amelogénesis Imperfecta/metabolismo , Amelogénesis Imperfecta/genética , Amelogénesis Imperfecta/patología , Células CultivadasRESUMEN
OBJECTIVE: This study aimed to identify factors affecting proptosis recovery in spheno-orbital meningioma (SOM) surgery and assess functional and oncological outcomes. METHODS: Data from 32 consecutive SOM surgery cases (2002-2021) were analyzed. Clinical, radiological, operative, and oncological parameters were examined. Proptosis was assessed using the exophthalmos index (EI) on MRI or CT scans. Statistical analyses were performed to identify predictive factors for proptosis recovery. RESULTS: Proptosis improved in 75% of patients post-surgery (EI decreased from 1.28 ± 0.16 to 1.20 ± 0.13, p = 0.048). Patients with stable or worsened EI had higher body mass index (28.5 ± 7.9 vs. 24.1 ± 4.7, p = 0.18), Simpson grade (IV 75% vs. 65%, p = 0.24), and middle sphenoid wing epicenter involvement (63% vs. 38%, p = 0.12), but no significant factors were associated with unfavorable exophthalmos outcomes. The improvement group had higher en plaque morphology, infratemporal fossa invasion, and radiation treatment for cavernous sinus residual tumor (88% vs. 75%, p = 0.25; 51% vs. 25%, p = 0.42; 41% vs. 25%, p = 0.42, respectively), but without statistical significance. Visual acuity remained stable in 78%, improved in 13%, and worsened in 9% during follow-up. Surgery had a positive impact on preoperative oculomotor nerve dysfunction in 3 of 4 patients (75%). Postoperative oculomotor nerve dysfunction was observed in 25%, of which 75% fully recovered. This occurrence was significantly associated with irradiation of an orbital tumor residue (p = 0.04). New postoperative trigeminal hypoesthesia was observed in 47%, of which 73% recovered. All SOMs were classified as WHO grade 1, and complementary treatments achieved oncological control, requiring gamma-knife radiosurgery in 53% and standard radiotherapy in 6%. CONCLUSIONS: Surgery effectively improves proptosis in SOM, though complete resolution is rare. The absence of predictive factors suggests multifactorial causes, including body mass index and tumor resection grade. Postoperative oculomotor nerve dysfunction and trigeminal hypoesthesia are common but often recover. Gamma-knife radiosurgery maintains long-term oncological control for evolving tumor residue.