RESUMEN
Marshall-Smith Syndrome (MSS) is a rare progressive developmental disorder that severely impairs a patient's intellectual development and physical health. The only known cause for MSS is a mutation in the nuclear factor 1 X (NFIX) gene. This mutation affects neuronal development and protein transcription. Historically, most patients with MSS do not survive beyond 3 years of age. Reports of ocular findings are limited. We report a case of a 9-year-old MSS patient with progressive craniosynostosis, elevated intracranial pressure, and catastrophic ocular complications. A comprehensive PubMed literature search from 2018 to August 2022 updating a previous review of older literature produced 72 articles relating to MSS, which are reviewed.
Asunto(s)
Craneosinostosis , Humanos , Craneosinostosis/complicaciones , Craneosinostosis/genética , Craneosinostosis/cirugía , Niño , Masculino , Displasia Septo-Óptica/genética , Displasia Septo-Óptica/complicaciones , Microcefalia/genética , Microcefalia/complicaciones , Anomalías Múltiples , Enfermedades del Desarrollo Óseo , Anomalías CraneofacialesRESUMEN
A 52-year-old woman presented with a 6-month history of progressive right proptosis associated with intermittent right retrobulbar and facial pain. MRI revealed a heterogeneously enhancing, well-circumscribed, ovoid, soft tissue mass in the intraconal space near the right orbital apex displacing the optic nerve medially. Excisional biopsy established the diagnosis of a schwannoma-perineurioma hybrid peripheral nerve sheath tumor (HPNST). This case represents only the second reported occurrence, to our knowledge, of an orbital schwannoma-perineurioma HPNST.
Asunto(s)
Exoftalmia , Neoplasias de la Vaina del Nervio , Neurilemoma , Neoplasias Orbitales , Femenino , Humanos , Persona de Mediana Edad , Órbita/diagnóstico por imagen , Órbita/patología , Neoplasias de la Vaina del Nervio/diagnóstico , Neurilemoma/diagnóstico , Neurilemoma/patología , Neoplasias Orbitales/patologíaRESUMEN
There are various orbital implant options following enucleation. In cases of severe infection, such as panophthalmitis with extraocular extension, it is reasonable to consider a two-staged approach to decrease the risk of infectious complications. One option, illustrated by this case, is enucleation with insertion of an antimicrobial-eluting cement implant, followed by a secondary procedure to exchange the cement with a permanent orbital implant. We report on a patient with clinical, ultrasound, and radiographical findings consistent with infectious panophthalmitis with extra-scleral extension. Intolerable pain and progressive orbital involvement in a blind eye were the indications for enucleation. To reduce the risk of persistent infection, a gentamycin-eluting cement implant (Palacos® R + G as an intraorbital implant) was utilized in the initial procedure. Two months later, the cement implant was removed, and a scleral-wrapped porous implant was placed into a quiet socket without signs of inflammation or infection. In the setting of severe infection, a two-staged procedure utilizing an antimicrobial-eluting implant can be considered.
Asunto(s)
Antiinfecciosos , Implantes Orbitales , Panoftalmitis , Humanos , Panoftalmitis/cirugía , Implantación de Prótesis/métodos , Enucleación del Ojo , Estudios Retrospectivos , Órbita/cirugía , Complicaciones PosoperatoriasRESUMEN
With the ongoing development of the COVID-19 pandemic, research continues to emerge regarding the pathophysiology, characteristics, and treatment considerations for patients with COVID-19. No reports have highlighted the specific challenges posed in the management of pediatric patients with COVID-19 who present with complicated rhinosinusitis. In this report, we discuss our preoperative, intraoperative, and postoperative multidisciplinary treatment strategy for these cases and provide two examples of complicated rhinosinusitis cases in COVID-19 patients, treated with two different approaches. Pearls, insights, and a brief review of the literature are discussed.
Asunto(s)
Infecciones por Coronavirus/complicaciones , Neumonía Viral/complicaciones , Rinitis/virología , Sinusitis/virología , Adolescente , Betacoronavirus , COVID-19 , Prueba de COVID-19 , Niño , Técnicas de Laboratorio Clínico , Terapia Combinada , Infecciones por Coronavirus/diagnóstico , Infecciones por Coronavirus/diagnóstico por imagen , Infecciones por Coronavirus/terapia , Humanos , Masculino , Pandemias , Neumonía Viral/diagnóstico por imagen , Neumonía Viral/terapia , Rinitis/diagnóstico por imagen , Rinitis/terapia , SARS-CoV-2 , Sinusitis/diagnóstico por imagen , Sinusitis/terapiaRESUMEN
We review two cases of adolescents with orbital cellulitis, sinusitis and SARS- CoV-2 infection presenting to emergency departments within a 24 hour period. SARS-CoV-2 samples obtained within 24 hours were positive, supporting prior infection despite relatively limited early symptoms of COVID-19. Unusual clinical and radiographic characteristics included hemorrhagic abscess with blood of varying age in the first, intracranial epidural abscess in the second, radiographic signal consistent with hemorrhagic or thrombotic phenomena, retro-maxillary antral fat changes, and meningeal enhancement or extension in both cases. Radiographic findings thereby mimic fungal infection, although final cultures and ancillary investigation for allergic and invasive fungal disease have remained negative. These cases highlight two unusual orbital presentations of cellulitis occurring in the context of SARS-CoV-2 co-infection.
Asunto(s)
Infecciones por Coronavirus/complicaciones , Infecciones por Coronavirus/diagnóstico , Desbridamiento/métodos , Sinusitis Frontal/terapia , Celulitis Orbitaria/terapia , Procedimientos Quirúrgicos Otorrinolaringológicos/métodos , Neumonía Viral/complicaciones , Neumonía Viral/diagnóstico , Adolescente , Antibacterianos/uso terapéutico , Betacoronavirus , COVID-19 , Prueba de COVID-19 , Niño , Técnicas de Laboratorio Clínico/métodos , Terapia Combinada/métodos , Servicio de Urgencia en Hospital , Estudios de Seguimiento , Sinusitis Frontal/diagnóstico por imagen , Sinusitis Frontal/etiología , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Celulitis Orbitaria/diagnóstico por imagen , Celulitis Orbitaria/etiología , Pandemias , Medición de Riesgo , SARS-CoV-2 , Muestreo , Índice de Severidad de la Enfermedad , Tomografía Computarizada por Rayos X/métodos , Resultado del TratamientoRESUMEN
A 58-year-old man presented with a 9-month history of a chronically draining surgical wound and low-grade periorbital inflammation following a right lateral orbitotomy. Imaging of the right orbit revealed a peculiar lesion in the right lateral orbit that was hypointense on both T1- and T2-weighted MRI with peripheral enhancement. Exploratory orbitotomy and biopsy established the diagnosis of a chronic foreign body inflammatory reaction to bone wax; symptoms resolved following evacuation of the retained foreign material.A 58-year-old man developed a chronic, symptomatic, inflammatory reaction to bone wax following a lateral orbitotomy; only once previously has symptomatic orbital inflammation following orbital surgery as a result of bone wax been reported.
Asunto(s)
Cuerpos Extraños , Procedimientos Quirúrgicos Oftalmológicos/efectos adversos , Enfermedades Orbitales/etiología , Palmitatos/efectos adversos , Ceras/efectos adversos , Humanos , Masculino , Persona de Mediana Edad , Órbita/cirugíaRESUMEN
PURPOSE: The clinical significance of postoperative pseudomeningocele formation following optic nerve sheath fenestration (ONSF) has not been fully characterized. A literature review identifies 9 previously published cases the authors believe demonstrate pseudomeningocele formation and approximately 19 other similar findings that were either transient or less defined blebs. This study was undertaken to more clearly define the clinical, radiographic, and histopathologic features associated with this entity. METHODS: Sixteen-year, single-center, retrospective chart review of all ONSF cases performed by 2 surgeons. Clinical data, intracranial pressure, radiographic imaging, and histopathology of clinically detected pseudomeningoceles after ONSF were reviewed. RESULTS: Eighty-six eyes in 57 patients underwent ONSF (28 unilateral, 12 bilateral sequential, 17 bilateral simultaneous). Forty-nine of 57 patients had elevated intracranial pressure preoperatively (41 idiopathic intracranial hypertension, 4 venous thrombosis, 2 meningitis, 1 arteriovenous malformation, and 1 sarcoid). In 32 patients undergoing postoperative imaging, 4 eyes (4.7%) in 4 patients developed well-defined pseudomeningoceles, of which 3 were symptomatic and 2 required surgical revision. Each pseudomeningocele developed in the setting of elevated preoperative intracranial pressure (350, 360, 430, 500 mm H20). Magnetic resonance imaging and/or computed tomography revealed sharply demarcated fluid-filled sacs adjacent to the optic nerve. The contents of these sacs were hypointense on T1-weighted imaging, hyperintense on T2-weighting, variably enhanced with contrast, and hypointense on fluid attenuated inversion recovery, and were thus consistent with cerebrospinal fluid. Histopathologic analysis of one of these outpouchings demonstrated an acellular, fibrocollagenized lining consistent with pseudomeningocele. Three eyes in 3 additional patients had less well-defined findings on imaging interpreted as bleb-like or cyst-like change. CONCLUSIONS: Pseudomeningoceles following ONSF may be asymptomatic or may cause symptomatic orbital mass effect and rarely visual loss, amendable to surgical excision. Post-ONSF pseudomeningoceles are identified on computed tomography or magnetic resonance imaging to occur at the locations of fenestration sites and contain cerebrospinal fluid communicating with the subdural space that may act as a "filtration" bleb in some cases. Imaging findings may represent a spectrum spanning intraorbital cerebrospinal fluid leakage, partial walling off of bleb, or fully developed cysts. Resection of optic nerve pseudomeningoceles is considered in symptomatic cysts or eyes with papilledema that fails to improve.
Asunto(s)
Imagen por Resonancia Magnética/métodos , Nervio Óptico/diagnóstico por imagen , Papiledema/diagnóstico , Seudotumor Cerebral/diagnóstico , Agudeza Visual , Adulto , Femenino , Humanos , Persona de Mediana Edad , Papiledema/etiología , Papiledema/fisiopatología , Seudotumor Cerebral/complicaciones , Seudotumor Cerebral/fisiopatología , Estudios Retrospectivos , Tomografía Computarizada por Rayos XRESUMEN
PURPOSE: Recent studies suggest an increasing incidence of gram-negative bacteria and methicillin-resistant Staphylococcus aureus in dacryocystitis. Since patients are often treated empirically without culture data, a changing microbiologic profile will markedly affect the success of oral treatment. To provide current guidelines for the treatment of this common condition, we investigated the microbiology and antibiogram of dacryocystitis seen at our institution. METHODS: The charts of all patients presenting with acute and/or chronic dacryocystitis in University Hospital, Newark, from 2007 to 2015 were reviewed. Patient demographics, culture isolates, and in vitro antimicrobial susceptibility data were collected. Additional sensitivity data were obtained from the Sanford Guide to Antimicrobial Therapy. RESULTS: A total of 137 patients were included in the study. Of 205 samples collected, S. aureus was the most commonly isolated organism (46 of 156, 30%) followed by Pseudomonas species (19 of 156, 12%) and Propionibacterium acnes (15 of 156, 10%). Based on sensitivity data, the two oral antibiotics that would have been most effective in this population were levofloxacin and amoxicillin/clavulanate; however, even these antibiotics would have encountered at least one resistant organism in 16% and 32% of patients, and potentially in another 15% and 8% of patients, respectively. CONCLUSIONS: Given the broad range of causative organisms, routine treatment of dacryocystitis with any specific antibiotic may fail in up to one-third of patients. Obtaining a culture at the time empiric antibiotic treatment is initiated can prove extremely valuable when treating patients with dacryocystitis.
Asunto(s)
Bacterias/aislamiento & purificación , Dacriocistitis/microbiología , Infecciones Bacterianas del Ojo/microbiología , Enfermedad Aguda , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antibacterianos/uso terapéutico , Bacterias/efectos de los fármacos , Niño , Preescolar , Enfermedad Crónica , Dacriocistitis/tratamiento farmacológico , Infecciones Bacterianas del Ojo/tratamiento farmacológico , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Pruebas de Sensibilidad Microbiana , Persona de Mediana Edad , Estudios RetrospectivosAsunto(s)
Atrofia Óptica Hereditaria de Leber , Deficiencia de Vitamina B 12 , Humanos , Atrofia Óptica Hereditaria de Leber/diagnóstico , Atrofia Óptica Hereditaria de Leber/genética , Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina B 12/diagnóstico , Deficiencia de Vitamina B 12/genética , Mutación , Mitocondrias/genética , ADN Mitocondrial/genéticaAsunto(s)
Diabetes Mellitus , Diplopía , Diplopía/diagnóstico , Diplopía/etiología , Humanos , Estudios RetrospectivosRESUMEN
To describe the novel use of a bilayer dermal substitute to reconstruct exenterated orbits. A retrospective chart review was performed in the practices of two surgeons (RET and PDL) of all patients who had undergone orbital exenteration between April 2014 and June 2016 and whose subsequent reconstruction included lining the socket with Integra bilayer. Patient demographics, pathologic diagnoses, surgical and post-operative complications, graft integrity, and patient acceptance were recorded. The charts of 7 patients (4 men and 3 women, ages 60-87 years) were reviewed. In all cases, the Integra graft had taken well to the socket bed at the time of silicone removal 3-4 weeks after surgery. Epithelialization of the socket occurred rapidly over the Integra graft (within several weeks) without incident in each case and with minimal postoperative management. No intraoperative or postoperative complications were noted. Integra dermal substitute is an ideal graft for the lining of an exenterated orbit. It is readily available in large quantities, handles easily, lines the socket smoothly, epithelializes rapidly, and requires minimal postoperative care. It offers minimal morbidity compared to skin grafting or free flap reconstruction, but greatly speeds epithelialization compared to laissez faire management. Surgeons should consider reconstructing exenterated orbits with the Integra matrix, both for its ease of use and its ability to epithelialize rapidly.
Asunto(s)
Sulfatos de Condroitina , Colágeno , Evisceración Orbitaria , Órbita/cirugía , Procedimientos de Cirugía Plástica , Piel Artificial/estadística & datos numéricos , Anciano , Anciano de 80 o más Años , Vendajes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Repitelización/fisiología , Estudios Retrospectivos , Cicatrización de Heridas/fisiologíaAsunto(s)
Enfermedades Gastrointestinales/complicaciones , Infecciones por Helicobacter/complicaciones , Helicobacter pylori/aislamiento & purificación , Síndrome de Miller Fisher/etiología , Disco Óptico/diagnóstico por imagen , Papiledema/etiología , Adolescente , Femenino , Enfermedades Gastrointestinales/microbiología , Infecciones por Helicobacter/microbiología , Humanos , Síndrome de Miller Fisher/diagnóstico , Papiledema/diagnóstico , Tomografía de Coherencia Óptica/métodos , Tomografía Computarizada por Rayos XAsunto(s)
Traumatismos del Nervio Óptico , Heridas por Arma de Fuego , Humanos , Arteria Oftálmica/diagnóstico por imagen , Nervio Óptico , Traumatismos del Nervio Óptico/diagnóstico por imagen , Traumatismos del Nervio Óptico/etiología , Heridas por Arma de Fuego/diagnóstico por imagen , Heridas por Arma de Fuego/cirugíaRESUMEN
OBJECTIVE: To describe the clinical features, ancillary diagnostic studies, and treatment outcomes in a cohort of pediatric patients with giant orbital hydrocystomas. DESIGN: Retrospective case series. PARTICIPANTS: Pediatric patients with giant orbital hydrocystomas treated in the practice of one surgeon (PDL). METHODS: A retrospective review of the clinical charts of pediatric patients with orbital hydrocystoma was performed and diagnostic information collected. Results were reviewed and compared with reported clinical data in the literature. MAIN OUTCOME MEASURES: Clinical presentation and histopathological findings of pediatric orbital hydrocystomas. RESULTS: Three pediatric cases of giant orbital hydrocystoma were encountered, each with an unusual feature, including deep orbital location, occurrence following trauma, and eccrine pathology. CONCLUSION: Giant orbital hydrocystomas may present in the pediatric population. Ophthalmologists should be cognizant of this entity when evaluating a child with a large, cystic orbital mass.
Asunto(s)
Hidrocistoma/patología , Neoplasias Orbitales/patología , Neoplasias de las Glándulas Sudoríparas/patología , Adolescente , Niño , Femenino , Hidrocistoma/diagnóstico por imagen , Hidrocistoma/cirugía , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Procedimientos Quirúrgicos Oftalmológicos , Neoplasias Orbitales/diagnóstico por imagen , Neoplasias Orbitales/cirugía , Estudios Retrospectivos , Neoplasias de las Glándulas Sudoríparas/diagnóstico por imagen , Neoplasias de las Glándulas Sudoríparas/cirugía , Tomografía Computarizada por Rayos XRESUMEN
The purpose of this study was to present three cases of Saturday night retinopathy. The study design was observational case series. We described three cases who presented to our centre with acute visual loss following intravenous drug abuse and stupor leading to continuous pressure on the orbit while asleep. All cases presented with acute vision loss and had funduscopic evidence of ophthalmic or central retinal artery occlusion. Two of the cases presented with ophthalmoplegia and proptosis. One of the cases had significantly increased intraocular pressure with corneal oedema. All cases had fixed and non-reactive pupils with significant relative afferent pupillary defect. One case also had accompanying peroneal nerve damage. All three cases had poor visual outcomes. Saturday night retinopathy is a blinding condition with either central retinal or ophthalmic artery occlusion, which may present with transient orbital congestion and ophthalmoplegia. It may be accompanied by other nerve damage from compression in other parts of the body and is caused by prolonged positional pressure on the orbit.