Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.

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.

Hybrid Schwannoma-Perineurioma of the Orbit.

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.

Antimicrobial-eluting cement orbital implant: a case report of staged enucleation for infectious panophthalmitis with extraocular extension.

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.

Management of complicated pediatric rhinosinusitis in the COVID-19 era.

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.

Orbital cellulitis, sinusitis and intracranial abnormalities in two adolescents with COVID-19.

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.

Clinical and Magnetic Resonance Imaging Characteristics of Postfenestration Optic Nerve Sheath Pseudomeningoceles.

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.

The microbiologic profile of dacryocystitis.

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.

Use of bilayer matrix wound dressing in the exenterated socket.

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.

Giant Orbital Hydrocystoma in Children: Case Series and Review of the Literature.

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.

Saturday Night Retinopathy with Ophthalmoplegia: A Case Series.

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.

Papilledema due to a permanent catheter for renal dialysis and an arteriovenous fistula: a "two hit" hypothesis.

Elevated intracranial pressure in patients with chronic renal failure has several potential causes. Its rare occurrence secondary to the hemodynamic effects of hemodialysis is described and the findings support a multifactorial etiology ("two hits").

Current endovascular treatment options for central retinal arterial occlusion: a review.

Central retinal artery occlusion, although relatively rare, is an ophthalmological emergency. If left untreated, complete blindness will ensue. Conventional therapies have not significantly improved outcomes compared with the natural history of the disease. Several case series of more recent endovascular approaches, such as intraarterial fibrinolysis, report successful outcomes. Still other studies regarding intraarterial fibrinolysis do not demonstrate any significantly better outcomes, with some even indicating increased complication rates. Therefore, the authors present a review of the current endovascular treatment options for central retinal artery occlusion.

In the eyes of the law: malpractice litigation in oculoplastic surgery.

PURPOSE: To assess characteristics associated with various outcomes of malpractice litigation, resulting from injuries sustained during oculoplastic procedures. METHODS: The Westlaw legal database (Thomson Reuters, New York, NY, U.S.A.) was used to obtain jury verdicts and settlements. Pertinent data were extracted from 69 malpractice cases litigated from 1988 to 2012 involving oculoplastic procedures, including alleged cause of malpractice, outcome, and defendant specialty. RESULTS: The most commonly litigated surgical procedures were blepharoplasty (63.8% of total) and brow lift surgery (11.6%). The most commonly alleged complications included excessive scarring (24.6%), lagophthalmos (24.6%), visual defects (23.2%), and exposure keratitis (21.7%). Plastic surgeons were the most commonly named defendants (46.4%), followed by both comprehensive ophthalmologists and fellowship-trained ophthalmic plastic surgeons (17.3% each). A defense verdict was held in 60.9% of cases, a plaintiff verdict in 31.9% of cases, and a settlement was reached in 7.2% of cases. Blindness, cranial nerve injury, and the allegation of a permanent deficit increased the likelihood of a case being resolved with payment to the plaintiff (Fisher exact tests, p < 0.05). CONCLUSIONS: Most litigated oculoplastic malpractice cases were resolved in favor of the defendant, while settlements and plaintiff decisions averaged $455,703. Blepharoplasty constituted two-thirds of cases, with the most frequently cited associated complications being unsightly scarring, lagophthalmos, and visual deficits. An alleged lack of informed consent (30.4%) or the need for additional surgery (39.1%) was present in a considerable proportion of cases, emphasizing the importance of a detailed informed consent and clear communication preoperatively regarding patient expectations.

Rapid response of thyroid eye disease, peripheral edema, and acropathy to teprotumumab infusion.

Purpose: We present a case of rapid improvement in symptoms of thyroid eye disease and amelioration of worsening peripheral edema and acropathy with infusion of teprotumumab, a monoclonal antibody targeting the insulin-like growth factor-1 receptor. Observations: A 66 year old female with history of Hashimoto thyroiditis developed progressive thyroid eye disease (TED), peripheral edema, and acropathy attributable to acute Graves disease. Her signs and symptoms, refractory to oral steroid and diuretic therapy, rapidly improved following a standard dosing regimen of teprotumumab (one infusion 10 mg/kg then seven infusions 20 mg/kg) to resolution. Conclusions & importance: Teprotumumab, a monoclonal antibody targeting the insulin-like growth factor-1 receptor, is the first medication approved by the FDA for use in TED. Teprotumumab may contribute to the treatment of extraocular manifestations of Graves disease, chief among these peripheral soft tissue manifestations.

Iatrogenic Pseudo-Duane Retraction Syndrome Following Orbitozygomatic Craniotomy.

Restrictive strabismus is a known complication of orbitozygomatic craniotomy. However, a pseudo-Duane syndrome has not been described following this procedure. The authors describe a 58-year-old woman who after craniotomy developed incomitant left exotropia with an adduction deficit; the globe retracted and palpebral fissure narrowed with attempted ocular adduction. [J Pediatr Ophthalmol Strabismus. 2024;61(1):e7-e10.].