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.

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.].

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.

Neurosyphilis Mimicking Connective Tissue Disease.

A male in his 60s developed a pruritic, maculopapular rash on his torso and arms, sparing his palms and soles. He tested positive for ANA and an initial skin biopsy identified "bullous lupus," supporting the diagnosis of a connective tissue disease. Additional symptoms included headaches, facial nerve palsy and hearing loss, which partially responded to oral corticosteroids. He subsequently developed a steroid-dependent left eye scotoma, neuroretinitis and optic nerve papillitis. Mycophenolate mofetil was added but an attempted oral steroid taper led to a worsening rash, progressive retinitis and papillitis. Neurosyphilis was confirmed by serum positive rapid plasma reagin test, reactive treponema pallidum antibodies, positive cerebrospinal fluid venereal disease research laboratory and positive spirochete immunostain of skin biopsy of lesional (rash) tissue. Treatment with intravenous ceftriaxone resolved his rash and visual symptoms. It is important to consider syphilis as a mimicker of connective tissue diseases.

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.

Primary and Secondary Optic Nerve Sheath Meningioma.

Objective This study was aimed to review issues relating to the recognition, radiographic diagnosis, monitoring, and management of primary and secondary optic nerve sheath meningioma (ONSM). Design This study is a review of peer-reviewed literature combined with illustrative case studies. Participants and Methods A literature search was conducted via the PubMed database using pertinent search terms. Selected articles were limited to those written or translated into English. Additional works cited within articles were also included. Individual cases were drawn from the experience of a tertiary academic neuroophthalmic and orbital practice. Tables summarize radiotherapeutic and surgical studies, excluding single case reports and studies focusing on meningioma of intracranial origin. Main Outcome Measurements Review of reported surgical and radiotherapeutic series is the primary measurement. Results The natural history of optic nerve sheath meningiomas is primarily characterized by progressive ipsilateral vision loss. Diagnosis is typically based on radiographic imaging findings, with biopsy remaining indicated in some patients. Management strategies may include observation, radiation, and/or surgical intervention, or a combination of these approaches. The role of surgery, especially with respect to primary ONSM (pONSM), remains controversial. Advancement of radiotherapy techniques has shifted modern treatment paradigms in pONSM toward radiation as primary treatment, as surgical outcomes are inferior in major studies. Although radiation remains the treatment of choice in many cases, selected patients may benefit from surgery, especially in the setting of secondary ONSM (sONSM). Conclusion A wide variety of radiotherapeutic and surgical treatment modalities for ONSM exist. The specific indications for each management strategy continue to be redefined.

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.

Posterior Cortical Atrophy: Characteristics From a Clinical Data Registry.

Background: Posterior cortical atrophy (PCA) is a neurodegenerative syndrome that presents with higher-order visual dysfunction with relative sparing of memory and other cognitive domains, and it is most commonly associated with Alzheimer's disease pathology. There is a lack of data regarding the presentation of PCA to non-cognitive specialists. Therefore, we collected clinical data from neuro-ophthalmologists regarding the presentation of PCA to their practices and compared data to published cohorts and a published survey of cognitive specialists. Methods: Members of the North American Neuro-Ophthalmology Society Listserv (NANOSnet) were invited to complete an online, retrospective, chart-review data-entry survey regarding their patients with PCA, and REDCap was used for data collection. Results: Data for 38 patients were entered by 12 neuro-ophthalmologists. Patient mean age at presentation was 67.8 years, and 74% of patients were women. Difficulty reading was reported at presentation by 91% of patients, and poor performance on color vision, stereopsis, and visual field testing (performed reliably by 36/38 patients) were common findings. Most patients who were treated were treated with donepezil and/or memantine. Conclusions: Compared to published data from cognitive specialists, patients presenting to neuro-ophthalmology with PCA were more likely to be older and female and have a reading complaint. Reliable visual field testing was the norm with homonymous defects in the majority of patients. The neuro-ophthalmologist plays an important role in diagnosing PCA in older adults with unexplained visual signs and symptoms, and future studies of PCA should involve multiple specialists in order to advance our understanding of PCA and develop effective treatments.

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.

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.

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.

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.