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.
View Article and Find Full Text PDFAm J Ophthalmol Case Rep
June 2024
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.
J Pediatr Ophthalmol Strabismus
February 2024
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.
View Article and Find Full Text PDFA 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.
View Article and Find Full Text PDFA 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).
View Article and Find Full Text PDFThere 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.
View Article and Find Full Text PDFAm J Ophthalmol Case Rep
September 2021
Purpose: To study post-interventional findings in patients with dysthyroid optic neuropathy (DON) treated with teprotumumab.
Observations: In this multicenter observational Case series patients with DON were treated with teprotumumab, an insulin-like growth factor I receptor inhibitor (10 mg/kg for the first infusion then 20 mg/kg for subsequent infusions, every three weeks for a total 8 infusions). This study included patients with acute and chronic thyroid eye disease (TED) with DON who had failed conventional therapies and were not candidates for surgical decompression.
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). This study is a review of peer-reviewed literature combined with illustrative case studies. A literature search was conducted via the PubMed database using pertinent search terms.
View Article and Find Full Text PDFWith 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.
View Article and Find Full Text PDFPosterior 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.
View Article and Find Full Text PDFWe 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.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
January 2020
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.
View Article and Find Full Text PDFOphthalmic Plast Reconstr Surg
December 2019
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.
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