Brain MRI Lesions in Alexia Without Agraphia: A Case-Control Study.

Background: Alexia without agraphia (AWA) is an acquired reading disturbance associated with left posterior cerebral artery (PCA) infarction. Based on autopsy and neuroimaging, there are two explanations for its pathogenesis: a visual cortex-language cortex disconnection and a visual word-form agnosia. Our goal was to discover if more refined brain imaging in a case-control study would provide further imaging support for either of these hypotheses.

Attaining Diagnostic Excellence: How the Structure and Function of a Rare Disease Service Contribute to Ending the Diagnostic Odyssey.

Patients with rare or otherwise undiagnosed disorders frequently find themselves on a diagnostic odyssey, the often-prolonged journey toward diagnosis that can be characterized by significant physical, emotional, and financial hardship, as well as by diagnostic errors and delays. The wider availability of clinical exome sequencing has helped end many diagnostic odysseys, though diagnostic success rates of around 35% for exome sequencing leave many patients undiagnosed. Diagnostic yields can be improved via the implementation of advanced genetic testing modalities, though both these modalities and exome sequencing perform significantly better when paired with high-quality phenotypic data.

Retinal cotton wool spot associated with cladribine therapy for multiple sclerosis.

Cladribine has been shown to lower relapse rates and decrease disease progression in patients with relapsing forms of multiple sclerosis (MS). Reported adverse effects with use of cladribine include lymphopenia, neutropenia, and infections. Ocular complications have not previously been described with cladribine.

Neuro-Ophthalmic Complications in Patients Treated With CTLA-4 and PD-1/PD-L1 Checkpoint Blockade.

Background: In recent years, CTLA-4 and PD-1/PD-L1 checkpoint inhibitors have proven to be effective and have become increasingly popular treatment options for metastatic melanoma and other cancers. These agents work by enhancing autologous antitumor immune responses. Immune-related ophthalmologic complications have been reported in association with checkpoint inhibitor use but remain incompletely characterized.

Pilot Study of Hyperfractionated Dosing of Lutetium-177-Labeled Antiprostate-Specific Membrane Antigen Monoclonal Antibody J591 ( Lu-J591) for Metastatic Castration-Resistant Prostate Cancer.

Lessons Learned: Hyperfractionation of lutetium-177 ( Lu)-J591 for patients with metastatic castration-resistant prostate cancer did not appear to have any additional advantage over the single dose Lu-J591 or fractionated two-dose Lu-J591 therapy. Definite conclusions were challenging because of the small sample size of this study, and so further studies are needed to evaluate the viability of the hypothesis. On the basis of available data, a registration study of Lu-J591 (also known as TLX591) is planned and will use the two-dose fractionation schedule (Telix Pharma Q3 2019 update https://telixpharma.

Pharmacologic mydriasis in an infant following parental use of topical glycopyrronium tosylate.

We report the case of a 2-month-old boy with unilateral pharmacologic mydriasis from inadvertent exposure to glycopyrronium after parental use of glycopyrronium wipes. Clinician familiarity with the potential effects of glycopyrronium exposure may aid in the recognition, diagnosis, and prevention of pharmacologic mydriasis as well as the reduction of costly and unnecessary evaluations.

Acute visual loss after ipilimumab treatment for metastatic melanoma.

Background: Ipilimumab, a humanized CLTA-4 antibody is a standard therapy in the treatment of advanced melanoma. While ipilimumab provides an overall survival benefit to patients, it can be associated with immune related adverse events (IrAEs).

Case Presentation: Here we describe a patient treated with ipilimumab who experienced known IrAEs, including hypophysitis, as well as a profound vision loss due to optic neuritis.

Outer retinal structure after closed-globe blunt ocular trauma.

Purpose: To evaluate outer retinal structural abnormalities in patients with visual deficits after closed-globe blunt ocular trauma.

Methods: Nine subjects with visual complaints after closed-globe blunt ocular trauma were examined between 1 month after trauma and 6 years after trauma. Spectral domain optical coherence tomography was used to assess the outer retinal architecture, whereas adaptive optics scanning light ophthalmoscopy was used to analyze the photoreceptor mosaic integrity.

Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome.

We report a case of congenital mydriasis in a neonate with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Pilocarpine testing and gastrointestinal pathology in our patient suggest that the mydriasis is due to an underlying smooth muscle myopathy of the iris sphincter muscle. These findings may have important implications regarding the pathogenesis of MMIHS.

Primary adenoid cystic carcinoma of the orbital apex.

Adenoid cystic carcinoma is an uncommon malignant tumor of epithelial origin typically arising from salivary glands. Orbital involvement may occur via direct or perineural spread from a lacrimal gland or sinonasal source. Primary orbital adenoid cystic carcinoma without involvement of the lacrimal gland is rare.

Bálint syndrome and visual allochiria in a patient with reversible cerebral vasoconstriction syndrome.

Bálint syndrome (simultagnosia, optic ataxia, and ocular apraxia) is typically caused by pathology affecting the parietal-occipital regions bilaterally. Visual allochiria is an uncommonly reported symptom associated with parietal lobe pathology in which visual stimuli presented to one hemispace are transposed to the opposite side. We describe a patient with Bálint syndrome and visual allochiria whose initial brain MRI demonstrated acute infarction of the right parietal-occipital region.

Complex transient epileptic amnesia.

Transient epileptic amnesia is a rare but probably underrecognized form of temporal lobe epilepsy, which typically manifests as episodic isolated memory loss. Consequently, transient epileptic amnesia may be readily misdiagnosed as a nonepileptic memory dysfunction in older individuals. When appropriately recognized, it has been described as a treatment-responsive syndrome amenable to antiepileptic drugs.

Intracranial hemorrhage following neuroendovascular procedures with abciximab is associated with high mortality: a multicenter series.

Background: Abciximab is being used as an adjunct to neuroendovascular procedures both to prevent and treat ischemic sequelae. Experience with abciximab in this setting is limited; major bleeding complications, including fatal intracranial hemorrhage (ICH), are of particular concern. We report our multicenter experience with ICH following the administration of abciximab during neuroendovascular procedures.