45th Annual Meeting of the American Society of Neuroimaging

The proceedings contain 31 papers. The topics discussed include: brain abscess appearing 20 years post craniotomy;postoperative diffusion restriction in the proximal optic nerve: optic neuropathy or central retinal artery occlusion?;magnetic resonance imaging as a prognostic disability marker in clinically isolated syndrome: a systematic review;bilateral internuclear ophthalmoplegia caused by unilateral infarction;neuroaspergillosis in a patient with chronic lymphocytic leukemia as progressively worsening ischemic infarct;neuroimaging in mitochondrial short-chain enoyl-coa hydratase 1 deficiency: a progressive encephalomyelopathy starting in utero;childhood-onset neurodegeneration with brain atrophy: imaging findings of a rare diagnosis;multiple sclerosis associated with Balo-like lesions post-coronavirus disease 2019;and within-subject reproducibility of quantitative proton density mapping.

Retinal Manifestations in Rhinoorbito-cerebral Mucormycosis: A Cross-sectional Study

Introduction: Rhino-orbito-cerebral Mucormycosis (ROCM) is an uncommon but devastating fungal infection caused by Mucoraceae family fungi, which are angiotropic and filamentous, with significantly high morbidity and mortality despite treatment. Post Coronavirus Disease-2019 (COVID-19), there was a sudden surge in ROCM cases nationwide due to immunologically and metabolically compromised status. Aim: To describe retinal manifestations in ROCM in a tertiary eye care centre of Northern India. Materials and Methods: An analytic, cross-sectional and hospital-based study was conducted in Regional Institute of Ophthalmology, PGIMS Rohtak, Haryana, India, from May 2021 to September 2021. This study was conducted on 200 admitted patients of RCOM in the institute, which was only designated Nodal centre in Haryana, India. Detailed history was recorded in every patient regarding presenting symptoms, history of COVID-19, hospital stay, oxygen inhalation, steroid intake and immunisation. Thorough ocular examination was done in every patient including visual acuity, ocular movements and pupillary reactions. Dilated fundus examination was done by Indirect Ophthalmoscopy (IDO) for posterior segment evaluation. Contrast Enhanced Magnetic Resonance Imaging (CE-MRI) brain with orbit and Paranasal Sinus (PNS) was done in every patient to see the extent of spread and planning further management. Results: Out of 200 patients of ROCM, majority of patients (64/200) were of 51-60 year age group (32%) followed by 41-50 year age group (28%). Out of 200 cases of ROCM, 146 patients (73%) had history of COVID-19 infection in past and 134 (67%) patients had history of hospital stay during COVID-19 infection. Oxygen (O2) supplementation was given to 98 patients either at home or during hospital stay. History of steroid intake was present in 34 patients and 46 patients received injection Remedsivir. Only 12 patients had vaccine against COVID-19 and none of them were fully vaccinated. Most common presenting symptom was unilateral nasal stiffness (22%) followed by loss of vision (17%). Most common predisposing factor was Diabetes Mellitus (DM) in 78 patients (39%) followed by steroid intake in 34 patients (17%). Out of 200 patients, only 60 patients had retinal manifestations and most common was Central Retinal Artery Occlusion (CRAO) (35/60) and the main mechanism is the direct infiltration of central retinal artery due to angioinvasion of fungi from the orbit. Conclusion: CE-MRI brain with orbit is an important tool in diagnosing and monitoring progression of RCOM but it cannot provide information regarding retinal findings like CRAO, central retinal venous occlusion (CRVO), disc pallor and optic atrophy. Thus, the fundus examination of every ROCM patient should be emphasised, as it not only helps in categorising ROCM but also tells about the visual potential of affected eye. Patients with CRAO and combined vascular occlusion should be considered for exenteration on urgent basis, so that intracranial spread can be prevented and patient's life can be saved.

Modern a COVID-19 Vaccine-Induced Immune Thrombosis of Central Retinal Artery-Report of a Case

Objective: To report a rarely isolated central retinal artery occlusion (CRAO) following Coronavirus disease 2019 (COVID-19) Vaccine Moderna (mRNA-1273). Background: COVID-19 caused by severe acute respiratory syndrome coronavirus was firstly reported in Dec 2019 and became pandemic as of Mar 2020. Fortunately, novel rapidly developed COVID-19 vaccines are capable of lessening the pandemic effectively. As billions of people vaccinated, however, COVID-19 vaccine-induced thrombosis (VIT) are gradually emerging. Design/Methods: A previously healthy 70-year-old man presented with acute painless visual loss of the right eye five days after the first dose of Moderna vaccine. On examination of the right eye, visual acuity (VA) was counting finger at 15 cm. Fundoscopy revealed a diffuse whitened retina with cherry-red spot. Optical coherence tomography (OCT) showed hyperreflectivity. Screening tests for platelet and D-Dimer levels were unremarkable. CRAO was treated with clopidogrel and hyperbaric oxygen therapy. The serum level of anti-platelet factor-4 (PF4) antibody was 73.34 ng/ml (ref, 0-49.99 ng/ml).Two months later, VA was counting finger at 10 cm3 and OCT revealed hyperreflectivity and mild inner retina atrophy Results: COVID-19 vaccine-induced thrombosis and thrombocytopenia (VITT) based on the victims receiving AstraZeneca and Johnson & Johnson vaccines is through autoimmune antibody against PF4. VITT is typically manifested within 6-24 days post-vaccination;thrombotic sites are in the cerebral sinus, portal vein, splanchnic vein, and pulmonary emboli;as well as thrombocytopenia and increased level of D-Dimer. Our patient had isolated CRAO five days post-Moderna vaccination but normal platelet count and D-Dimer level. Moreover, VIT with isolated CRAO was not published on PubMed. Conclusions: VIT could occur in the unusual site such as CRAO in our case. Normal platelet and D-Dimer levels might not be sensitive tools to exclude VIT. Suspected patient with thrombotic event after COVID-19 vaccines should have anti-PF4 antibody test to assure an effective treatment.

And quickly there were ten: DADA2, experience from a center in Mumbai, India

Introduction: The number / phenotype of DADA2 continues to expand rapidly though series from Asia are scant. Objectives: Share experience with 10 DADA2 patients (9 unrelated families) identified over 2 years. Methods: We diagnosed the first case in April 2019 following which we recalled and diagnosed 4 more patients on renewed suspicion. In 2, their phenotypes did not match the initial provisional diagnosis of primary CNS vasculitis and inflammatory bowel disease (IBD) respectively while 2 had been treated as classic PAN. 4 patients were diagnosed prospectively on clinical suspicion and 1in whom we suspected syndromic bone dysplasia with inflammatory features was a diagnostic surprise. Results: 7/10 are males. Age of onset ranged from 4 months - 17 years 9 months. Referrals were by varied specialists including primary pediatrician, pediatric hematologist, ophthalmologist, adult neurologist and urosurgeon. Medium-vessel dominated disease was seen in 6 patients and in 3 we suspected a systemic autoinflammatory disease (SAID) {1-febrile relative of a previously diagnosed DADA2 patient, 1-IBD-like with cutaneous vasculitis,1- early onset prolonged fever with granulomatous mediastinal adenitis suspected Blau syndrome} and 1 patient with progressive deforming symmetric inflammatory arthropathy and acquired micrognathia. Cutaneous features were the commonest;seen in 7 patients and stroke was seen in 3. Other systems involved were musculoskeletal (5- including the bone dysplasia mimic described above),renal (4- notable were renal artery stenosis and perinephric hematoma), gastrointestinal (2- notable was bowel perforation), while ocular involvement was seen in 2 (notable being central retinal artery occlusion and episcleritis). Hematological features were seen in 5 and included pure red cell aplasia, persistent leucopenia and thrombocytopenia in 1 patient each and anemia in 2 (notable-unexplained anemia of infancy). None of the patients had exclusive hematological disease or immunodeficiency. 5 were homozygous for p.G47R variant and 2 are compound heterozygous with p.G47R and splice mutation c.753+2T>A and p.G47R and p.H219P respectively. Of those with p.G47R variant 4 belong to Agarwal community in whom endogamy is known. 2 patients born of a first cousin marriage (and even related three generations higher) have a homozygous pathogenic variant p.G358R. The patient with symmetrical skeletal affliction has a homozygous pathogenic variant in p.R169Q. All 4 patients in whom ADA2 enzyme assay was performed were deficient. 4 patients are on etanercept originator molecule and 6 on etanercept biosimilar with treatment duration varying between 2 weeks to 116 months and no drug side effects. 9 patients are in clinical remission off steroids and growing well with no restriction of activities of daily living. 2 have residual hypertension. 1 unvaccinated patient contracted COVID 19 and recovered uneventfully. Conclusion: Since our first case in 2019, DADA2 is now the commonest SAID in our cohort (10/44). Due to its initial presentation to varied specialists we need to spread awareness to increase diagnosis. We report an unusual phenotype mimicking a bone dysplasia and alert colleagues that the classic phenotype originally described is being overshadowed by a wide spectrum. The p.G47R mutation is the commonest in our series and seen in the endogamous Agarwal community. The disease is very responsive to etanercept and treatment is progressively affordable with etanercept biosimilar. Residual hypertension may be seen with renal involvement and 1 patient with COVID19 on etanercept recovered uneventfully.